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Intellectual disability

Gene: OGT

Green List (high evidence)
OGT (O-linked N-acetylglucosamine (GlcNAc) transferase)
EnsemblGeneIds (GRCh38): ENSG00000147162
EnsemblGeneIds (GRCh37): ENSG00000147162
OMIM: 300255, Gene2Phenotype
OGT is in 3 panels

3 reviews

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Red to Green based on two 2017 papers (a family reported in PMID:28302723, and two unrelated boys in PMID:28584052) supporting causation for MIM:300997.
Created: 4 Sep 2017, 3:02 p.m.
A L254F substitution in OGT was reported by Niranjan et al. 2015 (PMID:25679214) in members of a family with X-linked intellectual disability (XLID). The same variant was reported in 3 affected males from a family by Vaidyanathan et al. (PMID:28302723, 2017).
Created: 4 Sep 2017, 2:58 p.m.
Willems et al, 2017 (PMID:28584052) report two hemizygous mutations in OGT in individuals with X-linked intellectual disability (XLID) and dysmorphic features: R284P and a splicing variant c.463-6T-G, NM_181672.2. Both variants residue in the region of OGT essential for substrate recognition.
Created: 17 Aug 2017, 1:05 p.m.
Created: 17 Aug 2017, 1:05 p.m.

Panel version: 1.376

Lu Raymond (university of cambridge )

Red List (low evidence)

Created: 23 Feb 2016, 11:20 a.m.

Panel version: 0.306

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Mental retardation, X-linked 106, 300997
OMIM
300255
Clinvar variants
Variants in OGT
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 3

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

4 Sep 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

17 Aug 2017, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for OGT were set to Mental retardation, X-linked 106, 300997

17 Aug 2017, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for OGT were set to 25679214; 28302723; 28584052

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

OGT was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

OGT was created by ellenmcdonagh