Genes in panel

Neurodegenerative disorders - adult onset

Gene: DNAJC7

No list

DNAJC7 (DnaJ heat shock protein family (Hsp40) member C7)
EnsemblGeneIds (GRCh38): ENSG00000168259
EnsemblGeneIds (GRCh37): ENSG00000168259
OMIM: 601964, Gene2Phenotype
DNAJC7 is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

I don't know

Two cohort studies in ALS patients identified 11 and 1 patient, respectively, with variants in DNAJC7. Seven of these are putative PTVs. No segregation or functional data. A small number of individuals with LOF variants are present in gnomad albeit less than expected. Given these are cohort studies, and an adult-onset condition, potentially of variable penetrance, we have taken a cautious approach and rated Amber for now but would be interested in other expert opinions. No PMID yet.
Sources: Literature
Created: 8 Sep 2020, 10:33 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
amyotrophic lateral sclerosis

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • amyotrophic lateral sclerosis
OMIM
601964
Clinvar variants
Variants in DNAJC7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: DNAJC7 was added gene: DNAJC7 was added to Neurodegenerative disorders - adult onset. Sources: Literature Mode of inheritance for gene: DNAJC7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DNAJC7 were set to https://doi.org/10.1212/NXG.0000000000000503 Phenotypes for gene: DNAJC7 were set to amyotrophic lateral sclerosis Review for gene: DNAJC7 was set to AMBER