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NC_000023.10:g.118373226_118500408del AND Developmental cataract

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 1, 2020
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001376649.2

Allele description [Variation Report for NC_000023.10:g.118373226_118500408del]

NC_000023.10:g.118373226_118500408del

Gene:
PGRMC1:progesterone receptor membrane component 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xq24
Genomic location:
ChrX: 118373226 - 118500408 (on Assembly GRCh37)
Preferred name:
NC_000023.10:g.118373226_118500408del
HGVS:
NC_000023.10:g.118373226_118500408del

Condition(s)

Name:
Developmental cataract
Synonyms:
Congenital cataract; Congenital cataracts
Identifiers:
MedGen: C0009691; Human Phenotype Ontology: HP:0000519

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001450779Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Dec 1, 2020) 		germlineresearch

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataract.

Jones JL, Corbett MA, Yeaman E, Zhao D, Gecz J, Gasperini RJ, Charlesworth JC, Mackey DA, Elder JE, Craig JE, Burdon KP.

Eur J Hum Genet. 2021 Aug;29(8):1206-1215. doi: 10.1038/s41431-021-00889-8. Epub 2021 Apr 19.

PubMed [citation]
PMID:
33867527
PMCID:
PMC8385038

Details of each submission

From Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania, SCV001450779.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024