SMPD1

sphingomyelin phosphodiesterase 1
OMIM: 607608
PanelMode of inheritanceDetails
6 panels
Green
in Cholestasis
R-numbers: R171
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Niemann-Pick disease, type A, OMIM:257200, MONDO:0009756
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 B 607616, NIEMANN-PICK DISEASE TYPE A 257200
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NIEMANN-PICK DISEASE TYPE B, NIEMANN-PICK DISEASE TYPE A
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 A, 257200, Niemann-Pick disease, type B, 607616
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 A, 257200Niemann-Pick disease, type B, 607616, NIEMANN-PICK DISEASE TYPE A (NPDA)
R-numbers: R276
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Niemann-Pick disease, type A OMIM:257200, Niemann-Pick disease type A MONDO:0009756, Niemann-Pick disease, type B OMIM:607616, Niemann-Pick disease type B MONDO:0011871