Miscellaneous Metabolic Disorders

Gene: ASS1

Green List (high evidence)

ASS1 (argininosuccinate synthase 1)
EnsemblGeneIds (GRCh38): ENSG00000130707
EnsemblGeneIds (GRCh37): ENSG00000130707
OMIM: 603470, Gene2Phenotype
ASS1 is in 13 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Biallelic variants cause an inborn error of amino acid metabolism. Well-established gene-disease association (see OMIM entry).
Sources: NHS GMS
Created: 26 Jan 2021, 9:50 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Citrullinemia MIM#215700; Urea cycle disorders and inherited hyperammonaemias; disorder of amino acid metabolism

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Citrullinemia MIM#215700
  • Urea cycle disorders and inherited hyperammonaemias
  • disorder of amino acid metabolism
Tags
treatable
OMIM
603470
Clinvar variants
Variants in ASS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Sep 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: ASS1.

26 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ass1 has been classified as Green List (High Evidence).

26 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ass1 has been classified as Green List (High Evidence).

26 Jan 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ASS1 was added gene: ASS1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASS1 were set to 19006241 Phenotypes for gene: ASS1 were set to Citrullinemia MIM#215700; Urea cycle disorders and inherited hyperammonaemias; disorder of amino acid metabolism Review for gene: ASS1 was set to GREEN gene: ASS1 was marked as current diagnostic