Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability syndromic and non-syndromic

Gene: EOGT

Red List (low 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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Neurological features not so well described with this particular subtype of AOS.
Created: 1 Dec 2019, 9:56 a.m. | Last Modified: 1 Dec 2019, 9:56 a.m.
Panel Version: 0.159

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 Red
  • Genetic Health Queensland
Phenotypes
  • Adams-Oliver syndrome 4, MIM#615297
OMIM
614789
Clinvar variants
Variants in EOGT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: eogt has been classified as Red List (Low Evidence).

1 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Dec 2019, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: EOGT were set to

1 Dec 2019, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: eogt has been classified as Red List (Low Evidence).

22 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 Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: EOGT was set to Unknown