Genomics England

NPC2

NPC intracellular cholesterol transporter 2

Panel	Mode of inheritance	Details
Filter panels11 panels
Green in Adult onset neurodegenerative disorder R-numbers: R58 Signed-off version 4.34	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Dystonia, Niemann-Pick disease, type C2, OMIM:607625
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 Niemann-Pick disease type C2, 607625
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Niemann-pick disease, type C2, 607625
Green in Cholestasis R-numbers: R171 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neonatal and Adult Cholestasis, Niemann-Pick disease type C2, 607625
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes NIEMANN-PICK DISEASE, TYPE C2 607625
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes NIEMANN-PICK DISEASE, TYPE C2
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Niemann-Pick disease type C2 (#607625), Niemann-Pick disease type C2, 607625
Green in Intellectual disability - microarray and sequencing Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes NIEMANN-PICK DISEASE, TYPE C2
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 Niemann-Pick disease type C2, 607625
Green in Lysosomal storage disorder R-numbers: R276 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Niemann-pick disease, type C2 OMIM:607625, Niemann-Pick disease, type C2 MONDO:0011873
Green in Niemann Pick disease type C R-numbers: R380 Signed-off version 1.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes