Neonatal cholestasisGene: SLC27A5
Comment when marking as ready: Not associated with phenotype in OMIM or in Gen2Phen. A homozygous SLC27A5 variant (c.1012C>T, p.H338Y) was identified in two sibblings; the index case was born prematurely (27 weeks) and developed jaundice, with extensive fibrosis and architectural distortion, in addition the bile acids in her plasma and urine were >85% unconjugated (non-amidated). She was also homozygous for a deleterious variant in ABCB11 (well established neonatal cholestasis associated gene). The sister was heterozygous for the ABCB11 variant, however, she had the same bile-acid phenotype but not the clinical liver damage, thereby suggesting that SLC27A5 may have some impact of the severity of the condition in this case (PMID 22089923).
Created: 21 Aug 2018, 10:22 a.m.
SLC27A5 is on the King's College Hospital NHS Foundation Trust diagnostic cholestasis gene panel for Bile acid synthesis disorders
Created: 25 Jul 2018, 4:27 p.m.
This panel has been subjected to extensive internal and external review.
Gene: slc27a5 has been classified as Red List (Low Evidence).
Mode of inheritance for gene: SLC27A5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC27A5 were set to 23415802; 22089923
Victorian Clinical Genetics Services was added to SLC27A5. Panel: Cholestasis
SLC27A5 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
SLC27A5 was created by Ellen McDonagh