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  3. SMPD1
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Lysosomal storage disorder

Gene: SMPD1

Green List (high evidence)
SMPD1 (sphingomyelin phosphodiesterase 1)
EnsemblGeneIds (GRCh38): ENSG00000166311
EnsemblGeneIds (GRCh37): ENSG00000166311
OMIM: 607608, Gene2Phenotype
SMPD1 is in 13 panels

2 reviews

Emma Ashton (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 13 Feb 2019, 1:33 p.m.

Panel version: 0.3

Carol Hardy (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Variants in this GENE are reported as part of current diagnostic practice

Created: 13 Feb 2019, 1:33 p.m.

Panel version: 0.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • North London GLH
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
OMIM
607608
Clinvar variants
Variants in SMPD1
Penetrance
None
Panels with this gene

History Filter Activity

16 Mar 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

13 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: SMPD1 was added gene: SMPD1 was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS 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; Niemann-Pick disease, type B 607616