Neonatal cholestasis
Gene: AMACREnsemblGeneIds (GRCh38): ENSG00000242110
EnsemblGeneIds (GRCh37): ENSG00000242110
OMIM: 604489, Gene2Phenotype
AMACR is in 9 panels
3 reviews
Louise Daugherty (Genomics England Curator)
AMACR 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.
Eleanor Williams (Genomics England Curator)
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.
Jane Hartley (Birmingham Women and Children's Hospital)
Phenotypes
cholangiopathy
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Victorian Clinical Genetics Services
- Emory Genetics Laboratory
- Phenotypes
-
- Neonatal and Adult Cholestasis
- Bile acid synthesis defect, congenital, 4 214950
- OMIM
- 604489
- Clinvar variants
- Variants in AMACR
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Panel promoted to version 1.0
Sarah Leigh (Genomics England Curator)This panel has been subjected to extensive internal and external review.
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: AMACR was changed from to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: amacr has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: AMACR were set to Neonatal and Adult Cholestasis; Bile acid synthesis defect, congenital, 4 214950
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: AMACR were set to 10655068; 12512044
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: amacr has been classified as Amber List (Moderate Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)Victorian Clinical Genetics Services was added to AMACR. Panel: Cholestasis
Added New Source
Ellen McDonagh (Genomics England Curator)AMACR was added to Cholestasis panel. Sources: Emory Genetics Laboratory
Created
Ellen McDonagh (Genomics England Curator)AMACR was created by Ellen McDonagh