Genomics England
GMS Panels
Panels
Genes and Entities

SMPD1

sphingomyelin phosphodiesterase 1
OMIM: 607608
PanelMode of inheritanceDetails
7 panels
Green
in Cholestasis
R-numbers: R171
Signed-off version 3.0
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 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NIEMANN-PICK DISEASE TYPE B 607616, NIEMANN-PICK DISEASE TYPE A 257200
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NIEMANN-PICK DISEASE TYPE B, NIEMANN-PICK DISEASE TYPE A
Green
in Intellectual disability
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 A, 257200Niemann-Pick disease, type B, 607616, NIEMANN-PICK DISEASE TYPE A (NPDA)
Green
in Likely inborn error of metabolism
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 A, 257200, Niemann-Pick disease, type B, 607616
Green
in Lysosomal storage disorder
R-numbers: R276
Signed-off version 3.0
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
Green
in Niemann-Pick disease type A or B
R-numbers: R282
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes