Genomics England

NPC1

NPC intracellular cholesterol transporter 1

Panel	Mode of inheritance	Details
Filter panels12 panels
Green in Adult onset neurodegenerative disorder R-numbers: R58 Signed-off version 4.41	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Niemann-Pick disease, type C1, OMIM:257220, Niemann-Pick disease, type D, OMIM:257220
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 Niemann-Pick disease types C1 and D (#257220)
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 3.56	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Niemann-Pick disease, type C1, 257220, Niemann-Pick disease, type D, 257220
Green in Cholestasis R-numbers: R171 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Niemann-Pick disease, type D, 257220, Niemann-Pick disease type C1, 257220, Neonatal and Adult Cholestasis
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.79	BIALLELIC, autosomal or pseudoautosomal	Phenotypes NIEMANN-PICK DISEASE, TYPE C1 257220
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.122	BIALLELIC, autosomal or pseudoautosomal	Phenotypes NIEMANN-PICK DISEASE, TYPE C1
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 4.26	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Niemann-Pick disease type C1, 257220, Niemann-Pick disease types C1 and D (#257220)
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 NIEMANN-PICK DISEASE, TYPE C1
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 Niemann-Pick disease, type C1
Green in Lysosomal storage disorder R-numbers: R276 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Niemann-Pick disease, type D OMIM:257220, Niemann-Pick disease, type C1 OMIM:257220, Niemann-Pick disease, type C1 MONDO:0009757
Green in Niemann Pick disease type C R-numbers: R380 Signed-off version 1.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 4.123	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Very Early Onset Inflammatory Bowel Disease