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| Bilateral congenital or childhood onset cataracts v1.32 | TAPT1 | Ivone Leong changed review comment from: TAPT1 is associated with a phenotype on OMIM and Gene2Phenotype; however this phenotype is not associated with any eye phenotype. 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.; to: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v1.32 | TAPT1 | Ivone Leong reviewed gene: TAPT1: Rating: AMBER; Mode of pathogenicity: ; Publications: 27878435; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v1.30 | TAPT1 |
Ivone Leong 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 |
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