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Cardiomyopathies - including childhood onset

Gene: PPP1R13L

Green List (high evidence)

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

2 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16

Rebecca Whittington (South West GLH)

Green List (high evidence)

No phenotype on OMIM
Created: 25 Mar 2019, 4:30 p.m.
Mouse model showed progressive DCM (Herron 2005 Hum Mol Genet. 2005 Mar 1;14(5):667-77). HGMD: 2017 paper: Falik-Zaccai (2017) EMBO Mol Med 9, 319 - reported five Arab Christian infants, aged 430 months from four families, were diagnosed with DCM associated with mild skin, teeth, and hair abnormalities. All passed away before age 3 and were homozygous for the same nonsense variant in this gene. Patients fibroblasts and PPP1R13L-knocked down human fibroblasts presented higher expression levels of pro-inflammatory cytokine genes in response to lipopolysaccharide, as well as Ppp1r13l-knocked down murine cardiomyocytes and hearts of Ppp1r13l-deficient mice.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • South West GLH
  • Expert Review Green
Phenotypes
  • sudden cardiac death
  • cardio-cutaneous syndrome
OMIM
607463
Clinvar variants
Variants in PPP1R13L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PPP1R13L.

4 Sep 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: PPP1R13L was added gene: PPP1R13L was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH Mode of inheritance for gene: PPP1R13L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPP1R13L were set to 15661756; 28864777; 19016676; 28069640; 25691752 Phenotypes for gene: PPP1R13L were set to sudden cardiac death; cardio-cutaneous syndrome