Ophthalmological ciliopathies

Gene: TRAF3IP1

Green List (high evidence)

TRAF3IP1 (TRAF3 interacting protein 1)
EnsemblGeneIds (GRCh38): ENSG00000204104
EnsemblGeneIds (GRCh37): ENSG00000204104
OMIM: 607380, Gene2Phenotype
TRAF3IP1 is in 9 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Mutations identified in 8 individuals from 5 unrelated families. Supported by animal models
Created: 25 Jan 2017, 9:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Senior-Loken syndrome 9 616629



History Filter Activity

8 Jul 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: TRAF3IP1 was added gene: TRAF3IP1 was added to Ophthalmological ciliopathies. Sources: Orphanet,Expert Review Green Mode of inheritance for gene: TRAF3IP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAF3IP1 were set to 26487268 Phenotypes for gene: TRAF3IP1 were set to Senior-Loken syndrome 9 616629