Cerebral vascular malformations

Gene: TRAIP

Red List (low evidence)

TRAIP (TRAF interacting protein)
EnsemblGeneIds (GRCh38): ENSG00000183763
EnsemblGeneIds (GRCh37): ENSG00000183763
OMIM: 605958, Gene2Phenotype
TRAIP is in 6 panels

1 review

Alice Gardham (Genomics England)

I don't know

Comment when marking as ready: Mutations only identified in two families with Seckel syndrome
Created: 15 Dec 2016, 9:12 a.m.
Seckel syndrome is associated with intracerebral aneurysms and moyamoya
Created: 14 Dec 2016, 5:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Seckel syndrome 9 616777

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Seckel syndrome 9 616777
OMIM
605958
Clinvar variants
Variants in TRAIP
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to TRAIP.

29 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to TRAIP.

19 Dec 2016, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on the 19th December 2016

15 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

15 Dec 2016, Gel status: 0

Set publications

Alice Gardham (Genomics England)

Publications for TRAIP were set to 26595769

14 Dec 2016, Gel status: 0

Added New Source

Alice Gardham (Genomics England)

TRAIP was added to Cerebrovascular disorderspanel. Sources: Literature

14 Dec 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

TRAIP was created by agardham