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Fetal anomalies

Gene: CRYGC

Green List (high evidence)

CRYGC (crystallin gamma C)
EnsemblGeneIds (GRCh38): ENSG00000163254
EnsemblGeneIds (GRCh37): ENSG00000163254
OMIM: 123680, Gene2Phenotype
CRYGC is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mutations in the CRYGC gene have been found to cause several types of cataract, which have been described as Coppock-like; embryonic, fetal, infantile nuclear; zonular pulverulent; and lamellar. Some patients also exhibit microcornea.

Multiple families reported.
Created: 25 Nov 2021, 7:05 a.m. | Last Modified: 25 Nov 2021, 7:05 a.m.
Panel Version: 0.709

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cataract 2, multiple types, MIM# 604307

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Cataract 2, multiple types, MIM# 604307
OMIM
123680
Clinvar variants
Variants in CRYGC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

25 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CRYGC were changed from CATARACT AUTOSOMAL DOMINANT to Cataract 2, multiple types, MIM# 604307

25 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CRYGC were set to

25 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CRYGC was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CRYGC was added gene: CRYGC was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: CRYGC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CRYGC were set to CATARACT AUTOSOMAL DOMINANT