Corneal Dystrophy
Gene: TACSTD2EnsemblGeneIds (GRCh38): ENSG00000184292
EnsemblGeneIds (GRCh37): ENSG00000184292
OMIM: 137290, Gene2Phenotype
TACSTD2 is in 2 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Gelatinous drop-like corneal dystrophy is an autosomal recessive disorder characterised by severe corneal amyloidosis leading to blindness. Clinical manifestations, which appear in the first decade of life, include blurred vision, photophobia, and foreign-body sensation. By the third decade, raised, yellowish-gray, gelatinous masses severely impair visual acuity.
More than 5 unrelated families reported.Created: 6 Jan 2021, 3:15 a.m. | Last Modified: 6 Jan 2021, 3:15 a.m.
Panel Version: 0.65
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Corneal dystrophy, gelatinous drop-like, MIM# 204870
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Corneal dystrophy, gelatinous drop-like, MIM# 204870
- OMIM
- 137290
- Clinvar variants
- Variants in TACSTD2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tacstd2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TACSTD2 were changed from to Corneal dystrophy, gelatinous drop-like, MIM# 204870
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: TACSTD2 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: TACSTD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TACSTD2 was added gene: TACSTD2 was added to Corneal Dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TACSTD2 was set to Unknown