Neonatal cholestasisGene: SLC10A1
Comment when marking as ready: Not associated with phenotype in OMIM or in Gen2Phen. At least 3 variants reported in 3 unrelated cases. PMID 24867799 first reported case of sodium taurocholate cotransporting polypeptide (SLC10A1) deficiency, but with no clinical signs of cholestatic jaundice, pruritis, or liver dysfunction. Cholestasis and liver disfunction were reported in the other publications listed (all from the same group). Doubt about variant c.800C>T (p. Ser267Phe) which has been reported in normal controls and has a high allele frequency in some populations. Apparently no functional studies have been performed.
Created: 15 Aug 2018, 3:37 p.m.
Comment on phenotypes: with prominent hypercholanemia and cholestasis (in some cases)
Created: 15 Aug 2018, 2:59 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
sodium taurocholate cotransporting polypeptide deficiency; cholestasis
This panel has been subjected to extensive internal and external review.
Gene: slc10a1 has been classified as Red List (Low Evidence).
Mode of inheritance for gene: SLC10A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC10A1 were set to 29658451; 24867799; 28835676; 27882152; 29290974
Phenotypes for gene: SLC10A1 were set to Sodium taurocholate cotransporting polypeptide deficiency
Publications for gene: SLC10A1 were set to 29658451; 24867799; 28835676; 27882152
SLC10A1 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
SLC10A1 was created by Ellen McDonagh