Genomics England
GMS Panels
Panels
Genes and Entities

CLN5

CLN5, intracellular trafficking protein
OMIM: 608102
PanelMode of inheritanceDetails
8 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 6.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 5 OMIM:256731, neuronal ceroid lipofuscinosis 5 MONDO:0009745
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 5.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 5 OMIM:256731, neuronal ceroid lipofuscinosis 5 MONDO:0009745
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 5 OMIM:256731, neuronal ceroid lipofuscinosis 5 MONDO:0009745
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.51
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 5 OMIM:256731, neuronal ceroid lipofuscinosis 5 MONDO:0009745
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 6.14
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 5 OMIM:256731, neuronal ceroid lipofuscinosis 5 MONDO:0009745
Green
in Lysosomal storage disorder
R-numbers: R276
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 5 OMIM:256731, neuronal ceroid lipofuscinosis 5 MONDO:0009745
Green
in Neuronal ceroid lipofuscinosis
R-numbers: R231
Signed-off version 2.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 5 OMIM:256731, neuronal ceroid lipofuscinosis 5 MONDO:0009745
Green
in Retinal disorders
R-numbers: R32
Signed-off version 6.16
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 5 OMIM:256731, neuronal ceroid lipofuscinosis 5 MONDO:0009745