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Cataracts

Gene: CRYAA

Green List (high evidence)

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

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital Cataract; Cataract 9, multiple types, 604219

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

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

On the Manchester congenital cataracts gene panel, and is a confirmed DD gene for congenotal autosomal recessive cataracts and nuclear cataracts.
Created: 22 Apr 2016, 4:54 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1; CATARACT, NUCLEAR

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Congenital Cataract
  • Cataract 9, multiple types, 604219
  • CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1
  • CATARACT, NUCLEAR
OMIM
123580
Clinvar variants
Variants in CRYAA
Penetrance
Complete
Panels with this gene

History Filter Activity

14 Jun 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).

14 Jun 2016, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for CRYAA were set to Congenital Cataract; Cataract 9, multiple types, 604219; CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1; CATARACT, NUCLEAR

31 May 2016, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

CRYAA was added to Cataractspanel. Sources: UKGTN

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

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

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

CRYAA was added to Cataractspanel. Sources: Illumina TruGenome Clinical Sequencing Services