Limb girdle muscular dystrophy

Gene: CRYAB

Green List (high evidence)

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

4 reviews

Louise Daugherty (Genomics England Curator)

Comment on mode of inheritance: Changed MOI to BOTH due to feedback from Judith Hudson and Chiara Marini Bettolo - We also agree that the mode of inheritance for CRYAB is predominantly monoallelic, though there are rare cases where individuals appear to have two copies of the same pathogenic variant.
Created: 9 Dec 2019, 4:46 p.m. | Last Modified: 9 Dec 2019, 4:46 p.m.
Panel Version: 1.185

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Created: 28 Nov 2019, 5:12 p.m. | Last Modified: 28 Nov 2019, 5:12 p.m.
Panel Version: 1.158

Chiara Marini Bettolo (NUTH)

Green List (high evidence)

currently provided through LGMD panel at HSS LGMD in Ncl. Rare form of myofibrillar myopathy
Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
myofibrillar myopathy

Publications

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

Ana Topf (John Walton Muscular Dystrophy Research Centre)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cataract 16, multiple types, 613763

Publications

History Filter Activity

9 Dec 2019, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: CRYAB was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

28 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: cryab has been classified as Green List (High Evidence).

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CRYAB.

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to CRYAB.

13 May 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CRYAB were changed from Cataract 16, multiple types, 613763 to Cataract 16, multiple types, 613763; myofibrillar myopathy

17 Apr 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene CRYAB was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Cataract 16, multiple types, 613763 for gene: CRYAB Publications for gene CRYAB were changed from to 11577372

17 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: CRYAB was added gene: CRYAB was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: CRYAB was set to