Neonatal cholestasis
Gene: SMPD1Comment 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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Niemann pick type B; cholestasis
This panel has been subjected to extensive internal and external review.
Gene: smpd1 has been classified as Green List (High Evidence).
Publications for gene: SMPD1 were set to 26499107
Gene: smpd1 has been classified as Green List (High Evidence).
Phenotypes for gene: SMPD1 were set to Niemann-Pick disease, type A 257200
Phenotypes for gene: SMPD1 were set to Niemann-Pick disease, type A 257200; Niemann-Pick disease, type B 607616
Mode of inheritance for gene: SMPD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Victorian Clinical Genetics Services was added to SMPD1. Panel: Cholestasis
SMPD1 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
SMPD1 was created by Ellen McDonagh