Genomics England

NPC2

NPC intracellular cholesterol transporter 2

Panel	Mode of inheritance	Details
Filter panels10 panels
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Niemann-Pick disease type C2, 607625
Green in Childhood onset dystonia or chorea or related movement disorder R-numbers: R57 Signed-off version 2.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Niemann-pick disease, type C2, 607625
Green in Cholestasis R-numbers: R171 Signed-off version 2.2	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 2.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes NIEMANN-PICK DISEASE, TYPE C2
Green in Hereditary ataxia - adult onset R-numbers: R54 Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Niemann-Pick disease type C2 (#607625), Niemann-Pick disease type C2, 607625
Green in Inborn errors of metabolism Component of the following Super Panels: - Hypotonic infant - Paediatric disorders - White matter disorders - childhood onset R-numbers: R98 Signed-off version 3.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Niemann-Pick disease type C2, 607625
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Paediatric disorders - White matter disorders - childhood onset R-numbers: R29 Signed-off version 4.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes NIEMANN-PICK DISEASE, TYPE C2
Green in Lysosomal storage disorder R-numbers: R276 Signed-off version 2.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Niemann-pick disease, type C2 OMIM:607625, Niemann-Pick disease, type C2 MONDO:0011873
Green in Neurodegenerative disorders - adult onset R-numbers: R58 Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Dystonia, Niemann-Pick disease, type C2, OMIM:607625