Non-syndromic hypotrichosis
Gene: RPL21Comment when marking as ready: Currently insufficient evidence to promote to Green.Created: 26 Jan 2017, 1:23 p.m.
Comment on list classification: Kept rating as Red: Only 2 cases of RPL21 mutations reported in 2011 (PMID:21412954).Created: 24 Jan 2017, 4:39 p.m.
Reported in 2 large Chinese families 5-6 years ago. Rather surprising that nobody else has reported it since then.Created: 21 Jan 2017, 11:35 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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).
Phenotypes for gene RPL21 were set to Hereditary hypotrichosis simplex (HHS); Hypotrichosis simplex (HS); HYPT12; Hypotrichosis 12, 615885;
Mode of inheritance for RPL21 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
RPL21 was added to Non-syndromic hypotrichosispanel. Source: Radboud University Medical Center, Nijmegen
RPL21 was created by rfoulger
RPL21 was added to Non-syndromic hypotrichosispanel. Sources: Other