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Aminoacidopathy

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

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Classified Definitive by ClinGen Aminoacidopathy GCEP on 27/12/2018 - https://search.clinicalgenome.org/CCID:004190

Well-established gene-disease association. Reported individuals present with inborn error of argininosuccinate synthetase metabolism.
Sources: ClinGen
Created: 23 May 2024, 5:13 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
citrullinemia type I MONDO:0008988

Publications

Created: 23 May 2024, 5:13 a.m.

Panel version: 1.18

History Filter Activity

24 May 2024, 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).

24 May 2024, 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).

23 May 2024, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: ASS1 was added gene: ASS1 was added to Aminoacidopathy. Sources: ClinGen 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 type I MONDO:0008988 Review for gene: ASS1 was set to GREEN