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Mendeliome

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 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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, 3:17 a.m. | Last Modified: 6 Jan 2021, 3:17 a.m.
Panel Version: 0.5987

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

6 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tacstd2 has been classified as Green List (High Evidence).

6 Jan 2021, Gel status: 3

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

6 Jan 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TACSTD2 were set to

6 Jan 2021, Gel status: 3

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

17 Nov 2019, Gel status: 3

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 Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TACSTD2 was set to Unknown