Aminoacidopathy
Gene: ARG1EnsemblGeneIds (GRCh38): ENSG00000118520
EnsemblGeneIds (GRCh37): ENSG00000118520
OMIM: 608313, Gene2Phenotype
ARG1 is in 16 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Classified Definitive by ClinGen Aminoacidopathy GCEP on 29/06/2020 - https://search.clinicalgenome.org/CCID:004163
Reported in >5 unrelated probands with manifestations of hyperammonemia and hyperargininemia. It is an inborn error of L-arginine metabolism.
Two knock out mouse models have been conducted attesting to the LoF mechanism of disease.
Sources: ClinGenCreated: 23 May 2024, 12:40 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
hyperargininemia MONDO:0008814
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- hyperargininemia MONDO:0008814
- OMIM
- 608313
- Clinvar variants
- Variants in ARG1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Miscellaneous Metabolic Disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Cholestasis
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Regression
- Aminoacidopathy
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Hyperammonaemia
- Prepair 500+
- Hereditary Spastic Paraplegia - paediatric
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: arg1 has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ARG1 were set to 16747805, 23859858, 1463019, 1598908, 12052859, 23920045
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: arg1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: ARG1 was added gene: ARG1 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARG1 were set to 16747805, 23859858, 1463019, 1598908, 12052859, 23920045 Phenotypes for gene: ARG1 were set to hyperargininemia MONDO:0008814 Review for gene: ARG1 was set to GREEN