Genes in panel

Neurodegenerative disorders - adult onset

Gene: DNAJB2

No list

DNAJB2 (DnaJ heat shock protein family (Hsp40) member B2)
EnsemblGeneIds (GRCh38): ENSG00000135924
EnsemblGeneIds (GRCh37): ENSG00000135924
OMIM: 604139, Gene2Phenotype
DNAJB2 is in 5 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Young adult onset, progressive neurological disorder, phenotype resembles ALS.
Sources: Expert list
Created: 27 Sep 2020, 11:13 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinal muscular atrophy, distal, autosomal recessive, 5, 614881

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Spinal muscular atrophy, distal, autosomal recessive, 5, 614881
OMIM
604139
Clinvar variants
Variants in DNAJB2
Penetrance
None
Panels with this gene

History Filter Activity

27 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: DNAJB2 was added gene: DNAJB2 was added to Neurodegenerative disorders - adult onset. Sources: Expert list Mode of inheritance for gene: DNAJB2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAJB2 were set to Spinal muscular atrophy, distal, autosomal recessive, 5, 614881 Review for gene: DNAJB2 was set to GREEN