NM_015922.3(NSDHL):c.613G>A (p.Gly205Ser) AND Child syndrome

Clinical significance:Pathogenic (Last evaluated: Feb 1, 2011)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000012180.12

Allele description [Variation Report for NM_015922.3(NSDHL):c.613G>A (p.Gly205Ser)]

NM_015922.3(NSDHL):c.613G>A (p.Gly205Ser)

Gene:
NSDHL:NAD(P) dependent steroid dehydrogenase-like [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_015922.3(NSDHL):c.613G>A (p.Gly205Ser)
HGVS:
  • NC_000023.11:g.152865888G>A
  • NG_009163.2:g.39922G>A
  • NM_001129765.1:c.613G>A
  • NM_001129765.2:c.613G>A
  • NM_015922.3:c.613G>AMANE SELECT
  • NP_001123237.1:p.Gly205Ser
  • NP_001123237.1:p.Gly205Ser
  • NP_057006.1:p.Gly205Ser
  • NC_000023.10:g.152034432G>A
  • Q15738:p.Gly205Ser
Protein change:
G205S; GLY205SER
Links:
UniProtKB: Q15738#VAR_010208; OMIM: 300275.0002; dbSNP: rs104894901
NCBI 1000 Genomes Browser:
rs104894901
Molecular consequence:
  • NM_001129765.1:c.613G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129765.2:c.613G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015922.3:c.613G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Child syndrome
Synonyms:
Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects; Ichthyosis, CHILD syndrome
Identifiers:
MONDO: MONDO:0010621; MedGen: C0265267; Orphanet: 139; OMIM: 308050

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000032414OMIMno assertion criteria providedPathogenic
(Feb 14, 2000)
germlineliterature only

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

SCV000040835GeneReviewsno assertion criteria providedpathologic
(Feb 1, 2011)
not providedcuration

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot providednot providednot providedcuration
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome.

K├Ânig A, Happle R, Bornholdt D, Engel H, Grzeschik KH.

Am J Med Genet. 2000 Feb 14;90(4):339-46. Review.

PubMed [citation]
PMID:
10710235

Details of each submission

From OMIM, SCV000032414.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Konig et al. (2000) identified a patient with CHILD syndrome (308050) who had a G-to-A transition in exon 6 (613G-A) of the NSDHL gene, predicted to result in a gly205-to-ser missense mutation.

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

From GeneReviews, SCV000040835.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Oct 24, 2021

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