Peroxisomal disorders

Gene: AMACR

Green List (high evidence)

AMACR (alpha-methylacyl-CoA racemase)
EnsemblGeneIds (GRCh38): ENSG00000242110
EnsemblGeneIds (GRCh37): ENSG00000242110
OMIM: 604489, Gene2Phenotype
AMACR is in 6 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. One variant reported in at least six unrelated individuals
Created: 22 Aug 2016, 9:34 a.m.
Comment on phenotypes: Also associated with Bile acid synthesis defect, congenital, 4 214950
Created: 22 Aug 2016, 9:24 a.m.

Helen Savage (Congenica Ltd)

Green List (high evidence)

Common mutation p.Ser52Pro.
Created: 23 Feb 2016, 2:43 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Alpha-methylacyl-CoA racemase deficiency

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Alpha-methylacyl-CoA racemase deficiency 614307
OMIM
604489
Clinvar variants
Variants in AMACR
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Oct 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 3rd October 2016

22 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

22 Aug 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for AMACR were set to Alpha-methylacyl-CoA racemase deficiency 614307

22 Aug 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for AMACR were set to 15249642; 18032455; 20821052; 10655068

22 Aug 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

AMACR was added to Peroxisomal disorderspanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

19 Aug 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

AMACR was created by sleigh

19 Aug 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

AMACR was added to Peroxisomal disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services