Dilated Cardiomyopathy and conduction defectsGene: SPEG
Comment on list classification: Promoted from Amber to Green as per my previous review.
Created: 12 May 2021, 2:07 p.m. | Last Modified: 12 May 2021, 2:07 p.m.
Panel Version: 1.70
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. DCM is are reported in some of the reported cases (>3 cases). This gene has enough evidence to support a gene-disease association. This gene should be Green at the next review.
Created: 12 May 2021, 2:03 p.m. | Last Modified: 12 May 2021, 2:03 p.m.
Panel Version: 1.42
Reports of early onset isolated DCM, as well as cardiomyopathy in the context of skeletal myopathy.
Created: 10 May 2021, 10:37 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Dilated cardiomyopathy; centronuclear myopathy
Gene: speg has been classified as Green List (High Evidence).
Tag Q2_21_rating was removed from gene: SPEG.
gene: SPEG was added gene: SPEG was added to Dilated Cardiomyopathy and conduction defects. Sources: Literature,Expert Review Amber Q2_21_rating tags were added to gene: SPEG. Mode of inheritance for gene: SPEG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPEG were set to 32925938; 33794647; 33926407 Phenotypes for gene: SPEG were set to Dilated cardiomyopathy, MONDO:0005021; Centronuclear myopathy 5, OMIM:615959