Arrhythmogenic right ventricular cardiomyopathy
Gene: TGFB3
Very limited evidence, based on single family. Need more evidence for inclusion hereCreated: 18 Sep 2019, 11:03 p.m. | Last Modified: 18 Sep 2019, 11:03 p.m.
Panel Version: 1.36
Arrhythmogenic right ventricular dysplasia 1 (107970); Loeys-Dietz syndrome 5 (615582)Created: 25 Mar 2019, 4:30 p.m.
On HGMDPro assoc mainly with Loeys-Dietz. ARVD1 OMIM: 107970. Beffagna Cardiovascular Research 65 (2005) 366 373: large ARVC family where index is 11 year old. Variant tracked with disease in a number of family members. Very rare cause of ARVCCreated: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
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.
Source South West GLH was added to TGFB3. Mode of inheritance for gene TGFB3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Source London South GLH was added to TGFB3.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Model of inheritance for gene TGFB3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
TGFB3 was added to Arrhythmogenic Right Ventricular Cardiomyopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list
Model of inheritance for gene TGFB3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
TGFB3 was added to Arrhythmogenic Right Ventricular Cardiomyopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list
TGFB3 was added to Arrhythmogenic Right Ventricular Cardiomyopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list