Corneal dystrophies

Gene: TACSTD2

Green List (high evidence)

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

1 review

Morag Shanks (Oxford Medical Genetics laboratory)

Green List (high evidence)

Manchester panel
Created: 1 Apr 2019, 2:30 p.m.

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Corneal dystrophy, gelatinous drop-like 204870
OMIM
137290
Clinvar variants
Variants in TACSTD2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: TACSTD2 was added gene: TACSTD2 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green Mode of inheritance for gene: TACSTD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TACSTD2 were set to 17898270; 10192395 Phenotypes for gene: TACSTD2 were set to Corneal dystrophy, gelatinous drop-like 204870