Genes in panel
Regions in panel
Prev Next

Intellectual disability

Gene: TRAIP

Green List (high evidence)

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

1 review

Catherine Snow (Genomics England)

Green List (high evidence)

Following advice from Genomics England Clinical Team TRAIP will be classified as Green. Advice was "In view of >3 cases with global delay spanning the moderate range, I would include it as green on the ID panel. The birth weight is in the lower end of the normal range, however I agree that short stature, and microcephaly in particular are striking features in mid -childhood. It is possible that GDD might present before the stature is clearly abnormal. Therefore I would include it. Knowledge of stature / head size can be used by clinical teams to assist with variant interpretation where relevant."
Created: 24 Jun 2019, 9:16 a.m. | Last Modified: 24 Jun 2019, 9:16 a.m.
Panel Version: 0.188
Comment on list classification: Comment on list classification: Made Amber awaiting advice from the clinical team. Gene was identified in literature PMID:30914295 as missing in PanelApp compared to other curated gene list for ID genes.

There are sufficient cases (>3) (PMID:26595769) from unrelated individuals However the main phenotype of TRAIP is dwarfism and so therefore unsure if the DD phenotype is relevant for this gene to be included in the ID panel.
Created: 19 Jun 2019, 4:51 p.m.
Comment on list classification: Gene identified in literature PMID:30914295 as missing in PanelApp compared to other curated gene list for ID genes.

TRAIP is in OMIM, with an associated phenotype of Seckel syndrome 9, 616777. Also in Gene2Phenotype and defined as TRAIP Disease: PRIMORDIAL DWARFISM.

Harely et al (PMID:26595769) provides a clinical summary of 3 unrelated individuals with TRAIP mutations and phenotypes relevant to this gene panel of mild-moderate developmental delay which was present in all individuals (Supplementary Note & Table). Two variants were identified, c.553C>T, p.Arg185* in two unrelated individuals and c.52C>T, p.Arg18Cys, all individuals showed very similar phenotypes.
Created: 4 Jun 2019, 3:24 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
  • Literature
Phenotypes
  • Seckel syndrome 9, 616777
OMIM
605958
Clinvar variants
Variants in TRAIP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Jul 2019, Gel status: 3

Set mode of inheritance

Catherine Snow (Genomics England)

Mode of inheritance for gene TRAIP was changed from to BIALLELIC, autosomal or pseudoautosomal

25 Jul 2019, Gel status: 3

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

Catherine Snow (Genomics England)

gene: TRAIP was added gene: TRAIP was added to Intellectual disability. Sources: Expert Review Green,Literature Mode of inheritance for gene: TRAIP was set to Publications for gene: TRAIP were set to 26595769; 30914295 Phenotypes for gene: TRAIP were set to Seckel syndrome 9, 616777