Neonatal cholestasis

Gene: SMPD1

Green List (high evidence)

SMPD1 (sphingomyelin phosphodiesterase 1)
EnsemblGeneIds (GRCh38): ENSG00000166311
EnsemblGeneIds (GRCh37): ENSG00000166311
OMIM: 607608, Gene2Phenotype
SMPD1 is in 11 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with relevant phenotypes in OMIM and as confirmed Gen2Phen gene. Numerous variants reported in cases from different populations.
Created: 21 Aug 2018, 9:42 a.m.
Comment on publications: PMID 26499107 reports update and analysis of a locus / disease specific database for SMPD1 and Niemann-Pick disease, types A & B.
Created: 21 Aug 2018, 9:41 a.m.
Comment on phenotypes: Phenotypic features of Niemann-Pick disease, type A include hepatomegaly and neonatal jaundice therefore making SMPD1 relevant to the Neonatal cholestasis panel. Hepatomegaly is also a feature of Niemann-Pick disease, type B, however, this is only manifest in adulthood and the overall phenotype is less severe than Niemann-Pick disease, type A, thus this phenotype is not relevant to the Neonatal cholestasis panel.
Created: 21 Aug 2018, 9:36 a.m.

Jane Hartley (Birmingham Women and Children's Hospital)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Niemann pick type B; cholestasis

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
Phenotypes
  • Niemann-Pick disease, type A 257200
OMIM
607608
Clinvar variants
Variants in SMPD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Sep 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been subjected to extensive internal and external review.

21 Aug 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

21 Aug 2018, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SMPD1 were set to 26499107

21 Aug 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

21 Aug 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SMPD1 were set to Niemann-Pick disease, type A 257200

21 Aug 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

21 Aug 2018, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: SMPD1 was changed from to BIALLELIC, autosomal or pseudoautosomal

21 Jun 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to SMPD1. Panel: Cholestasis

18 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SMPD1 was added to Cholestasis panel. Sources: Emory Genetics Laboratory

18 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

SMPD1 was created by Ellen McDonagh