Cerebral vascular malformations
Gene: TRAIP

TRAIP (TRAF interacting protein)
EnsemblGeneIds (GRCh38): ENSG00000183763
EnsemblGeneIds (GRCh37): ENSG00000183763
OMIM: 605958, Gene2Phenotype
TRAIP is in 5 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

Created: 14 Dec 2016, 5:30 p.m.

Panel version: 0.61

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Yorkshire and North East GLH
NHS GMS
Expert Review Red
Literature

Phenotypes

Seckel syndrome 9, OMIM:616777

OMIM

605958

Clinvar variants

Variants in TRAIP

Penetrance

Complete

Publications

26595769

Panels with this gene

History Filter Activity

24 Apr 2024, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: TRAIP were changed from Seckel syndrome 9 616777 to Seckel syndrome 9, OMIM:616777

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