Paediatric or syndromic cardiomyopathy

Gene: SPEG

The 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

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

• 32925938
• 33794647