Genomics England

CLN8

CLN8, transmembrane ER and ERGIC protein

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes NEURONAL CEROID LIPOFUSCINOSIS TYPE 8 NORTHERN EPILEPSY VARIANT 610003, NEURONAL CEROID LIPOFUSCINOSIS TYPE 8 600143
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 R-numbers: R59 Signed-off version 6.9	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ceroid lipofuscinosis, neuronal, 8 600143, Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003
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, 8, 600143Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003, NEURONAL CEROID LIPOFUSCINOSIS TYPE 8 (CLN8)
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, 8
Green in Lysosomal storage disorder R-numbers: R276 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ceroid lipofuscinosis, neuronal, 8 OMIM:600143, neuronal ceroid lipofuscinosis 8 MONDO:0010830, Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant OMIM:610003, neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0012391
Green in Neuronal ceroid lipofuscinosis R-numbers: R231 Signed-off version 2.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ceroid lipofuscinosis, neuronal, 8 OMIM:600143, neuronal ceroid lipofuscinosis 8 MONDO:0010830, Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant OMIM:610003, neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0012391
Green in Retinal disorders R-numbers: R32 Signed-off version 6.16	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Eye Disorders, Ceroid lipofuscinosis, neuronal, 8, 600143