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  1. Genes and Genomic Entities
  2. CRYAB

CRYAB

crystallin alpha B
OMIM: 123590, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green CRYAB in Cataract


Level 2: Ophthalmological disorders
Version 0.375

1 review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Red CRYAB in Dilated Cardiomyopathy


Level 2: Cardiovascular disorders
Version 1.48

Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Cardiomyopathy_Adult_SuperPanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cardiomyopathy, dilated, 1II, MIM#615184

    Green CRYAB in Mendeliome


    Version 1.3512

    		1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cataract 16, multiple types MIM#613763 AD, AR
    • Myopathy, myofibrillar, 2 MIM#608810 AD
    • Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related MIM#613869 AR

    Amber CRYAB in Limb-Girdle Muscular Dystrophy and Distal Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  4 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review Amber
    • Expert list
    • Expert Review
    Phenotypes
    • Myopathy, myofibrillar, 2, MIM# 608810

    Amber CRYAB in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.207

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

    Amber CRYAB in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • BabySeq Category B gene
    • BabySeq Category A gene
    Phenotypes
    • Myofibrillar myopathy
    • Cardiomyopathy, dilated

    Red CRYAB in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    • BabySeq Category B gene
    Phenotypes
    • Cardiomyopathy, dilated, 1II MIM#615184