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Hereditary Spastic Paraplegia - paediatric

Gene: ARG1

Green List (high evidence)
ARG1 (arginase 1)
EnsemblGeneIds (GRCh38): ENSG00000118520
EnsemblGeneIds (GRCh37): ENSG00000118520
OMIM: 608313, Gene2Phenotype
ARG1 is in 16 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Early onset spastic paraplegia is a prominent feature of the condition.
Created: 19 Apr 2020, 8:20 a.m. | Last Modified: 19 Apr 2020, 8:20 a.m.
Panel Version: 0.61

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Argininemia MIM#207800

Publications

Created: 19 Apr 2020, 8:20 a.m.
Last Modified: 19 Apr 2020, 8:20 a.m.
Panel version: 0.61

History Filter Activity

5 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: ARG1.

13 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: arg1 has been classified as Green List (High Evidence).

13 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ARG1 were set to

31 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ARG1 was added gene: ARG1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARG1 were set to Progressive spastic tetraplegia; Argininaemia, 207800