Genomics England
GMS Panels
Panels
Genes and Entities

DNAJC19

DnaJ heat shock protein family (Hsp40) member C19
OMIM: 608977
PanelMode of inheritanceDetails
7 panels
Green
in Ataxia and cerebellar anomalies - childhood onset
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies, childhood onset
Signed-off version 9.22
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria, type V
Green
in Hereditary ataxia, adult onset
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 9.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria, type V 610198, dilated cardiomyopathy with ataxia (DCMA) syndrome, 3-methylglutaconic aciduria type V, 610198
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria, type V, 610198
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 9.29
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria, type V, 610198, Disorders of the mitochondrial import system, 3-methylglutaconic aciduria, type V
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - Leukodystrophy, childhood onset
Signed-off version 10.18
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Disorders of the mitochondrial import system, 3-methylglutaconic aciduria, type V, 610198
Green
in Paediatric or syndromic cardiomyopathy
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R135
Signed-off version 8.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
dilated cardiomyopathy with ataxia syndrome, 3-methylglutaconic aciduria, type V, 610198, Disorders of the mitochondrial import system, 3-methylglutaconic aciduria, type V
Green
in Possible mitochondrial disorder, nuclear genes
R-numbers: R63
Signed-off version 5.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria, type V, 610198