Neonatal cholestasisGene: SLC10A2
Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. Two variants identified as heterozygotes in a single case.
Created: 21 Aug 2018, 9:55 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
ASBT organic solute transporter; cholestasis
This panel has been subjected to extensive internal and external review.
Gene: slc10a2 has been classified as Red List (Low Evidence).
Mode of inheritance for gene: SLC10A2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC10A2 were set to 9109432
Phenotypes for gene: SLC10A2 were set to Bile acid malabsorption, primary 613291
SLC10A2 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
SLC10A2 was created by Ellen McDonagh