Genomics England

CLN6

CLN6, transmembrane ER protein

Panel	Mode of inheritance	Details
Filter panels9 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 2.23	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 2.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET 204300, CEROID LIPOFUSCINOSIS, NEURONAL, 6 601780
Green in Hereditary ataxia - adult onset R-numbers: R54 Signed-off version 2.13	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 Inborn errors of metabolism Component of the following Super Panels: - Hypotonic infant - Paediatric disorders - White matter disorders - childhood onset R-numbers: R98 Signed-off version 2.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ceroid lipofuscinosis, neuronal, 6, 601780, Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Paediatric disorders - White matter disorders - childhood onset R-numbers: R29 Signed-off version 3.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ceroid lipofuscinosis, neuronal, 6, 601780Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300, CEROID LIPOFUSCINOSIS, NEURONAL, 6
Green in Lysosomal storage disorder R-numbers: R276 Signed-off version 1.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ceroid lipofuscinosis, neuronal, 6 601780, Ceroid lipofuscinosis, neuronal, Kufs type, adult onset 204300
Green in Neurodegenerative disorders - adult onset R-numbers: R58 Signed-off version 2.178	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ceroid lipofuscinosis, neuronal, 6, OMIM:601780, Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, OMIM:204300
Green in Neuronal ceroid lipofuscinosis R-numbers: R231 Signed-off version 1.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes
Green in Retinal disorders R-numbers: R32, R33, R34, R35 Signed-off version 2.195	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Eye Disorders, Ceroid lipofuscinosis, neuronal, 6 601780