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 5.4	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 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Epilepsy, progressive myoclonic 2B (Lafora)
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 5.10	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 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Progressive myoclonic epilepsy 2B, Lafora, 254780, Epilepsy, progressive myoclonic 2B (Lafora) 254780
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 5.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Epilepsy, progressive myoclonic 2B (Lafora)