SMPD1

sphingomyelin phosphodiesterase 1
OMIM: 607608
PanelMode of inheritanceDetails
5 panels
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 B 607616, NIEMANN-PICK DISEASE TYPE A 257200
R-numbers: R21
Signed-off version 1.92
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 2.3
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 3.2
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 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Niemann-Pick disease, type A 257200, Niemann-Pick disease, type B 607616