Hereditary Spastic Paraplegia - paediatric

Gene: GLRX5

Green List (high evidence)

GLRX5 (glutaredoxin 5)
EnsemblGeneIds (GRCh38): ENSG00000182512
EnsemblGeneIds (GRCh37): ENSG00000182512
OMIM: 609588, Gene2Phenotype
GLRX5 is in 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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)

I don't know

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 list
Created: 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

6 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: glrx5 has been classified as Green List (High Evidence).

6 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: glrx5 has been classified as Green List (High Evidence).

6 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: glrx5 has been classified as Amber List (Moderate Evidence).

6 Jul 2020, Gel status: 0

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