Structural eye disease
Gene: TACSTD2

TACSTD2 (tumor associated calcium signal transducer 2)
EnsemblGeneIds (GRCh38): ENSG00000184292
EnsemblGeneIds (GRCh37): ENSG00000184292
OMIM: 137290, Gene2Phenotype
TACSTD2 is in 3 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

FC - I am not sure about the phenotype. An example of segregating mutations in consanguineous families is PMID: 29988226
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Corneal dystrophy, gelatinous drop-like; 204870

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). FC - I am not sure about the phenotype. An example of segregating mutations in consanguineous families is PMID: 29988226
Created: 17 Apr 2019, 3:31 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Corneal dystrophy, gelatinous drop-like; 204870

Created: 17 Apr 2019, 3:31 p.m.

Panel version: 0.49

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS

Phenotypes

Corneal dystrophy, gelatinous drop-like, 204870

OMIM

137290

Clinvar variants

Variants in TACSTD2

Penetrance

None

Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: TACSTD2 was added gene: TACSTD2 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: TACSTD2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TACSTD2 were set to Corneal dystrophy, gelatinous drop-like, 204870

Structural eye disease Gene: TACSTD2