Distal myopathies

Gene: CRYAB

Green List (high evidence)

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

1 review

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: mutations in this gene cause a distal myopathy phenotype
Created: 20 Feb 2017, 12:26 p.m.
Cataract is also part of the phenotype
Created: 31 Jan 2017, 5:13 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myopathy, myofibrillar 2, 608810

Publications

History Filter Activity

22 Feb 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 22nd of February 2017, after revising with the curation team and the expert from UCL Dr Bugiardini.

20 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Feb 2017, Gel status: 4

Set Phenotypes

Arianna Tucci (Genomics England Curator)

Phenotypes for CRYAB were set to Myopathy, myofibrillar 2, 608810

20 Feb 2017, Gel status: 4

Set Mode of Inheritance

Arianna Tucci (Genomics England Curator)

Mode of inheritance for CRYAB was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

20 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 Aug 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CRYAB was added to Distal myopathiespanel. Sources: Eligibility statement prior genetic testing