Corneal abnormalities
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

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Expert review green and more than 3 cases/families reported.
Created: 15 Feb 2017, 4:50 p.m.

Created: 15 Feb 2017, 4:50 p.m.

Panel version: 0.25

Chris Campbell (NHS)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
gelatinous drop-like corneal dystrophy (GDLD), AR, paediatric

Publications

7665234

Variants in this GENE are reported as part of current diagnostic practice

Created: 7 Feb 2017, 5:35 p.m.

Panel version: 0.3

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
GDL Corneal Abnormalities panel
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services

Phenotypes

Corneal Dystrophy, Dominant/Recessive
Corneal dystrophy, gelatinous drop-like, 204870

OMIM

137290

Clinvar variants

Variants in TACSTD2

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

9 Mar 2017, Gel status: 4

panel promoted to version 1

Chris Campbell (GEL)

09/03/2017 Revised and approved to Version 1.0 after expert and internal review.

15 Feb 2017, Gel status: 4