Dilated and arrhythmogenic cardiomyopathy
Gene: SPEG
After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber.Created: 30 Jan 2023, 2:04 p.m. | Last Modified: 30 Jan 2023, 2:04 p.m.
Panel Version: 2.4
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.
Sources: LiteratureCreated: 10 May 2021, 10:37 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dilated cardiomyopathy; centronuclear myopathy
Publications
Tag Q2_21_rating was removed from gene: SPEG.
gene: SPEG was added gene: SPEG was added to Dilated cardiomyopathy - adult and teen. 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