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  3. ARG1
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Hyperammonaemia

Gene: ARG1

Green List (high evidence)
ARG1 (arginase 1)
EnsemblGeneIds (GRCh38): ENSG00000118520
EnsemblGeneIds (GRCh37): ENSG00000118520
OMIM: 608313, Gene2Phenotype
ARG1 is in 16 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Biallelic variants cause an inborn error of of arginine metabolism. Well-established gene-disease association (see OMIM entry).
Sources: NHS GMS
Created: 26 Jan 2021, 6:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Argininemia MIM#207800; Urea cycle disorders and inherited hyperammonaemias; disorder of arginine metabolism

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 26 Jan 2021, 6:52 a.m.

Panel version: Imported from Mendeliome panel version Imported from Miscellaneous Metabolic Disorders panel version 0.51

History Filter Activity

5 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: ARG1.

29 Jan 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ARG1 was added gene: ARG1 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARG1 were set to Argininemia 207800