NPC1

NPC intracellular cholesterol transporter 1
OMIM: 607623
PanelMode of inheritanceDetails
12 panels
R-numbers: R58
Signed-off version 5.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Niemann-Pick disease, type C1, OMIM:257220, Niemann-Pick disease, type D, OMIM:257220
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Niemann-Pick disease types C1 and D (#257220)
R-numbers: R57
Signed-off version 4.3
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 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NIEMANN-PICK DISEASE, TYPE C1 257220
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NIEMANN-PICK DISEASE, TYPE C1
R-numbers: R54
Signed-off version 5.3
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:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NIEMANN-PICK DISEASE, TYPE C1
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 5.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Niemann-Pick disease, type C1
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
R-numbers: R380
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
R-numbers: R15
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Very Early Onset Inflammatory Bowel Disease