Hereditary Spastic Paraplegia - paediatric
Gene: GLRX5EnsemblGeneIds (GRCh38): ENSG00000182512
EnsemblGeneIds (GRCh37): ENSG00000182512
OMIM: 609588, Gene2Phenotype
GLRX5 is in 8 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Spasticity is a key presenting feature.Created: 6 Jul 2020, 4:41 a.m. | Last Modified: 6 Jul 2020, 4:41 a.m.
Panel Version: 0.110
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spasticity, childhood-onset, with hyperglycinemia, MIM# 616859
Elena Savva (Victorian Clinical Genetics Services)
PMID: 24334290 - 3 patients (3 families) with non-ketotic hyperglycinemia, supported by functional studies. Patients had normal development with childhood-onset spastic paraplegia (3/3), spinal lesion (1/3), optic atrophy (1/3) and brain signal abnormalities involving the frontal and parietal white matter (2/3)
PMID: 30770271 - 1 patient with childhood onset cavitating leukoencephalopathy.
p.Lys51del is a recurring mutation.
Sources: Expert listCreated: 6 Jul 2020, 2:23 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spasticity, childhood-onset, with hyperglycinemia 616859
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Spasticity, childhood-onset, with hyperglycinemia 616859
- OMIM
- 609588
- Clinvar variants
- Variants in GLRX5
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: glrx5 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: glrx5 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: glrx5 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Elena Savva (Victorian Clinical Genetics Services)gene: GLRX5 was added gene: GLRX5 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list Mode of inheritance for gene: GLRX5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLRX5 were set to PMID: 24334290; 30770271 Phenotypes for gene: GLRX5 were set to Spasticity, childhood-onset, with hyperglycinemia 616859 Review for gene: GLRX5 was set to AMBER