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Hereditary neuropathy NOT PMP22 copy number

Gene: CRYAB

Red List (low evidence)

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

5 reviews

Alexander Rossor (UCL Institute of Neurology)

should be on myopathy panel
Created: 9 May 2019, 12:14 p.m.

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 29 Apr 2019, 12:53 p.m.

Natalie Forrester (SWGLH - Bristol Genetics)

Red List (low evidence)

Unable to find any evidence of clear neuropathy association - only with myopathy/muscular dystrophy
Created: 29 Apr 2019, 12:30 p.m.

Phenotypes
Cardiomyopathy

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Red List (low evidence)

Mary Reilly (Institute of Neurology)

Not a CMT gene
Created: 8 Dec 2015, 3:05 p.m.

History Filter Activity

5 Dec 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: CRYAB was added gene: CRYAB was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: CRYAB was set to Phenotypes for gene: CRYAB were set to Cardiomyopathy