CRYAB

crystallin alpha B
OMIM: 123590, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Green CRYAB in Distal myopathies

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.31
Latest signed off version: v1.21 (11 Nov 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Eligibility statement prior genetic testing
    Phenotypes
    • Myopathy, myofibrillar 2, 608810

    Green CRYAB in Neuromuscular disorders


    Version 5.243
    Latest signed off version: v5.43 (4 Mar 2020)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Myopathy, myofibrillar 2, 608810
    • Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related 613869

    Green CRYAB in Cataracts

    Level 3: Anterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.85
    Latest signed off version: v2.76 (5 Aug 2021)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Myopathy, myofibrillar, 2, 608810
    • Posterior Polar Cataract

    Red CRYAB in Hypertrophic cardiomyopathy - teen and adult

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 2.27
    Latest signed off version: v2.11 (15 Oct 2020)

    Component of the following Super Panels:

  • Sudden cardiac death
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • South West GLH
    • London South GLH
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • "Myopathy, myofibrillar, fatal infantile hypertrophy, alpha ‐ B crystallin ‐ related, 613869"

    Amber CRYAB in Dilated Cardiomyopathy and conduction defects

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 1.70

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • South West GLH
    • London South GLH
    • Emory Genetics Laboratory
    • Expert list
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Cardiomyopathy, dilated, 1II,

    Red CRYAB in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.129
    Latest signed off version: v3.2 (13 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    Phenotypes
    • Myopathy, myofibrillar, 2, 608810Cataract 16, multiple types, 613763Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related, 613869Cardiomyopathy, dilated, 1II, 615184
    • Myofibrillar Myopathy, Dominant

    Red CRYAB in Congenital myopathy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.59
    Latest signed off version: v2.2 (2 Mar 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Myopathy, myofibrillar, 2 608810
    • Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related 613869

    Green CRYAB in Limb girdle muscular dystrophy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.29
    Latest signed off version: v2.4 (2 Mar 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Yorkshire and North East GLH
    • Expert Review
    Phenotypes
    • Cataract 16, multiple types, 613763
    • myofibrillar myopathy

    Amber CRYAB in Dilated cardiomyopathy - adult and teen

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 1.25
    Latest signed off version: v1.6 (15 Oct 2020)

    Component of the following Super Panels:

  • Sudden cardiac death
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • NHS GMS

    Red CRYAB in DDG2P


    Version 2.49
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED 613869
    • CATARACT POSTERIOR POLAR TYPE 2 613763

    Red CRYAB in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.416

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    Phenotypes
    • Cardiomyopathy

    Red CRYAB in Structural eye disease


    Version 1.83
    Latest signed off version: v1.3 (4 Mar 2020)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    Phenotypes
    • CATARACT 16, MULTIPLE TYPES, 613763

    Amber CRYAB in Cardiomyopathies - including childhood onset


    Version 1.57
    Latest signed off version: v1.4 (19 Feb 2020)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • South West GLH
    • Expert Review Amber
    Phenotypes
    • Myopathy, myofibrillar, fatal infantile hypertrophy, alpha B crystallin related, 613869
    • Cardiomyopathy, dilated, 1II,

    Red CRYAB in Hereditary neuropathy NOT PMP22 copy number


    Version 1.63
    Latest signed off version: v1.36 (5 Aug 2021)

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    • NHS GMS
    • South West GLH
    Phenotypes
    • Cardiomyopathy

    Green CRYAB in Severe Paediatric Disorders


    Version 1.84

    review 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