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  3. TRAF3IP1
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Syndromic Retinopathy

Gene: TRAF3IP1

Green List (high evidence)
TRAF3IP1 (TRAF3 interacting protein 1)
EnsemblGeneIds (GRCh38): ENSG00000204104
EnsemblGeneIds (GRCh37): ENSG00000204104
OMIM: 607380, Gene2Phenotype
TRAF3IP1 is in 6 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

5 unrelated families, zebrafish and mouse models.
Created: 7 Jul 2021, 7:31 a.m. | Last Modified: 7 Jul 2021, 7:31 a.m.
Panel Version: 0.173

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Senior-Loken syndrome 9, MIM# 616629; MONDO:0014712

Publications

Created: 7 Jul 2021, 7:31 a.m.
Last Modified: 7 Jul 2021, 7:31 a.m.
Panel version: 0.173

Bryony Thompson (Royal Melbourne Hospital)

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: 22 May 2020, 6:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Senior-Loken syndrome 9 MIM#616629

Publications

Created: 22 May 2020, 6:33 a.m.

Panel version: 0.31

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Senior-Loken syndrome 9, MIM# 616629
  • MONDO:0014712
OMIM
607380
Clinvar variants
Variants in TRAF3IP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TRAF3IP1 were changed from Senior-Loken syndrome 9 MIM#616629 to Senior-Loken syndrome 9, MIM# 616629; MONDO:0014712

7 Jul 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TRAF3IP1 were set to 26487268

22 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: traf3ip1 has been classified as Green List (High Evidence).

22 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: traf3ip1 has been classified as Green List (High Evidence).

22 May 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: TRAF3IP1 was added gene: TRAF3IP1 was added to Syndromic Retinopathy. Sources: Expert list 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 MIM#616629 Review for gene: TRAF3IP1 was set to GREEN