Genomics England

CLN6

CLN6, transmembrane ER protein

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Adult onset neurodegenerative disorder R-numbers: R58 Signed-off version 4.41	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ceroid lipofuscinosis, neuronal, 6, OMIM:601780, Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, OMIM:204300
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	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 3.79	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CEROID LIPOFUSCINOSIS, NEURONAL, 6, OMIM:601780, CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET, OMIM:204300
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 4.26	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
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.343	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ceroid lipofuscinosis, neuronal, 6, 601780Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300, CEROID LIPOFUSCINOSIS, NEURONAL, 6
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	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ceroid lipofuscinosis, neuronal, 6, 601780, Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300
Green in Lysosomal storage disorder 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
Green in Neuronal ceroid lipofuscinosis 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
Green in Retinal disorders R-numbers: R32 Signed-off version 4.42	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Eye Disorders, Ceroid lipofuscinosis, neuronal, 6 601780