Non-syndromic hypotrichosis
Gene: KRT71Comment when marking as ready: Human KRT71 hypotrichosis mutations currently only reported in 1 family (PMID:22592156), therefore rating remains as red.Created: 23 Jan 2017, 3:52 p.m.
PMID:22592156 (Fujimoto et al., 2012) identify heterozygosity for a c.422T-G transversion in KRT71 in 3 affected members of a Japenese family with HYPT13 (OMIM:615896).Created: 23 Jan 2017, 3:49 p.m.
Good animal evidence but limited in humans (one family)Created: 21 Jan 2017, 11:32 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
woolly hair; hypotrichosis
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).
Phenotypes for KRT71 were set to ?Hypotrichosis 13, 615896; HYPT13; woolly hair; hypotrichosis
Mode of inheritance for KRT71 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
KRT71 was added to Non-syndromic hypotrichosispanel. Source: Radboud University Medical Center, Nijmegen
KRT71 was added to Non-syndromic hypotrichosispanel. Sources: Other
KRT71 was created by rfoulger