1. Panels
  2. Bilateral congenital or childhood onset cataracts
  3. CRYGC
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Bilateral congenital or childhood onset cataracts

Gene: CRYGC

Green List (high evidence)
CRYGC (crystallin gamma C)
EnsemblGeneIds (GRCh38): ENSG00000163254
EnsemblGeneIds (GRCh37): ENSG00000163254
OMIM: 123680, Gene2Phenotype
CRYGC is in 5 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Cataract 2, multiple types, 604307

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

Created: 14 Jun 2016, 8:27 a.m.

Panel version: 0.383

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Is on the Manchester congenital cataracts gene panel. It is a confirmed DD gene for cataract autosomal dominant, and a possible DD gene for cataract coppock-like. Associated with Cataract 2, multiple types in OMIM, and multiple variants reported.
Created: 25 Apr 2016, 9:11 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
cataract autosomal dominant; cataract coppock-like; Cataract 2, multiple types

Created: 25 Apr 2016, 9:10 a.m.

Panel version: 0.0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cataract 2, multiple types, 604307
  • cataract autosomal dominant
  • cataract coppock-like
  • Cataract 2, multiple types
OMIM
123680
Clinvar variants
Variants in CRYGC
Penetrance
Complete
Panels with this gene

History Filter Activity

14 Jun 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for CRYGC were set to Cataract 2, multiple types, 604307; cataract autosomal dominant; cataract coppock-like; Cataract 2, multiple types

31 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for CRYGC was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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: 2

Added New Source

GEL ()

CRYGC was added to Cataractspanel. Sources: UKGTN

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

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