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  2. Congenital Disorders of Glycosylation
  3. OGT
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Congenital Disorders of Glycosylation

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 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

OGT encodes O-GlcNAc transferase subunit p110. More than 5 unrelated families reported, presenting with ID, hypotonia, eye abnormalities, hearing impairment, behavioural problems, short stature, dysmorphism. Functional data supports gene-disease association.
Sources: Expert Review
Created: 26 Nov 2020, 2:30 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Mental retardation, X-linked 106, MIM# 300997

Publications

Created: 26 Nov 2020, 2:30 a.m.

Panel version: 0.211

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Mental retardation, X-linked 106, MIM# 300997
OMIM
300255
Clinvar variants
Variants in OGT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ogt has been classified as Green List (High Evidence).

26 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ogt has been classified as Green List (High Evidence).

26 Nov 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: OGT was added gene: OGT was added to Congenital Disorders of Glycosylation. Sources: Expert Review Mode of inheritance for gene: OGT was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: OGT were set to 28302723; 28584052; 31296563; 31627256; 29769320; 29606577 Phenotypes for gene: OGT were set to Mental retardation, X-linked 106, MIM# 300997 Review for gene: OGT was set to GREEN