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Fetal anomalies

Gene: CRYGD

Green List (high evidence)

CRYGD (crystallin gamma D)
EnsemblGeneIds (GRCh38): ENSG00000118231
EnsemblGeneIds (GRCh37): ENSG00000118231
OMIM: 123690, Gene2Phenotype
CRYGD is in 6 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Congenital cataracts.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for CATARACT CONGENITAL CERULEAN TYPE 3 and Confirmed for CATARACT AUTOSOMAL DOMINANT.
Created: 11 Dec 2018, 9:04 a.m.
In the original PAGE file, MOP listed as Uncertain for both disorders.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CATARACT AUTOSOMAL DOMINANT
  • CATARACT CONGENITAL CERULEAN TYPE 3
OMIM
123690
Clinvar variants
Variants in CRYGD
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes CATARACT AUTOSOMAL DOMINANT for gene: CRYGD

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: CRYGD was added gene: CRYGD was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CRYGD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CRYGD were set to CATARACT CONGENITAL CERULEAN TYPE 3