NC_000014.9:g.(?_54842017)_(54902826_?)del AND Dystonia 5

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 2007
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000009874.5

Allele description [Variation Report for NC_000014.9:g.(?_54842017)_(54902826_?)del]

NC_000014.9:g.(?_54842017)_(54902826_?)del

Genes:

LOC130055686:ATAC-STARR-seq lymphoblastoid active region 8418 [Gene]
LOC130055687:ATAC-STARR-seq lymphoblastoid active region 8419 [Gene]
LOC130055688:ATAC-STARR-seq lymphoblastoid active region 8420 [Gene]
LOC130055689:ATAC-STARR-seq lymphoblastoid active region 8421 [Gene]
LOC130055690:ATAC-STARR-seq lymphoblastoid silent region 5774 [Gene]
LOC130055691:ATAC-STARR-seq lymphoblastoid silent region 5775 [Gene]
LOC130055692:ATAC-STARR-seq lymphoblastoid silent region 5776 [Gene]
MIR4308:microRNA 4308 [Gene - HGNC]
GCH1:GTP cyclohydrolase 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

14q22.2

Genomic location:

Chr14: 54842017 - 54902826 (on Assembly GRCh38)

Preferred name:

NC_000014.9:g.(?_54842017)_(54902826_?)del

Other names:

GCH1, DEL

HGVS:

NC_000014.9:(?_54842017)_(54902826_?)del
NC_000014.9:g.(?_54842017)_(54902826_?)del

Nucleotide change:

DEL

Links:

OMIM: 600225.0021

Condition(s)

Name:: Dystonia 5 (DRD)
Synonyms:: Dystonia 5, Dopa-responsive type; Dystonia, progressive, with diurnal variation; Dystonia-Parkinsonism with diurnal fluctuation; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007495; MedGen: C1851920; Orphanet: 98808; OMIM: 128230

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000030095	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 2007)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000030095

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 2007)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia.

Steinberger D, Trübenbach J, Zirn B, Leube B, Wildhardt G, Müller U.

Neurogenetics. 2007 Jan;8(1):51-5. Epub 2006 Nov 17. Erratum in: Neurogenetics. 2007 Jan;8(1):69.

PubMed [citation]

PMID:: 17111153

Details of each submission

From OMIM, SCV000030095.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In 3 affected members of a 2-generation family with DRD (128230), Steinberger et al. (2007) identified a heterozygous complete deletion of the GCH1 gene. The findings suggested that the phenotype results from haploinsufficiency rather than a dominant-negative effect.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 15, 2024

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