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Severe Paediatric Disorders

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 2 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: OGT; Recommended initial gene rating: Green List (high evidence); Phenotypes: Mental retardation, X-linked 106, 300997 (3); Mode of inheritance: X-linked recessive
Created: 20 Feb 2020, 5:23 p.m. | Last Modified: 20 Feb 2020, 5:23 p.m.
Panel Version: 0.12

Details

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

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene OGT were updated from to 30847515

20 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene OGT was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Mental retardation, X-linked 106, 300997 for gene: OGT

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Mental retardation, X-linked 106, 300997 for gene: OGT

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Mental retardation, X-linked 106, 300997 for gene: OGT

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Mental retardation, X-linked 106, 300997 for gene: OGT

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to OGT.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to OGT. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: OGT was added gene: OGT was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: OGT was set to