Retinal disorders
Gene: TRAF3IP1

TRAF3IP1 (TRAF3 interacting protein 1)
EnsemblGeneIds (GRCh38): ENSG00000204104
EnsemblGeneIds (GRCh37): ENSG00000204104
OMIM: 607380, Gene2Phenotype
TRAF3IP1 is in 7 panels

2 reviews

Ivone Leong (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 8 Mar 2022, 10:06 a.m. | Last Modified: 8 Mar 2022, 10:06 a.m.

Panel Version: 2.243

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be Green at the next review.
Created: 27 Jan 2021, 3:15 p.m. | Last Modified: 27 Jan 2021, 3:15 p.m.

Panel Version: 2.150

Created: 27 Jan 2021, 3:15 p.m.
Last Modified: 27 Jan 2021, 3:15 p.m.
Panel version: 2.243

Zornitza Stark (Australian Genomics)

Green List (high evidence)

At least 5 families reported with retinal degeneration as a feature of the condition and a zebrafish model with retinal degeneration.
Sources: Expert list
Created: 15 Oct 2020, 2:37 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Senior-Loken syndrome 9, MIM#616629

Publications

26487268

Created: 15 Oct 2020, 2:37 a.m.

Panel version: 2.20

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Senior-Loken syndrome 9, OMIM:616629

OMIM

607380

Clinvar variants

Variants in TRAF3IP1

Penetrance

None

Publications

26487268

Panels with this gene