Cataract
Gene: TAPT1EnsemblGeneIds (GRCh38): ENSG00000169762
EnsemblGeneIds (GRCh37): ENSG00000169762
OMIM: 612758, Gene2Phenotype
TAPT1 is in 6 panels
1 review
Paul De Fazio (Victorian Clinical Genetics Services)
PMID: 36697720 - reports a patient with a biallelic frameshift variant in an infant with bilateral cateract, dysmorphic features, poor weight gain, and clinical symptoms reminiscent of osteogenesis imperfecta. A zebrafish knockout model showed aberrant lens development but no visible skeletal involvement.
Sources: LiteratureCreated: 1 Jun 2023, 2:12 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897)
- OMIM
- 612758
- Clinvar variants
- Variants in TAPT1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: tapt1 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: tapt1 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Paul De Fazio (Victorian Clinical Genetics Services)gene: TAPT1 was added gene: TAPT1 was added to Cataract. Sources: Literature Mode of inheritance for gene: TAPT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAPT1 were set to 36697720; 36652330 Phenotypes for gene: TAPT1 were set to Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897) Review for gene: TAPT1 was set to RED gene: TAPT1 was marked as current diagnostic