Genomics England
GMS Panels
Panels
Genes and Entities

DNAJC5

DnaJ heat shock protein family (Hsp40) member C5
OMIM: 611203
PanelMode of inheritanceDetails
6 panels
Green
in Adult onset neurodegenerative disorder
R-numbers: R58
Signed-off version 4.41
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ceroid lipofuscinosis, neuronal, 4, Parry type, OMIM:162350
Green
in Ataxia and cerebellar anomalies - narrow panel
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 4.40
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ceroid lipofuscinosis, neuronal, 4, Parry type
Green
in Hereditary ataxia with onset in adulthood
R-numbers: R54
Signed-off version 4.26
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ceroid neuronal lipofuscinosis 4, Parry type, 162350, Ceroid lipofuscinosis, neuronal, 4, Parry type 162350
Green
in Likely inborn error of metabolism - targeted testing not possible
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 4.78
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350
Green
in Lysosomal storage disorder
R-numbers: R276
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ceroid lipofuscinosis, neuronal, 4, Parry type OMIM:162350, neuronal ceroid lipofuscinosis 4B MONDO:0008083
Green
in Neuronal ceroid lipofuscinosis
R-numbers: R231
Signed-off version 2.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ceroid lipofuscinosis, neuronal, 4, Parry type OMIM:162350, neuronal ceroid lipofuscinosis 4B MONDO:0008083