Hyperammonaemia

Gene: GLA

Red List (low evidence)

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

2 reviews

Peter Clayton (UCL Institute of Child Health)

Red List (low evidence)

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
Alpha-galactosidase deficiency, Fabry disease

Ellen McDonagh (Genomics England Curator)

Please note that phenotypes that already existed for this gene panel (viewed under Gene Summary) and Ensembl transcripts were accidently uploaded under Peter Clayton (UCL Institute of Child Health)'s review and were not suggested by him. We are working on a fix in PanelApp to correct this.
Created: 5 Nov 2015, 5:19 p.m.

History Filter Activity

22 Nov 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 on 22nd November 2016

5 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

GLA was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory