DDG2P
Gene: TSPEAR

TSPEAR (thrombospondin type laminin G domain and EAR repeats)
EnsemblGeneIds (GRCh38): ENSG00000175894
EnsemblGeneIds (GRCh37): ENSG00000175894
OMIM: 612920, Gene2Phenotype
TSPEAR is in 4 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease TSPEAR-related ectodermal dysplasia and tooth agenesis is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure (PMID: 27736875;34042254;37009414).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.

Panel Version: 4.10

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
TSPEAR-related ectodermal dysplasia and tooth agenesis

Publications

Created: 26 Sep 2024, 8:30 p.m.
Last Modified: 26 Sep 2024, 8:30 p.m.
Panel version: 4.10

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

TSPEAR-related ectodermal dysplasia and tooth agenesis

OMIM

612920

Clinvar variants

Variants in TSPEAR

Penetrance

None

Publications

Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: TSPEAR was added gene: TSPEAR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TSPEAR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TSPEAR were set to 34042254; 27736875; 37009414 Phenotypes for gene: TSPEAR were set to TSPEAR-related ectodermal dysplasia and tooth agenesis

DDG2P Gene: TSPEAR