Hereditary spastic paraplegia - childhood onset

Gene: GLRX5

Amber List (moderate evidence)

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

2 reviews

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)

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

24 May 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: GLRX5.

24 May 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

24 May 2021, Gel status: 0

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

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