ASS1

argininosuccinate synthase 1
OMIM: 603470, ClinGen, DECIPHER

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green ASS1 in Mendeliome Version 1.3795	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Citrullinemia MIM#215700 Urea cycle disorders and inherited hyperammonaemias disorder of amino acid metabolism Tags treatable
Green ASS1 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.600	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green ASS1 in Additional findings_Adult Level 2: Screening Version 1.130	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Citrullinaemia MIM#215700
Green ASS1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.497	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Citrullinemia MIM#215700 Tags treatable
Green ASS1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.111	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Citrullinemia, 215700 (3)
Green ASS1 in Stroke Level 2: Neurology and neurodevelopmental disorders Version 1.38	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Royal Melbourne Hospital Phenotypes Citrullinemia, MIM# 215700 Tags treatable
Green ASS1 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Citrullinemia
Green ASS1 in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 1.59 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 review	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
Green ASS1 in Hyperammonaemia Level 2: Metabolic disorders Version 0.10 Component of the following Super Panels: Metabolic Disorders Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp NHS GMS Phenotypes Citrullinemia 215700 Tags treatable
Red ASS1 in Fetal anomalies Version 1.481	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Citrullinemia, MIM# 215700
Green ASS1 in Prepair 1000+ Level 2: Screening Version 2.15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Citrullinaemia MIM# 215700
Green ASS1 in Aminoacidopathy Level 2: Metabolic disorders Version 1.138 Component of the following Super Panels: Metabolic Disorders Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes citrullinemia type I MONDO:0008988
Green ASS1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.141	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Citrullinaemia, MIM#215700 Tags treatable metabolic
Green ASS1 in Prepair 500+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Citrullinaemia (MIM# 215700)