Dilated Cardiomyopathy and conduction defects

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

Rebecca Whittington (South West GLH)

Red List (low evidence)

Fabry disease OMIM# 301500; Fabry disease, cardiac variant OMIM#301500
Created: 25 Mar 2019, 4:30 p.m.
HCM phenocopy
Created: 25 Mar 2019, 4:27 p.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)

Variants in this GENE are reported as part of current diagnostic practice

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Red List (low evidence)

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to GLA. Mode of inheritance for gene GLA was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

17 Aug 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

GLA was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Oxford Medical Genetics Laboratory

17 Aug 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

GLA was created by ellenmcdonagh