Bilateral congenital or childhood onset cataracts
Gene: TAPT1

TAPT1 (transmembrane anterior posterior transformation 1)
EnsemblGeneIds (GRCh38): ENSG00000169762
EnsemblGeneIds (GRCh37): ENSG00000169762
OMIM: 612758, Gene2Phenotype
TAPT1 is in 10 panels

1 review

Ivone Leong (Genomics England Curator)

I don't know

TAPT1 is associated with a phenotype on OMIM and Gene2Phenotype; however this phenotype is not associated with the eyes. It is a green gene on the Fetal anomalies panel (code 478, version 0.339). PMID: 27878435 reported a consanguineous family with a splice site variant that caused a frameshift mutation. The same paper also performed mouse studies and found that the gene is down regulated in key gene knockout mice with lens defects. Therefore, there is currently not enough evidence for this gene to be promoted to green status.
Created: 28 Aug 2019, 3:43 p.m. | Last Modified: 28 Aug 2019, 3:54 p.m.

Panel Version: 1.32

Publications

27878435

Created: 28 Aug 2019, 3:43 p.m.
Last Modified: 28 Aug 2019, 3:54 p.m.
Panel version: 1.32

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Literature

Phenotypes

Pediatric posterior lenticonus cataract

OMIM

612758

Clinvar variants

Variants in TAPT1

Penetrance

None

Publications

27878435

Panels with this gene

History Filter Activity

28 Aug 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: TAPT1 was added gene: TAPT1 was added to Cataracts. Sources: Literature,Expert Review Red Mode of inheritance for gene: TAPT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAPT1 were set to 27878435 Phenotypes for gene: TAPT1 were set to Pediatric posterior lenticonus cataract

Bilateral congenital or childhood onset cataracts Gene: TAPT1