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  2. Bilateral congenital or childhood onset cataracts
  3. CRYBA1
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Bilateral congenital or childhood onset cataracts

Gene: CRYBA1

Green List (high evidence)
CRYBA1 (crystallin beta A1)
EnsemblGeneIds (GRCh38): ENSG00000108255
EnsemblGeneIds (GRCh37): ENSG00000108255
OMIM: 123610, Gene2Phenotype
CRYBA1 is in 5 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
Cataract 10, multiple types, 600881

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

Created: 14 Jun 2016, 8:27 a.m.

Panel version: 0.383

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Is on the Manchester congenital cataracts gene panel. It is a confirmed DD gene for cataract congenital zonular with sutural opacities. Associated with Cataract 10, multiple types in OMIM.
Created: 25 Apr 2016, 9:01 a.m.

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

Phenotypes
cataract congenital zonular with sutural opacities; Cataract 10, multiple types

Created: 25 Apr 2016, 9:01 a.m.

Panel version: 0.0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cataract 10, multiple types, 600881
  • cataract congenital zonular with sutural opacities
  • Cataract 10, multiple types
OMIM
123610
Clinvar variants
Variants in CRYBA1
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: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for CRYBA1 were set to Cataract 10, multiple types, 600881; cataract congenital zonular with sutural opacities; Cataract 10, multiple types

31 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for CRYBA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 May 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).

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

CRYBA1 was added to Cataractspanel. Sources: UKGTN

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

CRYBA1 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen