Ectodermal dysplasia without a known gene mutation
Gene: TSPEARPMID:27736875 (Peled et al., 2016) identified 2 frameshift and 2 missense variants in TSPEAR segregating with ectodermal dysplasias (MIM:618180) in 3 unrelated families (5 patients): two consanguineous families of Arab Moslem origin and one Jewish Ashkenazi family. The novel form of ectodermal dysplasia was characterized by oligodontia, alopecia and facial dysmorphism.Created: 31 Jan 2019, 4:11 p.m.
Comment on list classification: Set rating to Green: Gene added and rated Green by Tom Cullup (GOSH) on the 'Ectodermal dysplasia' panel. Sufficient cases (3 unrelated families from 2 ethnicities) in PMID:27736875 for diagnostic-grade rating.Created: 31 Jan 2019, 4:11 p.m.
TSPEAR was added to the 'Ectodermal dysplasia' panel and rated Green by Tom Cullup (GOSH). TSPEAR is also therefore appropriate for this 'Ectodermal dysplasia without a known gene mutation' panel.
Sources: Expert list, LiteratureCreated: 31 Jan 2019, 4:10 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, 618180
Publications
Gene: tspear has been classified as Green List (High Evidence).
gene: TSPEAR was added gene: TSPEAR was added to Ectodermal dysplasia without a known gene mutation. Sources: Expert list,Literature Mode of inheritance for gene: TSPEAR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TSPEAR were set to 27736875 Phenotypes for gene: TSPEAR were set to Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, 618180