Non-syndromic hypotrichosis
Gene: LPAR6Comment on mode of inheritance: OMIM supports a biallelic inheritance: mutations in LPAR6 cause autosomal recessive hypotrichosis (OMIM:278150).Created: 23 Jan 2017, 4:01 p.m.
Comment on list classification: Updated rating from Red to Green: 1 Green review plus >3 cases of LPAR6 mutations causing hypotrichosis (OMIM:278150) in a few populations (Saudi Arabian, Turkish and Pakistani).Created: 23 Jan 2017, 3:59 p.m.
Well-established. Phenotype is variable within familiesCreated: 21 Jan 2017, 10:47 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.
Phenotypes for LPAR6 were set to Hypotrichosis 8, 278150; Hereditary hypotrichosis simplex (HHS); Hypotrichosis simplex (HS); localized autosomal recessive hypotrichosis-3 (LAH3); Autosomal recessive hypotrichosis; Hypotrichosis 8; HYPT8; Woolly hair, autosomal recessive 1, with or without hypotrichosis, 278150
Phenotypes for gene LPAR6 were set to Hypotrichosis 8, 278150;Hereditary hypotrichosis simplex (HHS);Hypotrichosis simplex (HS);localized autosomal recessive hypotrichosis-3 (LAH3);Autosomal recessive hypotrichosis;Hypotrichosis 8;HYPT8;woolly hair;hypotrichosis
Mode of inheritance for LPAR6 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Phenotypes for LPAR6 were set to Hypotrichosis 8, 278150; ; Hereditary hypotrichosis simplex; Hypotrichosis simplex; HS; HHS; LAH3; localized autosomal recessive hypotrichosis-3; Autosomal recessive hypotrichosis; Hypotrichosis 8; HYPT8; woolly hair; hypotrichosis
Phenotypes for gene LPAR6 were set to Hypotrichosis 8, 278150;Hereditary hypotrichosis simplex (HHS); Hypotrichosis simplex (HS); localized autosomal recessive hypotrichosis-3 (LAH3); Autosomal recessive hypotrichosis; Hypotrichosis 8; HYPT8
LPAR6 was added to Non-syndromic hypotrichosispanel. Source: Other Model of inheritance for gene LPAR6 was set to BIALLELIC, autosomal or pseudoautosomal
LPAR6 was created by rfoulger
LPAR6 was added to Non-syndromic hypotrichosispanel. Sources: Radboud University Medical Center, Nijmegen