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Niemann-Pick disease type A or B
Gene: SMPD1
SMPD1 (sphingomyelin phosphodiesterase 1)
EnsemblGeneIds (GRCh38): ENSG00000166311
EnsemblGeneIds (GRCh37): ENSG00000166311
OMIM: 607608, Gene2Phenotype
SMPD1 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000166311
EnsemblGeneIds (GRCh37): ENSG00000166311
OMIM: 607608, Gene2Phenotype
SMPD1 is in 13 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #257200 & #607616) and the OMIM records were last accessed on 29 December 2025.Created: 29 Dec 2025, 11:30 a.m. | Last Modified: 29 Dec 2025, 11:30 a.m.
Panel Version: 1.2
SMPD1 has been added to the panel for R282 Niemann-Pick disease type A or B with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 3:18 p.m. | Last Modified: 30 Jun 2023, 3:18 p.m.
Panel Version: 0.1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Niemann-Pick disease, type A, OMIM:257200
- Niemann-Pick disease, type B, OMIM:607616
- Niemann-Pick disease type A, MONDO:0009756
- Niemann-Pick disease type B, MONDO:0011871
- OMIM
- 607608
- Clinvar variants
- Variants in SMPD1
- Penetrance
- None
- Panels with this gene
-
- Fetal hydrops
- Lysosomal storage disorder
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Cholestasis
- Undiagnosed metabolic disorders
- Niemann-Pick disease type A or B
- Fetal anomalies
- DDG2P
- Familial pulmonary fibrosis
- Neonatal cholestasis
- Intellectual disability
- Hyperammonaemia
History Filter Activity
29 Dec 2025, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: SMPD1 were changed from to Niemann-Pick disease, type A, OMIM:257200; Niemann-Pick disease, type B, OMIM:607616; Niemann-Pick disease type A, MONDO:0009756; Niemann-Pick disease type B, MONDO:0011871
30 Jun 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: SMPD1 was added gene: SMPD1 was added to Niemann-Pick disease type A or B. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SMPD1 was set to BIALLELIC, autosomal or pseudoautosomal