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  3. EOGT
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Congenital disorders of glycosylation

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

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

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
Created: 1 Feb 2023, 9:14 a.m.
Last Modified: 1 Feb 2023, 9:14 a.m.
Panel version: 3.4

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
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

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

Panel version: 2.14

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
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

1 Feb 2023, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_21_rating was removed from gene: EOGT.

1 Feb 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

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)

8 Feb 2021, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

8 Feb 2021, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: EOGT.

8 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: eogt has been classified as Amber List (Moderate Evidence).

22 Jul 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

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