Neonatal cholestasis
Gene: SERPINA1PMID: 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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
cholestasis, alpha-1-antitrypsin deficiency
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
This panel has been subjected to extensive internal and external review.
Gene: serpina1 has been classified as Red List (Low Evidence).
Gene: serpina1 has been classified as Red List (Low Evidence).
Publications for gene: SERPINA1 were set to 26126923; 26003074; 24750955
Publications for gene: SERPINA1 were set to 26126923
Victorian Clinical Genetics Services was added to SERPINA1. Panel: Cholestasis
UKGTN was added to SERPINA1. Panel: Cholestasis Model of inheritance for gene SERPINA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene SERPINA1 were set to Neonatal and Adult Cholestasis, Alpha-1 Antitrypsin Deficiency
SERPINA1 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
SERPINA1 was created by Ellen McDonagh