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  3. AMACR
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Liver Failure_Paediatric

Gene: AMACR

Green List (high evidence)
AMACR (alpha-methylacyl-CoA racemase)
EnsemblGeneIds (GRCh38): ENSG00000242110
EnsemblGeneIds (GRCh37): ENSG00000242110
OMIM: 604489, Gene2Phenotype
AMACR is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Intrahepatic cholestasis and liver failure in infancy, at least three families and mouse model.
Sources: Expert list
Created: 3 Nov 2020, 8:05 a.m. | Last Modified: 3 Nov 2020, 8:05 a.m.
Panel Version: 0.94

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bile acid synthesis defect, congenital, 4, MIM# 214950

Publications

Created: 3 Nov 2020, 8:05 a.m.
Last Modified: 3 Nov 2020, 8:05 a.m.
Panel version: 0.93

History Filter Activity

3 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: amacr has been classified as Green List (High Evidence).

3 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: amacr has been classified as Green List (High Evidence).

3 Nov 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AMACR was added gene: AMACR was added to Liver Failure_Paediatric. Sources: Expert list Mode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMACR were set to 31951345; 24735479; 12512044; 10655068 Phenotypes for gene: AMACR were set to Bile acid synthesis defect, congenital, 4, MIM# 214950 Review for gene: AMACR was set to GREEN