Genomics England

DNAJC5

DnaJ heat shock protein family (Hsp40) member C5

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Adult onset neurodegenerative disorder R-numbers: R58 Signed-off version 5.4	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 5.3	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 5.3	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 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 5.6	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