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Prepair 1000+

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

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

Adams-Oliver syndrome (AOS) is a rare congenital disease characterised by aplasia cutis congenita (ACC) and terminal transverse limb defects (TTLD) (PMID: 31368252).

Variable phenotype (OMIM).
Created: 8 Jan 2025, 11:23 p.m. | Last Modified: 8 Jan 2025, 11:23 p.m.
Panel Version: 1.992

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Adams-Oliver syndrome 4 MIM#615297

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Adams-Oliver syndrome 4, MIM#615297
OMIM
614789
Clinvar variants
Variants in EOGT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

16 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EOGT were changed from Adams-Oliver syndrome 4, 615297 (3) to Adams-Oliver syndrome 4, MIM#615297

16 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: EOGT were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EOGT was added gene: EOGT was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: EOGT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EOGT were set to Adams-Oliver syndrome 4, 615297 (3)