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Research panel - Severe Paediatric Disorders

Gene: CRYAB

Green List (high evidence)
CRYAB (crystallin alpha B)
EnsemblGeneIds (GRCh38): ENSG00000109846
EnsemblGeneIds (GRCh37): ENSG00000109846
OMIM: 123590, Gene2Phenotype
CRYAB is in 13 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: CRYAB; Recommended initial gene rating: Green List (high evidence); Phenotypes: Cardiomyopathy, dilated, 1II, 615184 (3) | Cataract 16, multiple types, 613763 (3) | Myopathy, myofibrillar, 2, 608810 (3) | Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, 613869 (3); Mode of inheritance: Autosomal dominant | Autosomal recessive, Autosomal dominant | Autosomal dominant | Autosomal recessive
Created: 20 Feb 2020, 5:17 p.m. | Last Modified: 20 Feb 2020, 5:17 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:17 p.m.
Last Modified: 20 Feb 2020, 5:17 p.m.
Panel version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Cataract 16, multiple types, 613763
  • Myopathy, myofibrillar, 2, 608810
  • Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, 613869
  • Cardiomyopathy, dilated, 1II, 615184
OMIM
123590
Clinvar variants
Variants in CRYAB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene CRYAB were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Cataract 16, multiple types, 613763; Myopathy, myofibrillar, 2, 608810; Cardiomyopathy, dilated, 1II, 615184; Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, 613869 for gene: CRYAB

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Cataract 16, multiple types, 613763; Myopathy, myofibrillar, 2, 608810; Cardiomyopathy, dilated, 1II, 615184; Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, 613869 for gene: CRYAB

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Cataract 16, multiple types, 613763; Myopathy, myofibrillar, 2, 608810; Cardiomyopathy, dilated, 1II, 615184; Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, 613869 for gene: CRYAB

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, 613869; Myopathy, myofibrillar, 2, 608810; Cardiomyopathy, dilated, 1II, 615184; Cataract 16, multiple types, 613763 for gene: CRYAB

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to CRYAB.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to CRYAB. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, 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 Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: CRYAB was set to