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Fetal anomalies

Gene: AGK

Green List (high evidence)

AGK (acylglycerol kinase)
EnsemblGeneIds (GRCh38): ENSG00000006530
EnsemblGeneIds (GRCh37): ENSG00000006530
OMIM: 610345, Gene2Phenotype
AGK is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Severe perinatal disorder, including HCM.
Created: 23 Nov 2019, 2:57 a.m. | Last Modified: 28 Oct 2021, 8:50 p.m.
Panel Version: 0.63

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sengers syndrome, MIM#212350

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Sengers syndrome, MIM#212350
OMIM
610345
Clinvar variants
Variants in AGK
Penetrance
None
Panels with this gene

History Filter Activity

28 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

28 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AGK were changed from SENGERS SYNDROME to Sengers syndrome, MIM#212350

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AGK was added gene: AGK was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: AGK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGK were set to SENGERS SYNDROME