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Hereditary Neuropathy_CMT - isolated

Gene: DNAJB2

Green List (high evidence)
DNAJB2 (DnaJ heat shock protein family (Hsp40) member B2)
EnsemblGeneIds (GRCh38): ENSG00000135924
EnsemblGeneIds (GRCh37): ENSG00000135924
OMIM: 604139, Gene2Phenotype
DNAJB2 is in 3 panels

2 reviews

Lauren Rogers (Victorian Clinical Genetics Services)

Phenotypes
Neuronopathy, distal hereditary motor, autosomal recessive 5 (MIM#614881)

Created: 19 Oct 2023, 11:47 p.m.
Last Modified: 19 Oct 2023, 11:47 p.m.
Panel version: 1.33

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

DSMA5 is an autosomal recessive neurologic disorder characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes due to impaired function of motor nerves. Sensation and cognition are not impaired.

More than 3 unrelated families reported.
Created: 25 May 2021, 10:51 a.m. | Last Modified: 25 May 2021, 10:51 a.m.
Panel Version: 0.184

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinal muscular atrophy, distal, autosomal recessive, 5, MIM# 614881; MONDO:0014866

Publications

Created: 25 May 2021, 10:51 a.m.
Last Modified: 25 May 2021, 10:51 a.m.
Panel version: 0.184

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Neuronopathy, distal hereditary motor, autosomal recessive 5 (MIM#614881)
OMIM
604139
Clinvar variants
Variants in DNAJB2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Oct 2023, Gel status: 3

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: DNAJB2 were changed from HMSN, dHMN/dSMA; Spinal muscular atrophy, distal, autosomal recessive, 5, MIM#614881; MONDO:0014866 to Neuronopathy, distal hereditary motor, autosomal recessive 5 (MIM#614881)

25 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dnajb2 has been classified as Green List (High Evidence).

25 May 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DNAJB2 were changed from HMSN, dHMN/dSMA; Spinal muscular atrophy, distal, autosomal recessive, 5, MIM#614881 to HMSN, dHMN/dSMA; Spinal muscular atrophy, distal, autosomal recessive, 5, MIM#614881; MONDO:0014866

25 May 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DNAJB2 were set to

13 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: DNAJB2 was added gene: DNAJB2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: DNAJB2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAJB2 were set to HMSN, dHMN/dSMA; Spinal muscular atrophy, distal, autosomal recessive, 5, MIM#614881