Pain syndromes

Gene: GLA

Green List (high evidence)

GLA (galactosidase alpha)
EnsemblGeneIds (GRCh38): ENSG00000102393
EnsemblGeneIds (GRCh37): ENSG00000102393
OMIM: 300644, Gene2Phenotype
GLA is in 26 panels

1 review

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Comment from expert (Dave Bennett): Other features such as renal disease/CVA not always present especially in women and can present as a familial small fibre neuropathy
Created: 19 Sep 2017, 10:10 a.m.
Comment when marking as ready: Marked as green following Dave Bennett's comments
Created: 19 Sep 2017, 10:04 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Fabry disease 301500

History Filter Activity

19 Sep 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

19th September 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.

19 Sep 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for GLA were set to Fabry disease, 301500

19 Sep 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Sep 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Sep 2017, Gel status: 0

Created

Arianna Tucci (Genomics England Curator)

GLA was created by arianna

19 Sep 2017, Gel status: 0

Added New Source

Arianna Tucci (Genomics England Curator)

GLA was added to Pain syndromespanel. Sources: Expert list