Childhood onset hereditary spastic paraplegia
Gene: GLRX5EnsemblGeneIds (GRCh38): ENSG00000182512
EnsemblGeneIds (GRCh37): ENSG00000182512
OMIM: 609588, Gene2Phenotype
GLRX5 is in 11 panels
3 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.Created: 14 Mar 2022, 1:30 p.m. | Last Modified: 14 Mar 2022, 1:30 p.m.
Panel Version: 2.130
Ivone Leong (Genomics England Curator)
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and not Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be Green at the next review.Created: 24 May 2021, 12:32 p.m. | Last Modified: 24 May 2021, 12:32 p.m.
Panel Version: 2.38
Zornitza Stark (Australian Genomics)
Spasticity is a key presenting feature of this condition.
Sources: Expert listCreated: 19 Sep 2020, 7:28 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spasticity, childhood-onset, with hyperglycinemia 616859
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Spasticity, childhood-onset, with hyperglycinemia, OMIM:616859
- OMIM
- 609588
- Clinvar variants
- Variants in GLRX5
- Penetrance
- None
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
- Pyruvate dehydrogenase (PDH) deficiency
- Likely inborn error of metabolism
- Cytopenias and congenital anaemias
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- Rare anaemia
- Iron metabolism disorders - NOT common HFE mutations
History Filter Activity
Removed Tag
Ivone Leong (Genomics England Curator)Tag Q2_21_rating was removed from gene: GLRX5.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to GLRX5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Ivone Leong (Genomics England Curator)Tag Q2_21_rating tag was added to gene: GLRX5.
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: glrx5 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: GLRX5 were changed from Spasticity, childhood-onset, with hyperglycinemia 616859 to Spasticity, childhood-onset, with hyperglycinemia, OMIM:616859
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: GLRX5 was added gene: GLRX5 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list Mode of inheritance for gene: GLRX5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLRX5 were set to 24334290; 30770271 Phenotypes for gene: GLRX5 were set to Spasticity, childhood-onset, with hyperglycinemia 616859 Review for gene: GLRX5 was set to GREEN gene: GLRX5 was marked as current diagnostic