CRYAB

crystallin alpha B
OMIM: 123590, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green CRYAB in Cataract Level 2: Ophthalmological disorders Version 0.373	1 review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red CRYAB in Dilated Cardiomyopathy Level 2: Cardiovascular disorders Version 1.37 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 1.2302	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 1.42 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 0.196	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
Amber CRYAB in BabyScreen+ newborn screening Level 2: Screening Version 1.116	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Amber BabySeq Category B gene Phenotypes Myofibrillar myopathy Cardiomyopathy, dilated