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Rare multisystem ciliopathy disorders

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: 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
Complete
Publications
Panels with this gene

History Filter Activity

26 Jan 2017, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 by Alice Gardham on 26th January 2017

25 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

25 Jan 2017, Gel status: 4

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for TRAF3IP1 were set to Senior-Loken syndrome 9 616629

25 Jan 2017, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for TRAF3IP1 were set to 26487268

25 Jan 2017, Gel status: 4

Set Mode of Inheritance

Alice Gardham (Genomics England)

Mode of inheritance for TRAF3IP1 was changed to BIALLELIC, autosomal or pseudoautosomal

25 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

25 Nov 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TRAF3IP1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Orphanet

25 Nov 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TRAF3IP1 was created by ellenmcdonagh