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  2. Likely inborn error of metabolism
  3. EOGT
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Likely inborn error of metabolism

Gene: EOGT

Green List (high evidence)
EOGT (EGF domain specific O-linked N-acetylglucosamine transferase)
EnsemblGeneIds (GRCh38): ENSG00000163378
EnsemblGeneIds (GRCh37): ENSG00000163378
OMIM: 614789, Gene2Phenotype
EOGT is in 8 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Created: 14 Mar 2022, 2:05 p.m. | Last Modified: 14 Mar 2022, 2:05 p.m.
Panel Version: 2.229
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least five variants reported in five unrelated cases.
Created: 8 Feb 2021, 1:22 p.m. | Last Modified: 8 Feb 2021, 1:22 p.m.
Panel Version: 2.36
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 8 Feb 2021, 1:21 p.m. | Last Modified: 8 Feb 2021, 1:21 p.m.
Panel Version: 2.36
Created: 8 Feb 2021, 1:21 p.m.
Last Modified: 8 Feb 2021, 1:21 p.m.
Copied from panel: Congenital disorders of glycosylation v2.74

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Multiple families reported. EOGT is an O-linked-N-acetylglucosamine (O-GlcNAc) transferase, with modification restricted to the epidermal growth factor (EGF) domain-containing glycoproteins.
Sources: Expert list
Created: 22 Jul 2020, 8:09 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Adams-Oliver syndrome 4, MIM# 615297

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 22 Jul 2020, 8:09 a.m.

Copied from panel: Congenital disorders of glycosylation v2.74

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Adams-Oliver syndrome 4 OMIM:615297
  • Adams-Oliver syndrome 4 MONDO:0014124
OMIM
614789
Clinvar variants
Variants in EOGT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Mar 2022, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating was removed from gene: EOGT.

14 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to EOGT. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

5 Aug 2021, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: EOGT was added gene: EOGT was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list Q2_21_rating tags were added to gene: EOGT. Mode of inheritance for gene: EOGT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EOGT were set to 23522784; 31368252; 29924900 Phenotypes for gene: EOGT were set to Adams-Oliver syndrome 4 OMIM:615297; Adams-Oliver syndrome 4 MONDO:0014124