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Cataracts

Gene: CRYAB

Green List (high evidence)

CRYAB (crystallin alpha B)
EnsemblGeneIds (GRCh38): ENSG00000109846
EnsemblGeneIds (GRCh37): ENSG00000109846
OMIM: 123590, Gene2Phenotype
CRYAB is in 15 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Myopathy, myofibrillar, 2, 608810; Posterior Polar Cataract

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

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Comment on mode of inheritance: Kept as both due to information on OMIM, for juvenile cataracts.
Created: 14 Jun 2016, 12:19 p.m.
Is on the Manchester congenital cataracts gene panel. Is a possible DD gene for CATARACT POSTERIOR POLAR TYPE 2, and in OMIM is associated with Cataract 16, multiple types, with examples of multiple cases.
Created: 22 Apr 2016, 5:01 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy, myofibrillar, 2, 608810
  • Posterior Polar Cataract
OMIM
123590
Clinvar variants
Variants in CRYAB
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 Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

31 May 2016, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

CRYAB was added to Cataractspanel. Sources: UKGTN

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

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

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

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