Ectodermal dysplasiaGene: HR
Comment on list classification: Updated rating from Red to Green after clinical discussion: 1 Green review, multiple 5'UTR HR variants causing Hypotrichosis (146550). Plus >3 cases of HR variants causing Atrichia with papular lesions, which includes 'Hypotrichosis' as a phenotype.
Created: 2 Feb 2017, 4 p.m.
Added the tags 'non-coding known pathogenic', 'promoter' and 'curated variant list' based on the 4 reported variants in OMIM, all of which are reported to be in the 5'UTR of HR (in an ORF designated U2HR which encodes a (predicted?) peptide which modulates the translation of HR mRNA), with pathogenic clinical significance (rs267606869, rs267606868, rs267606867, rs387906382). See PMID:26269244, 24261346 etc for discussion of the U2HR ORF.
Created: 2 Feb 2017, 3:56 p.m.
Comment on mode of pathogenicity: Hypotrichosis 4 (OMIM:146550, also called Marie Unna hereditary hypotrichosis) is caused by mutations in an ORF (designated U2HR) in the 5'UTR of the HR gene. The ORF appears to encode a short peptide which controls the translation of HR mRNA.
Created: 24 Jan 2017, 4:24 p.m.
Comment on phenotypes: Mutations in the HR gene are also causative of Alopecia universalis (OMIM:203655) and Atrichia with papular lesions (OMIM:209500), both with biallelic inheritance. For Atrichia with papular lesions (OMIM:209500), 'Hypotrichosis' iis recorded in the OMIM Clinical synopsis.
Created: 24 Jan 2017, 4:03 p.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM.
Created: 23 Jan 2017, 4:38 p.m.
Created: 20 Jan 2017, 5:01 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Alopecia universalis; Atrichia with papular lesions; Hypotrichosis 4
gene: HR was added gene: HR was added to Ectodermal dysplasia. Sources: Expert Review Green Mode of inheritance for gene: HR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HR were set to HYPT4; Marie Unna hereditary hypotrichosis 1 (MUHH1); Marie Unna hereditary hypotrichosis (MUHH); Hypotrichosis 4, 146550 Mode of pathogenicity for gene: HR was set to Other - please provide details in the comments