Bilateral congenital or childhood onset cataracts
Gene: CRYGDEnsemblGeneIds (GRCh38): ENSG00000118231
EnsemblGeneIds (GRCh37): ENSG00000118231
OMIM: 123690, Gene2Phenotype
CRYGD is in 5 panels
2 reviews
Sarah Waller (Manchester Centre for Genomic Medicine)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cataracts; Cataract 4, multiple types, 115700
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
On the Manchester congenital cataracts gene panel. It is a confirmed DD gene for CATARACT CONGENITAL CERULEAN TYPE 3 and CATARACT AUTOSOMAL DOMINANT. It is a possible DD gene for CATARACT CRYSTALLINE ACULEIFORM and CATARACT CONGENITAL NON-NUCLEAR POLYMORPHIC AUTOSOMAL DOMINANT. Associated with Cataract 4, multiple types in OMIM (monogenic).
Created: 22 Apr 2016, 5:07 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CATARACT CONGENITAL CERULEAN TYPE 3; CATARACT AUTOSOMAL DOMINANT
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Cataracts
- Cataract 4, multiple types, 115700
- CATARACT CONGENITAL CERULEAN TYPE 3
- CATARACT AUTOSOMAL DOMINANT
- OMIM
- 123690
- Clinvar variants
- Variants in CRYGD
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for CRYGD were set to Cataracts; Cataract 4, multiple types, 115700; CATARACT CONGENITAL CERULEAN TYPE 3; CATARACT AUTOSOMAL DOMINANT
Added New Source
GEL ()CRYGD was added to Cataractspanel. Sources: UKGTN
Added New Source
GEL ()CRYGD was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()CRYGD was added to Cataractspanel. Sources: Illumina TruGenome Clinical Sequencing Services