1. Panels
  2. Renal Ciliopathies and Nephronophthisis
  3. TRAF3IP1
STRs in panel
Prev Next
Regions in panel
Prev Next

Renal Ciliopathies and Nephronophthisis

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

5 unrelated families, zebrafish and mouse models.
Created: 7 Jul 2021, 7:29 a.m. | Last Modified: 7 Jul 2021, 7:29 a.m.
Panel Version: 0.187

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 7 Jul 2021, 7:29 a.m.
Last Modified: 7 Jul 2021, 7:29 a.m.
Panel version: 0.187

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
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

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

7 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TRAF3IP1 were changed from 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

7 Jul 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TRAF3IP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TRAF3IP1 was added gene: TRAF3IP1 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0 Mode of inheritance for gene: TRAF3IP1 was set to Unknown