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  3. TRAF3IP1
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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 7 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

Phenotypes
Senior-Loken syndrome 9 616629

Publications

Created: 25 Jan 2017, 9:48 a.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version 0.437

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Orphanet
Phenotypes
  • Senior-Loken syndrome 9 616629
OMIM
607380
Clinvar variants
Variants in TRAF3IP1
Penetrance
None
Publications
Panels with this gene

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