NPC1

NPC intracellular cholesterol transporter 1
OMIM: 607623
PanelMode of inheritanceDetails
10 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.23
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Niemann-Pick disease types C1 and D (#257220)
R-numbers: R57
Signed-off version 1.58
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 1.21
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 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NIEMANN-PICK DISEASE, TYPE C1 257220
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NIEMANN-PICK DISEASE, TYPE C1
R-numbers: R54
Signed-off version 2.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Niemann-Pick disease type C1, 257220, Niemann-Pick disease types C1 and D (#257220)
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Niemann-Pick disease, type C1
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NIEMANN-PICK DISEASE, TYPE C1
R-numbers: R276
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Niemann-Pick disease, type D 257220, Niemann-Pick disease, type C1 257220
R-numbers: R58
Signed-off version 2.31
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Niemann-Pick disease types C1 and D (#257220)