DNAJB2

DnaJ heat shock protein family (Hsp40) member B2
OMIM: 604139, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Red DNAJB2 in Other rare neuromuscular disorders Version 19.202 Latest signed off version: v19.1 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Spinal muscular atrophy, distal, autosomal recessive, 5, 614881
Green DNAJB2 in Adult onset neurodegenerative disorder Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes Spinal muscular atrophy, distal, autosomal recessive, 5, OMIM:614881 young adult-onset distal hereditary motor neuropathy, MONDO:0013947
Red DNAJB2 in Paediatric motor neuronopathies Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 3.6 Latest signed off version: v3.3 (22 Mar 2023) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Radboud University Medical Center, Nijmegen Phenotypes Spinal muscular atrophy, distal, autosomal recessive, 5, 614881
Green DNAJB2 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.477	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green South West GLH NHS GMS London North GLH Emory Genetics Laboratory Expert list Phenotypes Hereditary Neuropathies
Green DNAJB2 in Hereditary neuropathy or pain disorder Version 3.94 Latest signed off version: v3.24 (15 May 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green South West GLH Emory Genetics Laboratory Expert list London North GLH NHS GMS South West GLH NHS GMS London North GLH Phenotypes Hereditary Neuropathies