Hereditary spastic paraplegia - childhood onset

Gene: GLRX5

No list

GLRX5 (glutaredoxin 5)
EnsemblGeneIds (GRCh38): ENSG00000182512
EnsemblGeneIds (GRCh37): ENSG00000182512
OMIM: 609588, Gene2Phenotype
GLRX5 is in 12 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Spasticity is a key presenting feature of this condition.
Sources: Expert list
Created: 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

History Filter Activity

19 Sep 2020, Gel status: 0

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