Cataracts

Gene: AGK

Green List (high evidence)

AGK (acylglycerol kinase)
EnsemblGeneIds (GRCh38): ENSG00000006530
EnsemblGeneIds (GRCh37): ENSG00000006530
OMIM: 610345, Gene2Phenotype
AGK is in 14 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital Cataract; Sengers syndrome, 212350

Publications

  • Aldahmesh et al (2012) Hum. Mutat. 33: 960-962
  • Mayr et al (2012) Am. J. Hum. Genet. 90: 314-320

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

On the Manchester Congenital cataracts panel. It associated with Cataract 38, autosomal recessive and Sengers syndrome in OMIM.
Created: 22 Apr 2016, 4:47 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Congenital Cataract
  • Sengers syndrome, 212350
OMIM
610345
Clinvar variants
Variants in AGK
Penetrance
Complete
Publications
  • Aldahmesh et al (2012) Hum. Mutat. 33: 960-962
  • Mayr et al (2012) Am. J. Hum. Genet. 90: 314-320
Panels with this gene

History Filter Activity

14 Jun 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for AGK were set to Aldahmesh et al (2012) Hum. Mutat. 33: 960-962; Mayr et al (2012) Am. J. Hum. Genet. 90: 314-320

13 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

AGK was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

AGK was added to Cataractspanel. Sources: UKGTN

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

AGK was added to Cataractspanel. Sources: Illumina TruGenome Clinical Sequencing Services