Genomics England
GMS Panels
Panels
Genes and Entities

DNAJC3

DnaJ heat shock protein family (Hsp40) member C3
OMIM: 601184
PanelMode of inheritanceDetails
4 panels
Green
in Ataxia and cerebellar anomalies - narrow panel
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 7.19
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, OMIM:616192
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 6.163
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, OMIM:616192
Green
in Monogenic diabetes
R-numbers: R141
Signed-off version 2.60
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, OMIM:616192, juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome, MONDO:0014523
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.79
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, OMIM:616192