Cholestasis
Gene: SLC51A

SLC51A (solute carrier family 51 alpha subunit)
EnsemblGeneIds (GRCh38): ENSG00000163959
EnsemblGeneIds (GRCh37): ENSG00000163959
OMIM: 612084, Gene2Phenotype
SLC51A is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single individual reported with homozygous LoF variant, who presented with chronic malabsorptive diarrhoea, easy bruising, episodes of prolonged bleeding that required blood transfusions, and failure to thrive. Laboratory testing at age 2.5 years showed elevated liver transaminases and alkaline phosphatase. Liver biopsy demonstrated portal and periportal fibrosis and hepatocytes with foci of hepatocytic cholestasis. Analysis of bile acids in a blood spot were normal. Treatment with ursodiol and cholestyramine was started at 5 years of age. The coagulopathy resolved and his growth was adequate, but his liver transaminases, direct bilirubin, and GGT levels remained elevated.
Sources: Literature
Created: 15 Aug 2021, 2:22 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cholestasis, progressive familial intrahepatic, 6, MIM# 619484

Publications

31863603

Created: 15 Aug 2021, 2:22 a.m.

Panel version: 0.203

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Literature

Phenotypes

Cholestasis, progressive familial intrahepatic, 6, MIM# 619484

OMIM

612084

Clinvar variants

Variants in SLC51A

Penetrance

None

Publications

31863603

Panels with this gene

History Filter Activity

15 Aug 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc51a has been classified as Red List (Low Evidence).

15 Aug 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes