Sudden death in young people

Gene: PPP1R13L

Red List (low evidence)

PPP1R13L (protein phosphatase 1 regulatory subunit 13 like)
EnsemblGeneIds (GRCh38): ENSG00000104881
EnsemblGeneIds (GRCh37): ENSG00000104881
OMIM: 607463, Gene2Phenotype
PPP1R13L is in 3 panels

1 review

Ellen McDonagh (Genomics England Curator)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • cardio-cutaneous syndrome
  • sudden cardiac death
Tags
watchlist
OMIM
607463
Clinvar variants
Variants in PPP1R13L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Nov 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: PPP1R13L was added gene: PPP1R13L was added to Sudden death in young people. Sources: Literature watchlist tags were added to gene: PPP1R13L. Mode of inheritance for gene: PPP1R13L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPP1R13L were set to 28069640; 25691752; 19016676 Phenotypes for gene: PPP1R13L were set to cardio-cutaneous syndrome; sudden cardiac death