Ectodermal dysplasiaGene: LPAR6
Comment 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 families
Created: 21 Jan 2017, 10:47 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
woolly hair; hypotrichosis
gene: LPAR6 was added gene: LPAR6 was added to Ectodermal dysplasia. Sources: Expert Review Green Mode of inheritance for gene: LPAR6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LPAR6 were set to 21426374; 21070332; 18461368 Phenotypes for gene: LPAR6 were set to Hypotrichosis 8; Woolly hair, autosomal recessive 1, with or without hypotrichosis, 278150; HYPT8; localized autosomal recessive hypotrichosis-3 (LAH3); Autosomal recessive hypotrichosis; Hereditary hypotrichosis simplex (HHS); Hypotrichosis simplex (HS); Hypotrichosis 8, 278150