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ARG1

arginase 1
OMIM: 608313, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green ARG1 in Hyperammonaemia Level 3: Urea Cycle disorders Level 2: Metabolic disorders Version 1.22	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Argininemia, OMIM:207800
Red ARG1 in Neonatal cholestasis Level 3: Liver disease Level 2: Gastroenterological disorders Version 1.29	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Argininemia, OMIM:207800
Green ARG1 in Hereditary spastic paraplegia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.316	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Argininemia, OMIM:207800
Green ARG1 in Hereditary spastic paraplegia, childhood onset Level 2: Neurology Version 9.7 Latest signed off version: v9.0 (6 May 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Literature Phenotypes Argininemia, OMIM:207800
Amber ARG1 in Hereditary spastic paraplegia, adult onset Level 2: Neurology Version 6.13 Latest signed off version: v6.10 (6 May 2026) Component of the following Super Panels: Adult-onset neurological disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Progressive spastic tetraplegia Argininaemia, 207800
Red ARG1 in Neurodegenerative disorders, adult onset Level 2: Neurology Version 9.4 Latest signed off version: v9.0 (6 May 2026) Component of the following Super Panels: Adult-onset neurological disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert list Phenotypes Argininemia, OMIM:207800
Green ARG1 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.645	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Argininaemia (Urea cycle disorders and inherited hyperammonaemias) Argininemia, OMIM:207800
Green ARG1 in Likely inborn error of metabolism Level 2: Metabolic Version 9.29 Latest signed off version: v9.0 (6 May 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Argininaemia (Urea cycle disorders and inherited hyperammonaemias) Argininemia, OMIM:207800
Red ARG1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 7.33 Latest signed off version: v7.0 (6 May 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes ARGININEMIA
Green ARG1 in DDG2P Version 7.8 Latest signed off version: v7.0 (6 May 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ARGININEMIA 207800
Green ARG1 in Early onset or syndromic epilepsy Level 2: Neurology Version 9.56 Latest signed off version: v9.0 (6 May 2026) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Literature Phenotypes Argininemia, OMIM:207800
Green ARG1 in Intellectual disability Level 2: Developmental disorders Version 10.98 Latest signed off version: v10.0 (6 May 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Argininemia, OMIM:207800
Red ARG1 in Dystonia, chorea or related movement disorder, childhood onset Level 2: Neurology Version 8.13 Latest signed off version: v8.0 (6 May 2026)	review	Not set	Sources Expert Review Red London North GLH