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Prepair 1000+

Gene: SMPD1

Green List (high evidence)

SMPD1 (sphingomyelin phosphodiesterase 1)
EnsemblGeneIds (GRCh38): ENSG00000166311
EnsemblGeneIds (GRCh37): ENSG00000166311
OMIM: 607608, Gene2Phenotype
SMPD1 is in 12 panels

1 review

Cassandra Muller (Victorian Clinical Genetics Services)

Green List (high evidence)

Niemann-Pick disease type A is a neurodegenerative disease with onset in infancy, often result in death by 3 years old. Type B is childhood onset and often survive into adulthood, with no neurological manifestations. A and B are a clinical continuum of disease and both are multi system.
Created: 5 Mar 2025, 5:49 a.m. | Last Modified: 5 Mar 2025, 5:49 a.m.
Panel Version: 1.1566

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Niemann-Pick disease, type A, 257200 (3); Niemann-Pick disease, type B, 607616 (3)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Niemann-Pick disease, type A, 257200
  • Niemann-Pick disease, type B, 607616
OMIM
607608
Clinvar variants
Variants in SMPD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Mar 2025, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: smpd1 has been classified as Green List (High Evidence).

6 Mar 2025, Gel status: 3

Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

Phenotypes for gene: SMPD1 were changed from Niemann-Pick disease, type A, 257200 (3) to Niemann-Pick disease, type A, 257200; Niemann-Pick disease, type B, 607616

6 Mar 2025, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: SMPD1 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Niemann-Pick disease, type A, 257200 (3) for gene: SMPD1

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SMPD1 was added gene: SMPD1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SMPD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SMPD1 were set to Niemann-Pick disease, type A, 257200 (3)