CLN6

CLN6, transmembrane ER protein
OMIM: 606725
PanelMode of inheritanceDetails
9 panels
R-numbers: R58
Signed-off version 5.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 6, OMIM:601780, Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, OMIM:204300
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 6, 601780, Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CEROID LIPOFUSCINOSIS, NEURONAL, 6, OMIM:601780, CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET, OMIM:204300
R-numbers: R54
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid neuronal lipofuscinosis kufs type, 204300, Ceroid lipofuscinosis, neuronal, 6, 601780, Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300, Ceroid neuronal lipofuscinosis 6, 601780
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 6, 601780Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300, CEROID LIPOFUSCINOSIS, NEURONAL, 6
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 6, 601780, Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300
R-numbers: R276
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 6 OMIM:601780, neuronal ceroid lipofuscinosis 6 MONDO:0011144, Ceroid lipofuscinosis, neuronal, Kufs type, adult onset OMIM:204300, neuronal ceroid lipofuscinosis 4A MONDO:0008768
R-numbers: R231
Signed-off version 2.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 6 OMIM:601780, neuronal ceroid lipofuscinosis 6 MONDO:0011144, Ceroid lipofuscinosis, neuronal, Kufs type, adult onset OMIM:204300, neuronal ceroid lipofuscinosis 4A MONDO:0008768
R-numbers: R32
Signed-off version 5.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Eye Disorders, Ceroid lipofuscinosis, neuronal, 6 601780