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  3. DNAJB2
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Paediatric motor neuronopathies

Gene: DNAJB2

Red List (low evidence)
DNAJB2 (DnaJ heat shock protein family (Hsp40) member B2)
EnsemblGeneIds (GRCh38): ENSG00000135924
EnsemblGeneIds (GRCh37): ENSG00000135924
OMIM: 604139, Gene2Phenotype
DNAJB2 is in 4 panels

1 review

Alice Gardham (Genomics England)

Mutations only identified in two families
Created: 26 Jan 2017, 11:28 a.m.
Created: 2 Nov 2016, 2:36 p.m.

Panel version: 0.15

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spinal muscular atrophy, distal, autosomal recessive, 5, 614881
OMIM
604139
Clinvar variants
Variants in DNAJB2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

7 Mar 2017, Gel status: 1

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Gene panel promoted to v1 on 7 March 2017 following external review and internal curation

26 Jan 2017, Gel status: 1

Set publications

Alice Gardham (Genomics England)

Publications for DNAJB2 were set to 22522442

26 Jan 2017, Gel status: 1

Set Mode of Inheritance

Alice Gardham (Genomics England)

Mode of inheritance for DNAJB2 was changed to BIALLELIC, autosomal or pseudoautosomal

3 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

2 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

2 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

8 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

DNAJB2 was added to Paediatric motor neuronopathiespanel. Sources: Expert

30 Apr 2015, Gel status: 1

Added New Source

Antonio Rueda (GEL)

DNAJB2 was added to Paediatric motor neuronopathiespanel. Sources: Radboud University Medical Center, Nijmegen