Bilateral congenital or childhood onset cataracts
Gene: AGKEnsemblGeneIds (GRCh38): ENSG00000006530
EnsemblGeneIds (GRCh37): ENSG00000006530
OMIM: 610345, Gene2Phenotype
AGK is in 14 panels
2 reviews
Sarah Waller (Manchester Centre for Genomic Medicine)
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)
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
-
- Mitochondrial disorders
- Paediatric or syndromic cardiomyopathy
- Nephrocalcinosis or nephrolithiasis
- Peroxisomal disorders
- Mitochondrial DNA maintenance disorder
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Possible mitochondrial disorder - nuclear genes
- Undiagnosed metabolic disorders
- Fetal anomalies
- DDG2P
- Structural eye disease
History Filter Activity
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
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()AGK was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()AGK was added to Cataractspanel. Sources: UKGTN
Added New Source
GEL ()AGK was added to Cataractspanel. Sources: Illumina TruGenome Clinical Sequencing Services