Genes in panel

Inborn errors of metabolism

Gene: EOGT

Amber List (moderate evidence)

EOGT (EGF domain specific O-linked N-acetylglucosamine transferase)
EnsemblGeneIds (GRCh38): ENSG00000163378
EnsemblGeneIds (GRCh37): ENSG00000163378
OMIM: 614789, Gene2Phenotype
EOGT is in 9 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Adams-Oliver syndrome 4 OMIM:615297
  • Adams-Oliver syndrome 4 MONDO:0014124
Tags
Q2_21_rating
OMIM
614789
Clinvar variants
Variants in EOGT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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