Intellectual disability update Jan 2018
Gene: GTPBP8

GTPBP8 (GTP binding protein 8 (putative))
EnsemblGeneIds (GRCh38): ENSG00000163607
EnsemblGeneIds (GRCh37): ENSG00000163607
GTPBP8 is in 1 panel

1 review

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Comment on publications: Candidate intellectual disability gene suggested by Grozeva et al, (2015) PMID: 26350204
Created: 1 Mar 2018, 2:13 p.m.

This is a candidate intellectual disability gene from Grozeva et al., (2015) PMID: 26350204, however no evidence to date has been found to support the association between variants of this gene and an observed intellectual disability phenotype.

This gene is also not currently a DD gene in Gene2Phenotype.
Created: 1 Mar 2018, 2:13 p.m.

Created: 1 Mar 2018, 2:13 p.m.

Panel version: 0.230

Details

Sources

Expert Review Red

Clinvar variants

Variants in GTPBP8

Penetrance

None

Publications

26350204

Panels with this gene

Intellectual disability

History Filter Activity

1 Mar 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for GTPBP8 were set to 26350204

18 Dec 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GTPBP8 was added to Intellectual disability update Jan 2018 panel. Sources: Expert Review Red