NPC2

NPC intracellular cholesterol transporter 2
OMIM: 601015
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 type C2, 607625
R-numbers: R57
Signed-off version 1.58
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Niemann-pick disease, type C2, 607625
Green
in Cholestasis
R-numbers: R171
Signed-off version 1.21
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 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NIEMANN-PICK DISEASE, TYPE C2 607625
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NIEMANN-PICK DISEASE, TYPE C2
R-numbers: R54
Signed-off version 2.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Niemann-Pick disease type C2 (#607625), Niemann-Pick disease type C2, 607625
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 C2, 607625
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 C2
R-numbers: R276
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Niemann-pick disease, type C2 607625
R-numbers: R58
Signed-off version 2.31
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dystonia, Niemann-Pick disease type C2 (#607625)