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This Panel is marked as Internal

Newborns main panel
Gene: AMACR

AMACR (alpha-methylacyl-CoA racemase)
EnsemblGeneIds (GRCh38): ENSG00000242110
EnsemblGeneIds (GRCh37): ENSG00000242110
OMIM: 604489, Gene2Phenotype
AMACR is in 10 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.

Panel Version: 0.137

9 patients across 9 publications have been reported with the same homozygous missense variant, Ser52Pro (PMIDs: 10655068, 12512044, 21686617, 21576695, 20821052, 15249642, 33047465, PMID: 34621847). A few other missense variants have also been reported (PMID: 10655068, 20921516, 23286897, 34267495). A deletion encompassing 5 genes including AMACR is reported in a patient with oculocutaneous albinism and AMACR deficiency (PMID: 22987308).
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.134

Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Bile acid synthesis defect, congenital, 4

OMIM

Clinvar variants

Variants in AMACR

Penetrance

None

Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Bile acid synthesis defect, congenital, 4 for gene: AMACR

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to AMACR. Added phenotypes Bile acid synthesis defect, congenital, 4 for gene: AMACR Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to AMACR. Added phenotypes Bile acid synthesis defect, congenital, 4 for gene: AMACR Rating Changed from No List (delete) to Amber List (moderate evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to AMACR. Rating Changed from Amber List (moderate evidence) to No List (delete)

9 Mar 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Bile acid synthesis defect, congenital, 4 for gene: AMACR

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: AMACR was added gene: AMACR was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal