AMACR

alpha-methylacyl-CoA racemase
OMIM: 604489, ClinGen, DECIPHER

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green AMACR in Cholestasis Level 2: Gastroenterological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bile acid synthesis defect, congenital, 4, MIM# 214950
Green AMACR in Mendeliome Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bile acid synthesis defect, congenital, 4, MIM# 214950 Alpha-methylacyl-CoA racemase deficiency, MIM# 614307
Green AMACR in Peroxisomal Disorders Level 2: Metabolic disorders Version 1.0	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green AMACR in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Literature Phenotypes Alpha-methylacyl-CoA racemase deficiency, MIM# 614307
Green AMACR in Mitochondrial disease Level 2: Metabolic disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Bile acid synthesis defect, congenital, 4, MIM# 214950 Alpha-methylacyl-CoA racemase deficiency, MIM# 614307
Green AMACR in Regression Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green AMACR in Retinitis pigmentosa Level 2: Ophthalmological disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Alpha-methylacyl-CoA racemase deficiency, MIM# 614307
Green AMACR in Hereditary Neuropathy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Alpha-methylacyl-CoA racemase deficiency (MIM#614307) Retinopathy, myelopathy, axonal or SNCV neuropathy, elevated phytanic and pristanic acids
Red AMACR in Rhabdomyolysis and Metabolic Myopathy Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Literature Victorian Clinical Genetics Services Phenotypes rhabdomyolysis
Red AMACR in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Alpha-methylacyl-CoA racemase deficiency Bile acid synthesis defect, congenital, 4
Green AMACR in Liver Failure_Paediatric Level 2: Gastroenterological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Bile acid synthesis defect, congenital, 4, MIM# 214950
Red AMACR in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Bile acid synthesis defect, congenital, 4, MIM# 214950
Green AMACR in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category C gene Phenotypes Bile acid synthesis defect, congenital, 4, MIM# 214950 Tags treatable liver