Genomics England
GMS Panels
Panels
Genes and Entities

CLN3

CLN3, battenin
OMIM: 607042
PanelMode of inheritanceDetails
8 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NEURONAL CEROID LIPOFUSCINOSIS TYPE 3 204200
Green
in Dystonia, chorea or related movement disorder, childhood onset
R-numbers: R57
Signed-off version 8.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 3, 204200
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
Signed-off version 9.56
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 3 204200
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
Ceroid lipofuscinosis, neuronal, 3, 204200, NEURONAL CEROID LIPOFUSCINOSIS TYPE 3 (CLN3)
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
Ceroid lipofuscinosis, neuronal, 3, 204200
Green
in Lysosomal storage disorder
R-numbers: R276
Signed-off version 3.10
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 3 OMIM:204200, neuronal ceroid lipofuscinosis 3 MONDO:0008767
Green
in Neuronal ceroid lipofuscinosis
R-numbers: R231
Signed-off version 3.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 3 OMIM:204200, neuronal ceroid lipofuscinosis 3 MONDO:0008767
Green
in Retinal disorders
R-numbers: R32
Signed-off version 9.14
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Eye Disorders, Retinitis pigmentosa