Fetal anomalies
Gene: ASS1

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

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green.
Created: 18 Apr 2019, 11:28 a.m.

DDG2P rating in original PAGE list: Confirmed for CITRULLINEMIA TYPE I
Created: 11 Dec 2018, 9:04 a.m.

Created: 11 Dec 2018, 9:04 a.m.

Panel version: 0.166

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

PAGE DD-Gene2Phenotype
Expert Review Green

Phenotypes

CITRULLINEMIA TYPE I

OMIM

603470

Clinvar variants

Variants in ASS1

Penetrance

None

Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: ASS1 was added gene: ASS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ASS1 were set to CITRULLINEMIA TYPE I

Fetal anomalies Gene: ASS1