Non-syndromic hypotrichosis
Gene: LIPHAdded 'deletions' tag: Reported LIPH variants for Hypotrichosis 7 (OMIM:604379) include (but not limited to) deletion of Exon 4, and a Exon7-8 deletion.Created: 24 Jan 2017, 5:11 p.m.
Comment on list classification: Updated rating from Red to Green: Not a DDG2P confirmed gene but 1 Green review plus 3 unrelated cases of LIPH variants causing Hypotrichosis 7 (OMIM:604379). Further LIPH variants for Woolly hair, autosomal recessive 2 with or without hypotrichosis (OMIM:604379).Created: 24 Jan 2017, 3:44 p.m.
Comment on mode of inheritance: OMIM and the literature (homozygous LIPH mutations detected in PMID:17095700, PMID:17333281 and PMID:18445047) support a biallelic mode of inheritance.Created: 24 Jan 2017, 3:41 p.m.
Well-established. Phenotype is variable within familesCreated: 21 Jan 2017, 10:44 a.m.
Well-esrablished. Phenotype is variable within familesCreated: 21 Jan 2017, 10:44 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 Green List (High Evidence).
Phenotypes for LIPH were set to Hereditary hypotrichosis simplex (HHS); Hypotrichosis simplex (HS); localized autosomal recessive hypotrichosis-2 (LAH2); Autosomal recessive hypotrichosis; Hypotrichosis 7, 604379; HYPT7; Woolly hair, autosomal recessive 2 with or without hypotrichosis, 604379
Mode of inheritance for LIPH was changed to BIALLELIC, autosomal or pseudoautosomal
LIPH was added to Non-syndromic hypotrichosispanel. Source: Radboud University Medical Center, Nijmegen
LIPH was added to Non-syndromic hypotrichosispanel. Sources: Other
LIPH was created by rfoulger