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BabyScreen+ newborn screening

Gene: ASS1

Green List (high evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.

Range of age of onset reported from infancy to adulthood.

Non-genetic confirmatory testing: plasma amino acid analysis

Treatment: protein restriction, sodium phenylbutyrate, Ravicti, L-carnitine, Liver transplantation
Created: 26 Sep 2022, 6:32 a.m. | Last Modified: 26 Sep 2022, 6:32 a.m.
Panel Version: 0.199

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Citrullinaemia MIM#215700

John Christodoulou (Murdoch Children's Research Institute)

Green List (high evidence)

this is part of the VCGS newborn screening panel
Created: 26 Sep 2022, 1:54 a.m. | Last Modified: 26 Sep 2022, 1:54 a.m.
Panel Version: 0.199

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category A gene
  • BeginNGS
Phenotypes
  • Citrullinaemia, MIM#215700
Tags
treatable metabolic
OMIM
603470
Clinvar variants
Variants in ASS1
Penetrance
None
Panels with this gene

History Filter Activity

23 Dec 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag metabolic tag was added to gene: ASS1.

26 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

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 Sep 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ASS1 were changed from Citrullinemia, MIM#215700 to Citrullinaemia, MIM#215700

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ASS1 was added gene: ASS1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ASS1 were set to Citrullinemia, MIM#215700