Neonatal cholestasis
Gene: SMPD1EnsemblGeneIds (GRCh38): ENSG00000166311
EnsemblGeneIds (GRCh37): ENSG00000166311
OMIM: 607608, Gene2Phenotype
SMPD1 is in 13 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)
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
-
- Lysosomal storage disorder
- Likely inborn error of metabolism
- Cholestasis
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Niemann-Pick disease type A or B
- DDG2P
- Familial pulmonary fibrosis
- Neonatal cholestasis
- Hyperammonaemia
- Fetal hydrops
- Fetal anomalies
History Filter Activity
Panel promoted to version 1.0
Sarah Leigh (Genomics England Curator)This panel has been subjected to extensive internal and external review.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: smpd1 has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: SMPD1 were set to 26499107
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: smpd1 has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: SMPD1 were set to Niemann-Pick disease, type A 257200
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
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: SMPD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)Victorian Clinical Genetics Services was added to SMPD1. Panel: Cholestasis
Added New Source
Ellen McDonagh (Genomics England Curator)SMPD1 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
Created
Ellen McDonagh (Genomics England Curator)SMPD1 was created by Ellen McDonagh