Sudden death in young people

Gene: PPP1R13L

This gene is not currently associated with a disease in OMIM or Gene2Phenotype.

Created: 1 Nov 2018, 3:44 p.m.

PMID: 28069640 describes a large extended family pedigree, with 5 affected infants with Dilated cardiomyopathy who all died before the age of 3. A SNP predicted to cause a premature termination codon was identified c.2241C > G, p.Tyr747Ter in 3 affected patients as homozygous status and heterozygous in the patients. Sequencing was unavailable for two affected sisters. There is also evidence in animals - deficient mice die suddenly of cardiac death (PMID: 25691752), and in 13 Poll Hereford cattle with Cardiomyopathy and woolly haircoat syndrome (a lethal autosomal recessive disorder) a frameshift variant was identified, predicted to cause a premature stop codon.

Created: 1 Nov 2018, 3:21 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
cardio-cutaneous syndrome; sudden cardiac death

Publications

• 28069640
• 25691752
• 19016676