HSPB1

heat shock protein family B (small) member 1
OMIM: 602195, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green HSPB1 in Distal myopathies Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 1.29 Signed off v.1.21 on 11 Nov 2020 Component of the following Super Panels: Hypotonic infant Neuromuscular disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Neuropathy, distal hereditary motor type IIB, 608634
Green HSPB1 in Neuromuscular disorders Version 5.92 Signed off v.5.43 on 4 Mar 2020	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Neuropathy, distal hereditary motor type IIB, 608634
Amber HSPB1 in Paediatric motor neuronopathies Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.35 Signed off v.1.30 on 4 Mar 2020 Component of the following Super Panels: Hypotonic infant Neuromuscular disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert
Green HSPB1 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.383	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources South West GLH NHS GMS London North GLH Expert Review Green Emory Genetics Laboratory UKGTN Radboud University Medical Center, Nijmegen Expert list Illumina TruGenome Clinical Sequencing Services Phenotypes Neuropathy, distal hereditary motor, type IIB, 608634 Neuropathy, distal hereditary motor, type IIB, 608634 Charcot Marie Tooth disease, axonal, type 2F, 606595
Green HSPB1 in Hereditary neuropathy NOT PMP22 copy number Version 1.21 Signed off v.1.2 on 27 Feb 2020	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Radboud University Medical Center, Nijmegen South West GLH Expert Review Green UKGTN Emory Genetics Laboratory Expert list London North GLH Illumina TruGenome Clinical Sequencing Services NHS GMS South West GLH NHS GMS London North GLH Phenotypes Charcot Marie Tooth disease, axonal, type 2F, 606595 Neuropathy, distal hereditary motor, type IIB, 608634
Green HSPB1 in Severe Paediatric Disorders Version 1.43	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Neuropathy, distal hereditary motor, type IIB, 608634 Charcot-Marie-Tooth disease, axonal, type 2F, 606595