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STRs in panel
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Inborn errors of metabolism

Gene: ASS1

Green List (high evidence)

ASS1 (argininosuccinate synthase 1)
EnsemblGeneIds (GRCh38): ENSG00000130707
EnsemblGeneIds (GRCh37): ENSG00000130707
OMIM: 603470, Gene2Phenotype
ASS1 is in 7 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Citrullinaemia type1 (Urea cycle disorders and inherited hyperammonaemias)
  • Citrullinemia
OMIM
603470
Clinvar variants
Variants in ASS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ASS1. Source London North GLH was added to ASS1.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: ASS1 was added gene: ASS1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASS1 were set to 27604308 Phenotypes for gene: ASS1 were set to Citrullinaemia type1 (Urea cycle disorders and inherited hyperammonaemias); Citrullinemia