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Non-syndromic hypotrichosis v1.14 HR Sarah Leigh Added comment: Comment on phenotypes: Monoallleic HRURF variants are associated with Hypotrichosis 4, OMIM:146550
Non-syndromic hypotrichosis v1.14 HR Sarah Leigh Phenotypes for gene: HR were changed from Marie Unna hereditary hypotrichosis (MUHH); Alopecia universalis, OMIM:203655 to Alopecia universalis, OMIM:203655; Atrichia with papular lesions, OMIM:209500
Non-syndromic hypotrichosis v1.13 HR Sarah Leigh reviewed gene: HR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Non-syndromic hypotrichosis v1.11 HR Arina Puzriakova Phenotypes for gene: HR were changed from Hypotrichosis 4, 146550; HYPT4; Marie Unna hereditary hypotrichosis 1 (MUHH1); Marie Unna hereditary hypotrichosis (MUHH) to Marie Unna hereditary hypotrichosis (MUHH); Alopecia universalis, OMIM:203655
Non-syndromic hypotrichosis v1.10 HR Arina Puzriakova Added comment: Comment on mode of inheritance: Updated MOI from 'monoallelic' to 'both mono- and biallelic'. Heterozygous variants in the 5'UTR of HR have been shown to cause Marie Unna hereditary hypotrichosis while homozygous variants have been associated with Alopecia universalis (MIM# 203655) and Atrichia with papular lesions (MIM# 209500), therefore both inheritance patterns are relevant to this panel.
Non-syndromic hypotrichosis v1.10 HR Arina Puzriakova Mode of inheritance for gene: HR was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Non-syndromic hypotrichosis HR Rebecca Foulger classified HR as green
Non-syndromic hypotrichosis HR Rebecca Foulger edited their review of HR
Non-syndromic hypotrichosis HR Rebecca Foulger commented on HR
Non-syndromic hypotrichosis HR Celia Moss reviewed HR