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Mendeliome

Gene: CRYGA

Red List (low evidence)

CRYGA (crystallin gamma A)
EnsemblGeneIds (GRCh38): ENSG00000168582
EnsemblGeneIds (GRCh37): ENSG00000168582
OMIM: 123660, Gene2Phenotype
CRYGA is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Reported as potentially disease causing in multiple individuals from two seperate families, but in both cases variant is present in the general population (20 Hets for one variant, >1000 hets and 9 homs in other variant)
Sources: Expert list
Created: 7 Jul 2020, 5:57 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cataract

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Cataract
Tags
refuted
OMIM
123660
Clinvar variants
Variants in CRYGA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cryga has been classified as Red List (Low Evidence).

7 Jul 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CRYGA was added gene: CRYGA was added to Mendeliome. Sources: Expert list refuted tags were added to gene: CRYGA. Mode of inheritance for gene: CRYGA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CRYGA were set to 30450742; 28839118 Phenotypes for gene: CRYGA were set to Cataract Review for gene: CRYGA was set to RED