Hypertrophic cardiomyopathy
Gene: GLA
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.Created: 2 Dec 2019, 11:26 a.m. | Last Modified: 2 Dec 2019, 11:26 a.m.
Panel Version: 1.81
Comment on mode of inheritance: MOI was corrected.Created: 30 Sep 2019, 12:27 p.m. | Last Modified: 30 Sep 2019, 12:27 p.m.
Panel Version: 1.75
Fabry disease (301500)Created: 25 Mar 2019, 4:30 p.m.
HCM phenocopy - well established geneCreated: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Variants in this GENE are reported as part of current diagnostic practice
Gene on Royal Brompton diagnostic panel, metabolic storage disorder, HCM phenocopyCreated: 20 Mar 2019, 1:55 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)
Phenotypes
Fabry disease, cardiac variant (301500)
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
Gene currently tested on Manchester cardiac gene panel. 966 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: definitive association with Fabry disease, atypical variant phenotype involves HCM (accessed 29/01/2019).Created: 14 Feb 2019, 1:38 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)
Phenotypes
Fabry disease (301500); Fabry disease, cardiac variant (301500)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: On Manchester HCM diagnostic panelCreated: 11 Feb 2016, 3:05 p.m.
Mode of inheritance for gene: GLA was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: GLA were set to 27532257; 28369730
Source South West GLH was added to GLA. Mode of inheritance for gene GLA was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Source London South GLH was added to GLA.
Source North West GLH was added to GLA. Added phenotypes Fabry disease, cardiac variant (301500); Fabry disease (301500) for gene: GLA Publications for gene GLA were changed from to 27532257; 28369730 Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
GLA was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list
Model of inheritance for gene GLA was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
GLA was added to Hypertrophic Cardiomyopathypanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN
Model of inheritance for gene GLA was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
GLA was added to Hypertrophic Cardiomyopathypanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN
GLA was added to Hypertrophic Cardiomyopathypanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN