ClinVar Genomic variation as it relates to human health
NM_001005741.2(GBA1):c.[1448T>C;1483G>C;1497G>C]
Germline
Classification
Help
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
(6)
Help
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Pathogenic
6
criteria provided, multiple submitters, no conflicts
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
This haplotype includes the following variants
NM_001005741.2(GBA1):c.[1448T>C;1483G>C;1497G>C]
- Other names
-
GBA, LEU444PRO, ALA456PRO, AND VAL460VAL
- Functional consequence
- -
- Links
- ClinGen: CA028489
- OMIM: 606463.0009
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
| GBA1 | - | - |
GRCh38 GRCh38 GRCh37 |
32 | 406 | |
| LOC106627981 | - | - | - |
GRCh38 GRCh38 |
- | 360 |
Conditions - Germline
| Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
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The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Pathogenic (1) |
no assertion criteria provided
|
Mar 1, 2000 | RCV000004534.14 | |
| Pathogenic (1) |
no assertion criteria provided
|
Mar 1, 2000 | RCV000004536.14 | |
| Pathogenic (1) |
no assertion criteria provided
|
Mar 1, 2000 | RCV000004533.14 | |
| Pathogenic (1) |
no assertion criteria provided
|
Mar 1, 2000 | RCV000004535.14 | |
| Pathogenic (1) |
criteria provided, single submitter
|
Sep 15, 2022 | RCV001781179.13 | |
| Pathogenic (1) |
criteria provided, single submitter
|
May 3, 2021 | RCV001836696.11 |
Submissions - Germline
| Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(May 03, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Parkinson disease, late-onset
Affected status: yes
Allele origin:
germline
|
Fulgent Genetics, Fulgent Genetics
Accession: SCV001652790.1
First in ClinVar: May 29, 2021 Last updated: May 29, 2021 |
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Pathogenic
(Sep 15, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Revvity Omics, Revvity
Accession: SCV002024192.3
First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024 |
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Pathogenic
(Mar 01, 2000)
|
no assertion criteria provided
Method: literature only
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GAUCHER DISEASE, PERINATAL LETHAL
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000024710.4
First in ClinVar: Apr 04, 2013 Last updated: Jun 24, 2017 |
Comment on evidence:
In 3 non-Jewish patients with Gaucher disease type I (230800) and 1 non-Jewish patient with type II disease (230900), Hong et al. (1990) found a … (more)
In 3 non-Jewish patients with Gaucher disease type I (230800) and 1 non-Jewish patient with type II disease (230900), Hong et al. (1990) found a mutant allele containing 3 single-base substitutions in exon 10 of the GBA gene, resulting in L444P (606463.0001), ala456-to-pro (A456P), and val460-to-val (V460V) substitutions. This mutant allele was referred to as 'pseudopattern' because it has sequence identical to a small region of exon 10 in the pseudogene (Horowitz et al., 1989). At least one of the patients was a compound heterozygote; the other allele was N370S (606463.0003). The authors suggested either gene conversion or recombination as a possible mechanism. Latham et al. (1990) independently found these 3 mutations on 1 allele in patients with types I, II, and III (231000) Gaucher disease. None was homozygous for the complex allele: all patients had it in compound heterozygosity with another pathogenic GBA mutation. Sidransky et al. (1996) described homozygosity for this complex triply mutant allele in 2 conceptuses from an Afghan family with perinatal lethal Gaucher disease (608013). The first infant had severe hydrops fetalis with bilateral hydrothorax and fetal hypokinesia with multiple joint contractures. Other features included hepatosplenomegaly, pulmonary hypoplasia, muscular atrophy, dysmorphic facies, and ichthyosis-like changes of the skin. The infant died less than an hour after delivery. In the next pregnancy a prenatal diagnosis of Gaucher disease was made by enzyme assay on cultured amniocytes obtained at week 15. Neither hydrops nor joint contractures were found in the fetus aborted at 23 weeks' gestation. The complex mutant allele is thought to have arisen by gene conversion or a recombination event with the neighboring pseudogene. The findings are comparable to those in the 'knockout' Gaucher mouse in which absence of enzyme is incompatible with long survival (Sidransky et al., 1992; Tybulewicz et al., 1992). A presumed homozygote for this complex allele, behaving as a perinatal lethal, was reported by Strasberg et al. (1994) in a fetus of Macedonian/Ashkenazi Jewish parentage. Stone et al. (2000) reported a male infant born to consanguineous Lebanese parents who was homozygous for this recombinant allele. Ultrasound scanning demonstrated reduced fetal movement, neck hyperextension, and hepatomegaly. He was born at 34 weeks' gestation and died shortly thereafter. Autopsy findings included thick collodion-like skin, ectropia, joint contractures, hepatosplenomegaly, and facial dysmorphism. Gaucher cells were seen in many tissues. The diagnosis of Gaucher disease was confirmed enzymatically. (less)
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Pathogenic
(Mar 01, 2000)
|
no assertion criteria provided
Method: literature only
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GAUCHER DISEASE, TYPE I
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000024707.4
First in ClinVar: Apr 04, 2013 Last updated: Jun 24, 2017 |
Comment on evidence:
In 3 non-Jewish patients with Gaucher disease type I (230800) and 1 non-Jewish patient with type II disease (230900), Hong et al. (1990) found a … (more)
In 3 non-Jewish patients with Gaucher disease type I (230800) and 1 non-Jewish patient with type II disease (230900), Hong et al. (1990) found a mutant allele containing 3 single-base substitutions in exon 10 of the GBA gene, resulting in L444P (606463.0001), ala456-to-pro (A456P), and val460-to-val (V460V) substitutions. This mutant allele was referred to as 'pseudopattern' because it has sequence identical to a small region of exon 10 in the pseudogene (Horowitz et al., 1989). At least one of the patients was a compound heterozygote; the other allele was N370S (606463.0003). The authors suggested either gene conversion or recombination as a possible mechanism. Latham et al. (1990) independently found these 3 mutations on 1 allele in patients with types I, II, and III (231000) Gaucher disease. None was homozygous for the complex allele: all patients had it in compound heterozygosity with another pathogenic GBA mutation. Sidransky et al. (1996) described homozygosity for this complex triply mutant allele in 2 conceptuses from an Afghan family with perinatal lethal Gaucher disease (608013). The first infant had severe hydrops fetalis with bilateral hydrothorax and fetal hypokinesia with multiple joint contractures. Other features included hepatosplenomegaly, pulmonary hypoplasia, muscular atrophy, dysmorphic facies, and ichthyosis-like changes of the skin. The infant died less than an hour after delivery. In the next pregnancy a prenatal diagnosis of Gaucher disease was made by enzyme assay on cultured amniocytes obtained at week 15. Neither hydrops nor joint contractures were found in the fetus aborted at 23 weeks' gestation. The complex mutant allele is thought to have arisen by gene conversion or a recombination event with the neighboring pseudogene. The findings are comparable to those in the 'knockout' Gaucher mouse in which absence of enzyme is incompatible with long survival (Sidransky et al., 1992; Tybulewicz et al., 1992). A presumed homozygote for this complex allele, behaving as a perinatal lethal, was reported by Strasberg et al. (1994) in a fetus of Macedonian/Ashkenazi Jewish parentage. Stone et al. (2000) reported a male infant born to consanguineous Lebanese parents who was homozygous for this recombinant allele. Ultrasound scanning demonstrated reduced fetal movement, neck hyperextension, and hepatomegaly. He was born at 34 weeks' gestation and died shortly thereafter. Autopsy findings included thick collodion-like skin, ectropia, joint contractures, hepatosplenomegaly, and facial dysmorphism. Gaucher cells were seen in many tissues. The diagnosis of Gaucher disease was confirmed enzymatically. (less)
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Pathogenic
(Mar 01, 2000)
|
no assertion criteria provided
Method: literature only
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GAUCHER DISEASE, TYPE II
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000024708.4
First in ClinVar: Apr 04, 2013 Last updated: Jun 24, 2017 |
Comment on evidence:
In 3 non-Jewish patients with Gaucher disease type I (230800) and 1 non-Jewish patient with type II disease (230900), Hong et al. (1990) found a … (more)
In 3 non-Jewish patients with Gaucher disease type I (230800) and 1 non-Jewish patient with type II disease (230900), Hong et al. (1990) found a mutant allele containing 3 single-base substitutions in exon 10 of the GBA gene, resulting in L444P (606463.0001), ala456-to-pro (A456P), and val460-to-val (V460V) substitutions. This mutant allele was referred to as 'pseudopattern' because it has sequence identical to a small region of exon 10 in the pseudogene (Horowitz et al., 1989). At least one of the patients was a compound heterozygote; the other allele was N370S (606463.0003). The authors suggested either gene conversion or recombination as a possible mechanism. Latham et al. (1990) independently found these 3 mutations on 1 allele in patients with types I, II, and III (231000) Gaucher disease. None was homozygous for the complex allele: all patients had it in compound heterozygosity with another pathogenic GBA mutation. Sidransky et al. (1996) described homozygosity for this complex triply mutant allele in 2 conceptuses from an Afghan family with perinatal lethal Gaucher disease (608013). The first infant had severe hydrops fetalis with bilateral hydrothorax and fetal hypokinesia with multiple joint contractures. Other features included hepatosplenomegaly, pulmonary hypoplasia, muscular atrophy, dysmorphic facies, and ichthyosis-like changes of the skin. The infant died less than an hour after delivery. In the next pregnancy a prenatal diagnosis of Gaucher disease was made by enzyme assay on cultured amniocytes obtained at week 15. Neither hydrops nor joint contractures were found in the fetus aborted at 23 weeks' gestation. The complex mutant allele is thought to have arisen by gene conversion or a recombination event with the neighboring pseudogene. The findings are comparable to those in the 'knockout' Gaucher mouse in which absence of enzyme is incompatible with long survival (Sidransky et al., 1992; Tybulewicz et al., 1992). A presumed homozygote for this complex allele, behaving as a perinatal lethal, was reported by Strasberg et al. (1994) in a fetus of Macedonian/Ashkenazi Jewish parentage. Stone et al. (2000) reported a male infant born to consanguineous Lebanese parents who was homozygous for this recombinant allele. Ultrasound scanning demonstrated reduced fetal movement, neck hyperextension, and hepatomegaly. He was born at 34 weeks' gestation and died shortly thereafter. Autopsy findings included thick collodion-like skin, ectropia, joint contractures, hepatosplenomegaly, and facial dysmorphism. Gaucher cells were seen in many tissues. The diagnosis of Gaucher disease was confirmed enzymatically. (less)
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Pathogenic
(Mar 01, 2000)
|
no assertion criteria provided
Method: literature only
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GAUCHER DISEASE, TYPE III
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000024709.4
First in ClinVar: Apr 04, 2013 Last updated: Jun 24, 2017 |
Comment on evidence:
In 3 non-Jewish patients with Gaucher disease type I (230800) and 1 non-Jewish patient with type II disease (230900), Hong et al. (1990) found a … (more)
In 3 non-Jewish patients with Gaucher disease type I (230800) and 1 non-Jewish patient with type II disease (230900), Hong et al. (1990) found a mutant allele containing 3 single-base substitutions in exon 10 of the GBA gene, resulting in L444P (606463.0001), ala456-to-pro (A456P), and val460-to-val (V460V) substitutions. This mutant allele was referred to as 'pseudopattern' because it has sequence identical to a small region of exon 10 in the pseudogene (Horowitz et al., 1989). At least one of the patients was a compound heterozygote; the other allele was N370S (606463.0003). The authors suggested either gene conversion or recombination as a possible mechanism. Latham et al. (1990) independently found these 3 mutations on 1 allele in patients with types I, II, and III (231000) Gaucher disease. None was homozygous for the complex allele: all patients had it in compound heterozygosity with another pathogenic GBA mutation. Sidransky et al. (1996) described homozygosity for this complex triply mutant allele in 2 conceptuses from an Afghan family with perinatal lethal Gaucher disease (608013). The first infant had severe hydrops fetalis with bilateral hydrothorax and fetal hypokinesia with multiple joint contractures. Other features included hepatosplenomegaly, pulmonary hypoplasia, muscular atrophy, dysmorphic facies, and ichthyosis-like changes of the skin. The infant died less than an hour after delivery. In the next pregnancy a prenatal diagnosis of Gaucher disease was made by enzyme assay on cultured amniocytes obtained at week 15. Neither hydrops nor joint contractures were found in the fetus aborted at 23 weeks' gestation. The complex mutant allele is thought to have arisen by gene conversion or a recombination event with the neighboring pseudogene. The findings are comparable to those in the 'knockout' Gaucher mouse in which absence of enzyme is incompatible with long survival (Sidransky et al., 1992; Tybulewicz et al., 1992). A presumed homozygote for this complex allele, behaving as a perinatal lethal, was reported by Strasberg et al. (1994) in a fetus of Macedonian/Ashkenazi Jewish parentage. Stone et al. (2000) reported a male infant born to consanguineous Lebanese parents who was homozygous for this recombinant allele. Ultrasound scanning demonstrated reduced fetal movement, neck hyperextension, and hepatomegaly. He was born at 34 weeks' gestation and died shortly thereafter. Autopsy findings included thick collodion-like skin, ectropia, joint contractures, hepatosplenomegaly, and facial dysmorphism. Gaucher cells were seen in many tissues. The diagnosis of Gaucher disease was confirmed enzymatically. (less)
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Germline Functional Evidence
| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Phenotypic consequences of GBA1 pathological variant R463C (p.R502C). | Ryan E | American journal of medical genetics. Part A | 2024 | PMID: 38647370 |
| Gaucher Disease. | Adam MP | - | 2023 | PMID: 20301446 |
| Cardiopulmonary assessment of patients diagnosed with Gaucher's disease type I. | Bjelobrk M | Molecular genetics & genomic medicine | 2021 | PMID: 34275192 |
| Accurate Molecular Diagnosis of Gaucher Disease Using Clinical Exome Sequencing as a First-Tier Test. | Zampieri S | International journal of molecular sciences | 2021 | PMID: 34073924 |
| Selective screening for lysosomal storage disorders in a large cohort of minorities of African descent shows high prevalence rates and novel variants. | Limgala RP | JIMD reports | 2021 | PMID: 33977031 |
| Selective screening for lysosomal storage disorders in a large cohort of minorities of African descent shows high prevalence rates and novel variants. | Limgala RP | JIMD reports | 2021 | DOI: 10.1002/jmd2.12201 |
| Value of Exome Sequencing in Diagnosis and Management of Recurrent Non-immune Hydrops Fetalis: A Retrospective Analysis. | Zhou X | Frontiers in genetics | 2021 | PMID: 33897756 |
| Clinical and Genetic Spectra of Inherited Liver Disease in Children in China. | Fang Y | Frontiers in pediatrics | 2021 | PMID: 33763395 |
| Putative second hit rare genetic variants in families with seemingly GBA-associated Parkinson's disease. | Aslam M | NPJ genomic medicine | 2021 | PMID: 33402667 |
| Genetic characterization of the Albanian Gaucher disease patient population. | Cullufi P | JIMD reports | 2020 | PMID: 33473340 |
| The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects. | Kim YM | Orphanet journal of rare diseases | 2020 | PMID: 33176831 |
| Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility. | Cheema H | NPJ genomic medicine | 2020 | PMID: 33083013 |
| Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants. | Encarnação M | International journal of molecular sciences | 2020 | PMID: 32883051 |
| Association Between Glucocerebrosidase Mutations and Parkinson's Disease in Ireland. | Olszewska DA | Frontiers in neurology | 2020 | PMID: 32714263 |
| GBA-Related Parkinson's Disease: Dissection of Genotype-Phenotype Correlates in a Large Italian Cohort. | Petrucci S | Movement disorders : official journal of the Movement Disorder Society | 2020 | PMID: 32658388 |
| A Large-Scale Full GBA1 Gene Screening in Parkinson's Disease in the Netherlands. | den Heijer JM | Movement disorders : official journal of the Movement Disorder Society | 2020 | PMID: 32618053 |
| Hyperferritinemia and diagnosis of type 1 Gaucher disease. | Marchi G | American journal of hematology | 2020 | PMID: 32031266 |
| Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns. | Chien YH | Orphanet journal of rare diseases | 2020 | PMID: 32014045 |
| High-frequency component in flash visual evoked potentials in type 3 Gaucher disease. | Oguri M | Brain & development | 2020 | PMID: 31561936 |
| [Pathogenic gene variants and clinical phenotype features of 26 children with progressive myoclonic epilepsy]. | Zhang J | Zhonghua er ke za zhi = Chinese journal of pediatrics | 2019 | PMID: 31216804 |
| Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population. | Monies D | American journal of human genetics | 2019 | PMID: 31130284 |
| GBA, Gaucher Disease, and Parkinson's Disease: From Genetic to Clinic to New Therapeutic Approaches. | Riboldi GM | Cells | 2019 | PMID: 31010158 |
| POLG R964C and GBA L444P mutations in familial Parkinson's disease: Case report and literature review. | Hsieh PC | Brain and behavior | 2019 | PMID: 30941926 |
| Generation of two iPSC lines derived from two unrelated patients with Gaucher disease. | Nagel M | Stem cell research | 2019 | PMID: 30606667 |
| Clinical implementation of gene panel testing for lysosomal storage diseases. | Gheldof A | Molecular genetics & genomic medicine | 2019 | PMID: 30548430 |
| Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia. | Kim EA | International journal of hematology | 2019 | PMID: 30456712 |
| Individualized screening for chaperone activity in Gaucher disease using multiple patient derived primary cell lines. | Ivanova MM | American journal of translational research | 2018 | PMID: 30662625 |
| Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India. | Sheth J | BMC medical genetics | 2018 | PMID: 30285649 |
| Mutation analysis of Parkinson's disease genes in a Russian data set. | Emelyanov AK | Neurobiology of aging | 2018 | PMID: 30146349 |
| Genotypes and phenotypes in 20 Chinese patients with type 2 Gaucher disease. | Kang L | Brain & development | 2018 | PMID: 29934114 |
| Genotypes and phenotypes in 20 Chinese patients with type 2 Gaucher disease. | Kang L | Brain & development | 2018 | PMID: 29934114 |
| Perinatal Lethal Gaucher Disease due to RecNcil Recombinant Mutation in the GBA Gene Presenting with Hydrops Fetalis and Severe Congenital Anemia. | Bhutada E | Case reports in pathology | 2018 | PMID: 29854527 |
| A pilot screening of high-risk Gaucher disease children using dried blood spot methods in Shandong province of China. | Lei K | Orphanet journal of rare diseases | 2018 | PMID: 29625627 |
| High-risk screening for Gaucher disease in patients with neurological symptoms. | Momosaki K | Journal of human genetics | 2018 | PMID: 29602947 |
| Glucocerebrosidase gene variants are accumulated in idiopathic REM sleep behavior disorder. | Gámez-Valero A | Parkinsonism & related disorders | 2018 | PMID: 29487000 |
| Improvement of life quality measured by Lansky Score after enzymatic replacement therapy in children with Gaucher disease type 1. | Cerón-Rodríguez M | Molecular genetics & genomic medicine | 2018 | PMID: 29471591 |
| Clinical and molecular characteristics of patients with Gaucher disease in Southern China. | Feng Y | Blood cells, molecules & diseases | 2018 | PMID: 27865684 |
| Genetic risk factors in Finnish patients with Parkinson's disease. | Ylönen S | Parkinsonism & related disorders | 2017 | PMID: 29029963 |
| The L444P Gba1 mutation enhances alpha-synuclein induced loss of nigral dopaminergic neurons in mice. | Migdalska-Richards A | Brain : a journal of neurology | 2017 | PMID: 28969384 |
| GBA mutations in Gaucher type I Venezuelan patients: ethnic origins and frequencies. | Gómez G | Journal of genetics | 2017 | PMID: 28947706 |
| Lysosomal defects in ATP13A2 and GBA associated familial Parkinson's disease. | Sato S | Journal of neural transmission (Vienna, Austria : 1996) | 2017 | PMID: 28894968 |
| GBA Analysis in Next-Generation Era: Pitfalls, Challenges, and Possible Solutions. | Zampieri S | The Journal of molecular diagnostics : JMD | 2017 | PMID: 28727984 |
| Glucosylceramide and Glucosylsphingosine Quantitation by Liquid Chromatography-Tandem Mass Spectrometry to Enable In Vivo Preclinical Studies of Neuronopathic Gaucher Disease. | Hamler R | Analytical chemistry | 2017 | PMID: 28686011 |
| Parkinson disease in Gaucher disease. | Rodriguez-Porcel F | Journal of clinical movement disorders | 2017 | PMID: 28546865 |
| GBA Variants Influence Motor and Non-Motor Features of Parkinson's Disease. | Jesús S | PloS one | 2016 | PMID: 28030538 |
| Specifically neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's. | Liu G | Annals of neurology | 2016 | PMID: 27717005 |
| Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. | Maxwell KN | American journal of human genetics | 2016 | PMID: 27153395 |
| Long-term follow-up and sudden unexpected death in Gaucher disease type 3 in Egypt. | Abdelwahab M | Neurology. Genetics | 2016 | PMID: 27123474 |
| Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson's Disease. | Benitez BA | Molecular neurodegeneration | 2016 | PMID: 27094865 |
| Successful therapy for protein-losing enteropathy caused by chronic neuronopathic Gaucher disease. | Mhanni AA | Molecular genetics and metabolism reports | 2015 | PMID: 27014572 |
| Gaucher disease types 1 and 3: Phenotypic characterization of large populations from the ICGG Gaucher Registry. | Grabowski GA | American journal of hematology | 2015 | PMID: 26096741 |
| Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher disease. | Harvengt J | Molecular genetics and metabolism reports | 2014 | PMID: 27896091 |
| Glucocerebrosidase gene mutations associated with Parkinson's disease: a meta-analysis in a Chinese population. | Chen J | PloS one | 2014 | PMID: 25535748 |
| Disease variants in genomes of 44 centenarians. | Freudenberg-Hua Y | Molecular genetics & genomic medicine | 2014 | PMID: 25333069 |
| Glucocerebrosidase mutations in primary parkinsonism. | Asselta R | Parkinsonism & related disorders | 2014 | PMID: 25249066 |
| Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease. | Ankleshwaria C | Journal of human genetics | 2014 | PMID: 24522292 |
| Recurrent pulmonary aspergillosis and mycobacterial infection in an unsplenectomized patient with type 1 Gaucher disease. | Machaczka M | Upsala journal of medical sciences | 2014 | PMID: 24195576 |
| Clinicogenetic study of GBA mutations in patients with familial Parkinson's disease. | Li Y | Neurobiology of aging | 2014 | PMID: 24126159 |
| Clinical profiles of Parkinson's disease associated with common leucine-rich repeat kinase 2 and glucocerebrosidase genetic variants in Chinese individuals. | Wang C | Neurobiology of aging | 2014 | PMID: 24095219 |
| Functional analysis of 11 novel GBA alleles. | Malini E | European journal of human genetics : EJHG | 2014 | PMID: 24022302 |
| Unfolded protein response in Gaucher disease: from human to Drosophila. | Maor G | Orphanet journal of rare diseases | 2013 | PMID: 24020503 |
| A common and two novel GBA mutations in Thai patients with Gaucher disease. | Tammachote R | Journal of human genetics | 2013 | PMID: 23719189 |
| Mutations in GBA and risk of Parkinson's disease: a meta-analysis based on 25 case-control studies. | Mao X | Neurological research | 2013 | PMID: 23676350 |
| Corneal manifestations and in vivo confocal microscopy of Gaucher disease. | Geens S | Cornea | 2013 | PMID: 23635853 |
| A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. | Nalls MA | JAMA neurology | 2013 | PMID: 23588557 |
| The L444P GBA mutation is associated with early-onset Parkinson's disease in Mexican Mestizos. | González-Del Rincón Mde L | Clinical genetics | 2013 | PMID: 23448517 |
| Novel mutations in the glucocerebrosidase gene of brazilian patients with Gaucher disease. | Siebert M | JIMD reports | 2013 | PMID: 23430543 |
| Histone deacetylase inhibitors increase glucocerebrosidase activity in Gaucher disease by modulation of molecular chaperones. | Yang C | Proceedings of the National Academy of Sciences of the United States of America | 2013 | PMID: 23277556 |
| An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. | Lazarin GA | Genetics in medicine : official journal of the American College of Medical Genetics | 2013 | PMID: 22975760 |
| A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders. | Saranjam H | European journal of human genetics : EJHG | 2013 | PMID: 22713811 |
| A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders. | Saranjam H | European journal of human genetics : EJHG | 2013 | PMID: 22713811 |
| Newborn screening for lysosomal storage disorders in hungary. | Wittmann J | JIMD reports | 2012 | PMID: 23430949 |
| Association of Common Variants in the Glucocerebrosidase Gene with High Susceptibility to Parkinson's Disease among Chinese. | Zhang X | The Chinese journal of physiology | 2012 | PMID: 23286447 |
| Glucocerebrosidase L444P mutation confers genetic risk for Parkinson's disease in central China. | Wang Y | Behavioral and brain functions : BBF | 2012 | PMID: 23227814 |
| Gaucher disease paradigm: from ERAD to comorbidity. | Bendikov-Bar I | Human mutation | 2012 | PMID: 22623374 |
| Progressive mesenteric lymphadenopathy with protein-losing enteropathy; a devastating complication in Gaucher disease. | Lee BH | Molecular genetics and metabolism | 2012 | PMID: 22227073 |
| Gaucher disease: a pyrosequencing frequency analysis of the N370S and L444P mutations in the Spanish population. | García-Rodríguez B | Clinical genetics | 2012 | PMID: 22220748 |
| Glucocerebrosidase N370S and L444P mutations as risk factors for Parkinson's disease in Brazilian patients. | Guimarães Bde C | Parkinsonism & related disorders | 2012 | PMID: 22192918 |
| Histone deacetylase inhibitors prevent the degradation and restore the activity of glucocerebrosidase in Gaucher disease. | Lu J | Proceedings of the National Academy of Sciences of the United States of America | 2011 | PMID: 22160715 |
| Inhibition of endoplasmic reticulum-associated degradation rescues native folding in loss of function protein misfolding diseases. | Wang F | The Journal of biological chemistry | 2011 | PMID: 22006919 |
| Glucocerebrosidase mutations in a French-Canadian Parkinson's disease cohort. | Noreau A | The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques | 2011 | PMID: 21856586 |
| β-Glucocerebrosidase gene mutations in two cohorts of Greek patients with sporadic Parkinson's disease. | Moraitou M | Molecular genetics and metabolism | 2011 | PMID: 21745757 |
| Aggregation of α-synuclein in brain samples from subjects with glucocerebrosidase mutations. | Choi JH | Molecular genetics and metabolism | 2011 | PMID: 21742527 |
| Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies. | Mazzulli JR | Cell | 2011 | PMID: 21700325 |
| Lacidipine remodels protein folding and Ca 2+ homeostasis in Gaucher's disease fibroblasts: a mechanism to rescue mutant glucocerebrosidase. | Wang F | Chemistry & biology | 2011 | PMID: 21700212 |
| Acid β-glucosidase mutants linked to Gaucher disease, Parkinson disease, and Lewy body dementia alter α-synuclein processing. | Cullen V | Annals of neurology | 2011 | PMID: 21472771 |
| Carrier testing for severe childhood recessive diseases by next-generation sequencing. | Bell CJ | Science translational medicine | 2011 | PMID: 21228398 |
| Characterization of the ERAD process of the L444P mutant glucocerebrosidase variant. | Bendikov-Bar I | Blood cells, molecules & diseases | 2011 | PMID: 21106416 |
| Mutational analysis of GIGYF2, ATP13A2 and GBA genes in Brazilian patients with early-onset Parkinson's disease. | Dos Santos AV | Neuroscience letters | 2010 | PMID: 20816920 |
| Association between GBA L444P mutation and sporadic Parkinson's disease from Mainland China. | Mao XY | Neuroscience letters | 2010 | PMID: 20004703 |
| Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. | Neumann J | Brain : a journal of neurology | 2009 | PMID: 19286695 |
| Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset. | Nichols WC | Neurology | 2009 | PMID: 18987351 |
| The need for appropriate genotyping strategies for glucocerebrosidase mutations in cohorts with Parkinson disease. | Gutti U | Archives of neurology | 2008 | PMID: 18541817 |
| Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease Type 3. | Benko WS | Neurology | 2008 | PMID: 18347322 |
| Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). | Hruska KS | Human mutation | 2008 | PMID: 18338393 |
| Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders. | Mata IF | Archives of neurology | 2008 | PMID: 18332251 |
| LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase. | Reczek D | Cell | 2007 | PMID: 18022370 |
| Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease. | Clark LN | Neurology | 2007 | PMID: 17875915 |
| Glucocerebrosidase mutations and risk of Parkinson disease in Chinese patients. | Tan EK | Archives of neurology | 2007 | PMID: 17620502 |
| Mutation analysis and genotype/phenotype relationships of Gaucher disease patients in Spain. | Alfonso P | Journal of human genetics | 2007 | PMID: 17427031 |
| Acute neuronopathic Gaucher disease complicated by fatal gastrointestinal bleeding. | Hoffmann B | Neuropediatrics | 2006 | PMID: 16967369 |
| Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations. | Liou B | The Journal of biological chemistry | 2006 | PMID: 16293621 |
| Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1. | Miocić S | Human mutation | 2005 | PMID: 15605411 |
| Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms. | Montfort M | Human mutation | 2004 | PMID: 15146461 |
| Expression and functional characterization of mutated glucocerebrosidase alleles causing Gaucher disease in Spanish patients. | Alfonso P | Blood cells, molecules & diseases | 2004 | PMID: 14757438 |
| Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease. | Tayebi N | American journal of human genetics | 2003 | PMID: 12587096 |
| Type II Gaucher disease: compound heterozygote with RecNciI and L444P mutations. | Lee YS | Journal of tropical pediatrics | 2001 | PMID: 11336129 |
| Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. | Koprivica V | American journal of human genetics | 2000 | PMID: 10796875 |
| Myoclonus from selective dentate nucleus degeneration in type 3 Gaucher disease. | Verghese J | Archives of neurology | 2000 | PMID: 10714667 |
| Type 2 Gaucher disease: the collodion baby phenotype revisited. | Stone DL | Archives of disease in childhood. Fetal and neonatal edition | 2000 | PMID: 10685993 |
| Type 2 Gaucher disease: the collodion baby phenotype revisited. | Stone DL | Archives of disease in childhood. Fetal and neonatal edition | 2000 | PMID: 10685993 |
| Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease. | Stone DL | Human mutation | 2000 | PMID: 10649495 |
| Two novel polymorphic sequences in the glucocerebrosidase gene region enhance mutational screening and founder effect studies of patients with Gaucher disease. | Lau EK | Human genetics | 1999 | PMID: 10369158 |
| Glucocerebrosidase genotype of Gaucher patients in The Netherlands: limitations in prognostic value. | Boot RG | Human mutation | 1997 | PMID: 9375849 |
| Expression of mutated glucocerebrosidase alleles in human cells. | Pasmanik-Chor M | Human molecular genetics | 1997 | PMID: 9175735 |
| The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease. | Sidransky E | Journal of medical genetics | 1996 | PMID: 8929950 |
| The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease. | Sidransky E | Journal of medical genetics | 1996 | PMID: 8929950 |
| The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease. | Sidransky E | Journal of medical genetics | 1996 | PMID: 8929950 |
| Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression. | Grace ME | The Journal of biological chemistry | 1994 | PMID: 8294487 |
| Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression. | Grace ME | The Journal of biological chemistry | 1994 | PMID: 8294487 |
| RecTL: a complex allele of the glucocerebrosidase gene associated with a mild clinical course of Gaucher disease. | Zimran A | American journal of medical genetics | 1994 | PMID: 8160756 |
| RecTL: a complex allele of the glucocerebrosidase gene associated with a mild clinical course of Gaucher disease. | Zimran A | American journal of medical genetics | 1994 | PMID: 8160756 |
| Mutations causing Gaucher disease. | Horowitz M | Human mutation | 1994 | PMID: 8118460 |
| New Gaucher disease mutations in exon 10: a novel L444R mutation produces a new NciI site the same as L444P. | Uchiyama A | Human molecular genetics | 1994 | PMID: 7981693 |
| Homozygous presence of the crossover (fusion gene) mutation identified in a type II Gaucher disease fetus: is this analogous to the Gaucher knock-out mouse model? | Strasberg PM | Biochemical medicine and metabolic biology | 1994 | PMID: 7857677 |
| Homozygous presence of the crossover (fusion gene) mutation identified in a type II Gaucher disease fetus: is this analogous to the Gaucher knock-out mouse model? | Strasberg PM | Biochemical medicine and metabolic biology | 1994 | PMID: 7857677 |
| Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients. | Horowitz M | American journal of human genetics | 1993 | PMID: 8213821 |
| Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene. | Tybulewicz VL | Nature | 1992 | PMID: 1594045 |
| Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene. | Sidransky E | Pediatric research | 1992 | PMID: 1437405 |
| Heterogeneity of mutations in the acid beta-glucosidase gene of Gaucher disease patients. | Latham TE | DNA and cell biology | 1991 | PMID: 1899336 |
| Heterogeneity of mutations in the acid beta-glucosidase gene of Gaucher disease patients. | Latham TE | DNA and cell biology | 1991 | PMID: 1899336 |
| Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene. | Dahl N | American journal of human genetics | 1990 | PMID: 2378352 |
| Complex alleles of the acid beta-glucosidase gene in Gaucher disease. | Latham T | American journal of human genetics | 1990 | PMID: 2349952 |
| Complex alleles of the acid beta-glucosidase gene in Gaucher disease. | Latham T | American journal of human genetics | 1990 | PMID: 2349952 |
| Genotype assignment in Gaucher disease by selective amplification of the active glucocerebrosidase gene. | Firon N | American journal of human genetics | 1990 | PMID: 2309702 |
| A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder. | Zimran A | The Journal of clinical investigation | 1990 | PMID: 2295698 |
| Sequence of two alleles responsible for Gaucher disease. | Hong CM | DNA and cell biology | 1990 | PMID: 1972019 |
| Sequence of two alleles responsible for Gaucher disease. | Hong CM | DNA and cell biology | 1990 | PMID: 1972019 |
| Prediction of severity of Gaucher's disease by identification of mutations at DNA level. | Zimran A | Lancet (London, England) | 1989 | PMID: 2569551 |
| Characterization of mutations in Gaucher patients by cDNA cloning. | Wigderson M | American journal of human genetics | 1989 | PMID: 2464926 |
| Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals. | Tsuji S | Proceedings of the National Academy of Sciences of the United States of America | 1988 | PMID: 3353383 |
| A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease. | Tsuji S | The New England journal of medicine | 1987 | PMID: 2880291 |
| http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=GBA | - | - | - | - |
| http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=GBA | - | - | - | - |
| http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=GBA | - | - | - | - |
| https://erepo.clinicalgenome.org/evrepo/ui/interpretation/b929ba0d-8dd5-49ad-82bc-61c570246b2f | - | - | - | - |
| - | - | - | - | DOI: 10.1056/NEJM198703053161002 |
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Text-mined citations for this variant ...
HelpRecord last updated Nov 10, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.