Non-syndromic hypotrichosis
Gene: KRT74Comment on list classification: Updated rating from Amber to Green: Although only 1 case of Hypotrichosis, there are additional Woolly hair cases that could be considered hypotrichosis (see Reviewer's comments).Created: 20 Feb 2017, 2 p.m.
Comment on list classification: Updated rating from Red to Amber: 1 case of hypotrichosis (PMID:21188418), 1 case of ecotodermal dysplasia hair/nail (PMID:24714551, Alice previously commented that if ectodermal dysplasia is mild, the hypotrichosis could be the main presenting phenotype), and 2 Pakistani cases of Woolly hair.Created: 16 Feb 2017, 9:46 a.m.
Comment on KRT74 from Celia Moss to support her Green rating of the gene: There are Pakistani families with woolly hair and this term is sometimes used synonymously with hypotrichosis (woolly hair is usually fine, short and sparse although hypotrichosis is not necessarily wooly). So I considered those families to have hypotrichosis.Created: 16 Feb 2017, 9:42 a.m.
Comment on mode of inheritance: Mode of inheritance confirmed by PMID:21188418.Created: 24 Jan 2017, 3:07 p.m.
In affected members of a consanguineous Pakistani family segregating autosomal dominant hypotrichosis simplex of the scalp (HYPT3; OMIM:613981), Wasif et al. (2011, PMID:21188418) identified a heterozygous 1444G-A transition in KRT74 (D482N). The mutation was not detected in 300 unrelated control individuals.Created: 24 Jan 2017, 3:02 p.m.
May be associated with nail abnormalities so not strictly non-syndromicCreated: 20 Jan 2017, 5:10 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypotrichosis 3; Woolly hair, autosomal dominant
Phenotypes for gene: KRT74 were changed from hypotrichosis simplex of the scalp; Hypotrichosis 3, 613981; HYPT3 to Hypotrichosis 3, OMIM:613981; HYPT3
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.
Phenotypes for KRT74 were set to hypotrichosis simplex of the scalp; Hypotrichosis 3, 613981; HYPT3;
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Mode of inheritance for KRT74 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance for KRT74 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
KRT74 was added to Non-syndromic hypotrichosispanel. Source: Radboud University Medical Center, Nijmegen
KRT74 was created by rfoulger
KRT74 was added to Non-syndromic hypotrichosispanel. Sources: Other