PPP1R13L

protein phosphatase 1 regulatory subunit 13 like
OMIM: 607463, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Red PPP1R13L in Sudden death in young people

Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders
Version 1.15

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • cardio-cutaneous syndrome
  • sudden cardiac death
Tags
  • watchlist
Amber PPP1R13L in Ectodermal dysplasia


Version 3.29
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities, OMIM:620519
Tags
  • Q4_23_promote_green
Green PPP1R13L in Dilated Cardiomyopathy and conduction defects

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 1.85

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • South West GLH
  • Wessex and West Midlands GLH
  • Expert Review Green
  • Literature
Phenotypes
  • Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities, OMIM:620519
  • cardio-cutaneous syndrome
  • sudden cardiac death
Green PPP1R13L in DDG2P


Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • PPP1R13L-related dilated cardiomyopathy
    Green PPP1R13L in Paediatric or syndromic cardiomyopathy


    Version 3.44
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • South West GLH
    • Expert Review Green
    Phenotypes
    • Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities, OMIM:620519