Hereditary Spastic Paraplegia - paediatric
Gene: GLRX5
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
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
Gene: glrx5 has been classified as Green List (High Evidence).
Gene: glrx5 has been classified as Green List (High Evidence).
Gene: glrx5 has been classified as Amber List (Moderate Evidence).
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