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Cataract

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

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 25208612 - Congenital cataracts is a feature of Sengers syndrome

PMID: 22415731 - 1 family with a homozygous splice variant (c.424-3C>G) and isolated cataracts. RT-PCR of patient fibroblasts showed complete skipping of exon 8 with resulting frameshift and predicted premature truncation (r.424_518del, p.Ala142Thrfs*4)
Nonsyndromic cataracts in the absence of additional features is rare
Created: 30 Mar 2022, 12:11 a.m. | Last Modified: 30 Mar 2022, 12:11 a.m.
Panel Version: 0.319

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sengers syndrome, MIM#212350; Cataract 38 MIM#614691

Publications

Created: 30 Mar 2022, 12:11 a.m.
Last Modified: 30 Mar 2022, 12:11 a.m.
Panel version: 0.319

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Sengers syndrome, MIM#212350
  • Cataract 38 MIM#614691
OMIM
610345
Clinvar variants
Variants in AGK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Mar 2022, Gel status: 3

Set publications

Elena Savva (Victorian Clinical Genetics Services)

Publications for gene: AGK were set to 22415731; 25208612

30 Mar 2022, Gel status: 3

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: AGK were changed from Sengers syndrome, MIM#212350; Cataract 38 MIM#614691 to Sengers syndrome, MIM#212350; Cataract 38 MIM#614691

30 Mar 2022, Gel status: 3

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: AGK were changed from Sengers syndrome, MIM#212350; Cataract 38 MIM#614691 to Sengers syndrome, MIM#212350; Cataract 38 MIM#614691

30 Mar 2022, Gel status: 3

Set mode of inheritance

Elena Savva (Victorian Clinical Genetics Services)

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

30 Mar 2022, Gel status: 3

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: AGK were changed from to Sengers syndrome, MIM#212350; Cataract 38 MIM#614691

30 Mar 2022, Gel status: 3

Set publications

Elena Savva (Victorian Clinical Genetics Services)

Publications for gene: AGK were set to

30 Mar 2022, Gel status: 3

Set mode of inheritance

Elena Savva (Victorian Clinical Genetics Services)

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

30 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AGK was added gene: AGK was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: AGK was set to Unknown