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NC_000023.10:g.(?_18660114)_(19377781_?)del AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 9, 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:
RCV001391037.1

Allele description

NC_000023.10:g.(?_18660114)_(19377781_?)del

Genes:
  • ADGRG2:adhesion G protein-coupled receptor G2 [Gene - OMIM - HGNC]
  • CDKL5:cyclin dependent kinase like 5 [Gene - OMIM - HGNC]
  • PHKA2:phosphorylase kinase regulatory subunit alpha 2 [Gene - OMIM - HGNC]
  • PPEF1:protein phosphatase with EF-hand domain 1 [Gene - OMIM - HGNC]
  • PDHA1:pyruvate dehydrogenase E1 subunit alpha 1 [Gene - OMIM - HGNC]
  • RS1:retinoschisin 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xp22.13-22.12
Genomic location:
ChrX: 18660114 - 19377781 (on Assembly GRCh37)
Preferred name:
NC_000023.10:g.(?_18660114)_(19377781_?)del
HGVS:
NC_000023.10:g.(?_18660114)_(19377781_?)del

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001592970Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Oct 9, 2020) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium.

[No authors listed]

Hum Mol Genet. 1998 Jul;7(7):1185-92.

PubMed [citation]
PMID:
9618178

X-linked retinoschisis: an update.

Sikkink SK, Biswas S, Parry NR, Stanga PE, Trump D.

J Med Genet. 2007 Apr;44(4):225-32. Epub 2006 Dec 15. Review.

PubMed [citation]
PMID:
17172462
PMCID:
PMC2598044
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV001592970.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

A gross deletion of the genomic region encompassing the full coding sequence of the RS1 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals with RS1-related conditions. Loss-of-function variants in RS1 are known to be pathogenic (PMID: 9618178, 17172462). For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 9, 2023