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Fetal anomalies

Gene: CRYAA

Green List (high evidence)

CRYAA (crystallin alpha A)
EnsemblGeneIds (GRCh38): ENSG00000160202
EnsemblGeneIds (GRCh37): ENSG00000160202
OMIM: 123580, Gene2Phenotype
CRYAA is in 6 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Comment on mode of inheritance: In original PAGE file, the Mode of inheritance was listed as Biallelic for 'CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1' and Monoallelic for 'CATARACT, NUCLEAR'. Clinical review confirmed that CRYAA should be on the panel with both biallelic and monoallelic modes of inheritance.
Created: 24 Mar 2019, 8:21 p.m.
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: Include on the panel with both AD and AR modes of inheritance.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1 and Confirmed for CATARACT, NUCLEAR.
Created: 11 Dec 2018, 9:04 a.m.
In the original PAGE file, MOP listed as LOF for CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1, and listed as All missense/in frame for CATARACT, NUCLEAR.
Created: 8 Nov 2018, 4:45 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1
  • CATARACT, NUCLEAR
OMIM
123580
Clinvar variants
Variants in CRYAA
Penetrance
None
Panels with this gene

History Filter Activity

24 Mar 2019, Gel status: 4

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: CRYAA was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes CATARACT, NUCLEAR for gene: CRYAA

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: CRYAA was added gene: CRYAA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CRYAA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CRYAA were set to CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1