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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 9 panels

1 review

Dean Phelan (Victorian Clinical Genetics Services)

Green List (high evidence)

EOGT - Adams-Oliver syndrome 4 (AR) - a rare developmental disorder, characterized by scalp aplasia cutis congenita (ACC) and transverse terminal limb defects (TTLD)

Function - Extracellular O-GlcNAc is a unique modification restricted to the epidermal growth factor (EGF) domain-containing glycoproteins. This O-GlcNAcylation is catalyzed by the EGF-domain specific O-GlcNAc transferase (EOGT) - Notch signaling pathway

PMID: 23522784 - initial report, one family with recessive Adams-Oliver syndrome
PMID: 31368252 - two families with recessive Adams-Oliver syndrome
PMID: 29924900 - Adams-Oliver cohort study suggesting EOGT represents 3% (four independent families) of causality in cohort

Summary - at least six families with AR Adams-Oliver syndrome
Created: 22 Jul 2020, 3:15 a.m. | Last Modified: 22 Jul 2020, 3:15 a.m.
Panel Version: 0.96

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
scalp aplasia cutis congenita; transverse terminal limb defects

Publications

Created: 22 Jul 2020, 3:15 a.m.
Last Modified: 22 Jul 2020, 3:15 a.m.
Panel version: 0.96

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Adams-Oliver syndrome 4 (MIM #615297)
  • scalp aplasia cutis congenita
  • transverse terminal limb defects
OMIM
614789
Clinvar variants
Variants in EOGT
Penetrance
None
Panels with this gene

History Filter Activity

22 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: eogt has been classified as Green List (High Evidence).

22 Jul 2020, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: EOGT were changed from Adams-Oliver syndrome 4, #615297; scalp aplasia cutis congenita; transverse terminal limb defects to Adams-Oliver syndrome 4 (MIM #615297); scalp aplasia cutis congenita; transverse terminal limb defects

22 Jul 2020, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: EOGT were changed from to Adams-Oliver syndrome 4, #615297; scalp aplasia cutis congenita; transverse terminal limb defects

22 Jul 2020, Gel status: 3

Set mode of inheritance

Seb Lunke (Victorian Clinical Genetics Services)

Mode of inheritance for gene: EOGT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EOGT was added gene: EOGT was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: EOGT was set to Unknown