Genomics England

NHLRC1

NHL repeat containing E3 ubiquitin protein ligase 1

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Adult onset neurodegenerative disorder R-numbers: R58 Signed-off version 4.34	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Epilepsy, progressive myoclonic 2B (Lafora), OMIM:254780
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Epilepsy, progressive myoclonic 2B (Lafora)
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Epilepsy, progressive myoclonic 2B (Lafora) 254780
Green in Glycogen storage disease R-numbers: R274 Signed-off version 2.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Epilepsy, progressive myoclonic 2B (Lafora) 254780
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Progressive myoclonic epilepsy 2B, Lafora, 254780, Epilepsy, progressive myoclonic 2B (Lafora) 254780
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 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Epilepsy, progressive myoclonic 2B (Lafora)