HSPB8

heat shock protein family B (small) member 8
OMIM: 608014, ClinGen, DECIPHER

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green HSPB8 in Mendeliome Version 1.2302	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopathy, myofibrillar, 13, with rimmed vacuoles, MIM# 621078 Distal myopathy Vacuolar myopathy Neuropathy, distal hereditary motor type IIA, 158590 Charcot-Marie-Tooth disease, axonal, type 2L, MIM# 608673
Green HSPB8 in Hereditary Neuropathy_CMT - isolated Level 2: Neurology and neurodevelopmental disorders Version 1.51 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes HMSN, dHMN/dSMA Neuropathy, distal hereditary motor, type IIA, 158590 Charcot Marie Tooth disease, axonal, type 2L, 608673
Green HSPB8 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	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopathy, myofibrillar, 13, with rimmed vacuoles, MIM# 621078 autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome MONDO:0018773
Green HSPB8 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Charcot-Marie-Tooth disease, axonal, type 2L
Red HSPB8 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category A gene Phenotypes Neuropathy, distal hereditary motor type IIA, 158590 Charcot-Marie-Tooth disease, axonal, type 2L, MIM# 608673