Ectodermal dysplasia
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
gene: LIPH was added gene: LIPH was added to Ectodermal dysplasia. Sources: Expert Review Green Mode of inheritance for gene: LIPH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIPH were set to Hypotrichosis 7, 604379; HYPT7; localized autosomal recessive hypotrichosis-2 (LAH2); Autosomal recessive hypotrichosis; Hereditary hypotrichosis simplex (HHS); Hypotrichosis simplex (HS); Woolly hair, autosomal recessive 2 with or without hypotrichosis, 604379