Congenital disorders of glycosylation
Gene: EOGT
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 9:14 a.m. | Last Modified: 1 Feb 2023, 9:14 a.m.
Panel Version: 3.4
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
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 listCreated: 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
Tag Q2_21_rating was removed from gene: EOGT.
Source Expert Review Green was added to EOGT. Source NHS GMS was added to EOGT. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: EOGT were changed from Adams-Oliver syndrome 4, MIM# 615297 to Adams-Oliver syndrome 4 OMIM:615297; Adams-Oliver syndrome 4 MONDO:0014124
Tag Q2_21_rating tag was added to gene: EOGT.
Gene: eogt has been classified as Amber List (Moderate Evidence).
gene: EOGT was added gene: EOGT was added to Congenital disorders of glycosylation. Sources: Expert list 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, MIM# 615297 Review for gene: EOGT was set to GREEN gene: EOGT was marked as current diagnostic