Non-syndromic hypotrichosis
Gene: DSC3Comment when marking as ready: Currently insufficient evidence to promote to Green.Created: 26 Jan 2017, 1:24 p.m.
Comment on list classification: Kept rating as red based on 1 red review and 1 report (PMID:19765682, Ayub et al., 2009) which detects a homozygous nonsense mutation (c.2129T>G [p.Leu710X]) in the DSC3 gene in 4 individuals in a family from Afghanistan.Created: 24 Jan 2017, 2:57 p.m.
Comment on mode of inheritance: OMIM supports a Biallelic mode of inheritance, based on the one report in which PMID:19765682 detect a homozygous nonsense mutation (c.2129T>G [p.Leu710X]) in the DSC3 gene.Created: 24 Jan 2017, 2:52 p.m.
Uncertainty about the bistersCreated: 21 Jan 2017, 11:24 a.m.
Single family reportedCreated: 20 Jan 2017, 4:55 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
hypotrichosis; blisters
20 February 2017: Panel review was assessed, and panel was revised according to expert review and additional curation. Queried with the expert reviewer whether the 'Non-syndromic hypotrichosis' and 'cicatricial alopecia' panels should be combined based on overlapping phenotypes. Celia Moss commented that dermatologists consider cicatricial (scarring) alopecia distinct from simple hypotrichosis (in which there is no scarring); therefore have kept the panels separate.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for DSC3 was changed to BIALLELIC, autosomal or pseudoautosomal
DSC3 was added to Non-syndromic hypotrichosispanel. Source: Radboud University Medical Center, Nijmegen
DSC3 was added to Non-syndromic hypotrichosispanel. Sources: Other
DSC3 was created by rfoulger