Ectodermal dysplasia without a known gene mutation

Gene: TSPEAR

Green List (high evidence)

TSPEAR (thrombospondin type laminin G domain and EAR repeats)
EnsemblGeneIds (GRCh38): ENSG00000175894
EnsemblGeneIds (GRCh37): ENSG00000175894
OMIM: 612920, Gene2Phenotype
TSPEAR is in 3 panels

1 review

Rebecca Foulger (Genomics England curator)

PMID: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, Literature
Created: 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, 618180
OMIM
612920
Clinvar variants
Variants in TSPEAR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: tspear has been classified as Green List (High Evidence).

31 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

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