Mucopolysaccharideosis, Gaucher, Fabry

Gene: GLA

Green List (high evidence)

GLA (galactosidase alpha)
EnsemblGeneIds (GRCh38): ENSG00000102393
EnsemblGeneIds (GRCh37): ENSG00000102393
OMIM: 300644, Gene2Phenotype
GLA is in 27 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: Green gene with a green review, and verified on OMIM for disease association and mode of inheritance.
Created: 29 Feb 2016, 5:55 p.m.

Helen Savage (Congenica Ltd)

Green List (high 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
Fabry disease

History Filter Activity

29 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

3 Aug 2015, Gel status: 4

Added New Source

Eik Haraldsdottir (Genomics England)

GLA was added to Mucopolysaccharideosis, Gaucher, Fabrypanel. Sources: UKGTN

3 Aug 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

GLA was added to Mucopolysaccharideosis, Gaucher, Fabrypanel. Sources: Emory Genetics Laboratory

3 Aug 2015, Gel status: 2

Set Mode of Inheritance

Eik Haraldsdottir (Genomics England)

Model of inheritance for gene GLA was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females

3 Aug 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

GLA was added to Mucopolysaccharideosis, Gaucher, Fabrypanel. Sources: Illumina TruGenome Clinical Sequencing Services

3 Aug 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

GLA was added to Mucopolysaccharideosis, Gaucher, Fabrypanel. Sources: Radboud University Medical Center, Nijmegen