Neonatal cholestasis
Gene: AMACRAMACR is on the King's College Hospital NHS Foundation Trust diagnostic cholestasis gene panel for Bile acid synthesis disordersCreated: 25 Jul 2018, 4:28 p.m.
Comment when marking as ready: Currently only 2 cases reported to date so rating as Amber.Created: 25 Jul 2018, 3:50 p.m.
Comment on phenotypes: Added phenotypes from OMIMCreated: 25 Jul 2018, 3:49 p.m.
Comment on publications: Publications related to casesCreated: 25 Jul 2018, 3:48 p.m.
Comment on mode of inheritance: MOI reported in OMIMCreated: 25 Jul 2018, 3:47 p.m.
Comment on list classification: 2 cases reported associated with Bile acid synthesis defect, congenital, 4Created: 25 Jul 2018, 3:46 p.m.
In OMIM this gene is associated with Bile acid synthesis defect, congenital, 4 which has Intrahepatic cholestasis and Neonatal onset listed as clinical features. OMIM reports two publications reporting cases: In a child with a defect in bile acid synthesis (CBAS4), Ferdinandusse et al. (2000) (PMID: 10655068) identified a homozygous mutation in the AMACR gene (LEU107PRO). Functional expression studies of the mutation in E. coli showed complete absence of enzyme activity. In an infant with a defect in bile acid synthesis, Setchell et al. (2003)(PMID: 12512044) identified a homozygous mutation in the AMACR gene (S52P). No data in Gene2Phenotype. No other cases of SNV reported in Clinvar. No other relevant publications found from PubMed search.Created: 25 Jul 2018, 3:45 p.m.
Phenotypes
cholangiopathy
This panel has been subjected to extensive internal and external review.
Mode of inheritance for gene: AMACR was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: amacr has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: AMACR were set to Neonatal and Adult Cholestasis; Bile acid synthesis defect, congenital, 4 214950
Publications for gene: AMACR were set to 10655068; 12512044
Gene: amacr has been classified as Amber List (Moderate Evidence).
Victorian Clinical Genetics Services was added to AMACR. Panel: Cholestasis
AMACR was added to Cholestasis panel. Sources: Emory Genetics Laboratory
AMACR was created by Ellen McDonagh