Neonatal cholestasis

Gene: SERPINA1

PMID: 26126923 reports no increase in frequency of SERPINA1 variants in cases compared with controls, however, double and triple variants including SERPINA1 and ATP8B1, ABCB11, JAG1 or ABCB4 were more frequent in cases. In PMID: 26003074 SERPINA1 gene variants were not found more frequents in children with cystic fibrosis and coexisting features of damaged liver and cholestasis than those without hepatic involvement. Overall it appears that SERPINA1 variants are not associated with Cholestasis without the involvement of other gene variants also.

Created: 25 Jul 2018, 12:17 p.m.

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
cholestasis, alpha-1-antitrypsin deficiency

I don't know

We have identified 10 carriers; also 5 homozygotes for the common pathogenic variants in a cohort of ~160 patients tested; it is not clear in the laboratory whether these would explain partially or fully these patients phenotype.

Created: 4 Jun 2018, 1:33 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice