Paediatric or syndromic cardiomyopathy
Gene: SPEGThe rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 1:12 p.m. | Last Modified: 3 Mar 2022, 1:12 p.m.
Panel Version: 1.65
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.
Source Expert Review Green was added to SPEG. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_21_rating tag was added to gene: SPEG.
Gene: speg has been classified as Amber List (Moderate Evidence).
Publications for gene: SPEG were set to 32925938; 33794647
Phenotypes for gene: SPEG were changed from Dilated cardiomyopathy; centronuclear myopathy to Dilated cardiomyopathy, MONDO:0005021; Centronuclear myopathy 5, OMIM:615959
gene: SPEG was added gene: SPEG was added to Cardiomyopathies - including childhood onset. Sources: Literature Mode of inheritance for gene: SPEG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPEG were set to 32925938; 33794647 Phenotypes for gene: SPEG were set to Dilated cardiomyopathy; centronuclear myopathy Review for gene: SPEG was set to GREEN