PPP1R13L

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

6 panels

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

Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders
Version 1.16

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


Level 2: Dermatology
Version 4.23
Latest signed off version: v4.0 (30 Apr 2025)

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

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 1.97

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
Red PPP1R13L in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities, OMIM:620519
Green PPP1R13L in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

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


    Level 2: Cardiology
    Version 7.96
    Latest signed off version: v7.0 (30 Apr 2025)

    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