Dilated cardiomyopathy - adult and teen

Gene: SPEG

Amber List (moderate evidence)

SPEG (SPEG complex locus)
EnsemblGeneIds (GRCh38): ENSG00000072195
EnsemblGeneIds (GRCh37): ENSG00000072195
OMIM: 615950, Gene2Phenotype
SPEG is in 9 panels

2 reviews

Ivone Leong (Genomics England Curator)

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

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Reports of early onset isolated DCM, as well as cardiomyopathy in the context of skeletal myopathy.
Sources: Literature
Created: 10 May 2021, 10:37 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dilated cardiomyopathy; centronuclear myopathy

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Dilated cardiomyopathy, MONDO:0005021
  • Centronuclear myopathy 5, OMIM:615959
Tags
Q2_21_rating
OMIM
615950
Clinvar variants
Variants in SPEG
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 May 2021, Gel status: 2

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

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