Neonatal cholestasis

Gene: AMACR

Amber List (moderate evidence)

AMACR (alpha-methylacyl-CoA racemase)
EnsemblGeneIds (GRCh38): ENSG00000242110
EnsemblGeneIds (GRCh37): ENSG00000242110
OMIM: 604489, Gene2Phenotype
AMACR is in 6 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 disorders
Created: 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 OMIM
Created: 25 Jul 2018, 3:49 p.m.
Comment on publications: Publications related to cases
Created: 25 Jul 2018, 3:48 p.m.
Comment on mode of inheritance: MOI reported in OMIM
Created: 25 Jul 2018, 3:47 p.m.
Comment on list classification: 2 cases reported associated with Bile acid synthesis defect, congenital, 4
Created: 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)

I don't know

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

3 Sep 2018, Gel status: 2

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been subjected to extensive internal and external review.

21 Aug 2018, Gel status: 2

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: AMACR was changed from to BIALLELIC, autosomal or pseudoautosomal

25 Jul 2018, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: amacr has been classified as Amber List (Moderate Evidence).

25 Jul 2018, Gel status: 2

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

25 Jul 2018, Gel status: 2

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: AMACR were set to 10655068; 12512044

25 Jul 2018, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: amacr has been classified as Amber List (Moderate Evidence).

21 Jun 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to AMACR. Panel: Cholestasis

18 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

AMACR was added to Cholestasis panel. Sources: Emory Genetics Laboratory

18 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

AMACR was created by Ellen McDonagh