Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Dilated Cardiomyopathy and conduction defects v1.55 GATAD1 Rebecca Whittington commented on gene: GATAD1: ?Cardiomyopathy, dilated, 2B OMIM#614672
Dilated Cardiomyopathy and conduction defects v1.54 GATAD1 Rebecca Whittington commented on gene: GATAD1: On the Inherited Cardiac Condition Genes panel for Dilated cardiomyopathy reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10._1007/_s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 1. HGMD: only one variant - AR disease: Theis (2011) Circ Cardiovasc Genet 4: 585 PubMed: 21965549 Summary: 1 piece of literature with one homozygote variant - two affected individuals and consanguenious family. Functional studies undertaken.
Dilated Cardiomyopathy and conduction defects v1.53 GATAD1 Rebecca Whittington reviewed gene: GATAD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.47 GATAD1 Ellen McDonagh Source South West GLH was added to GATAD1.
Mode of inheritance for gene GATAD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Dilated Cardiomyopathy and conduction defects v1.46 GATAD1 Ellen McDonagh edited their review of gene: GATAD1: Added comment: 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.; Changed rating: AMBER
Dilated Cardiomyopathy and conduction defects v1.45 GATAD1 Ellen McDonagh Source London South GLH was added to GATAD1.