PPP1R13L:Ensemblv90

protein phosphatase 1 regulatory subunit 13 like
OMIM: 607463, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green PPP1R13L in Mendeliome


Version 1.3802

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Arrhythmogenic cardiomyopathy with or without ectodermal abnormalities, MIM#620519

Green PPP1R13L in Cardiomyopathy_Paediatric


Level 2: Cardiovascular disorders
Version 0.208

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • South West GLH
  • NHS GMS
Phenotypes
  • Arrhythmogenic cardiomyopathy with or without ectodermal abnormalities, MIM#620519

Green PPP1R13L in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.293

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Arrhythmogenic cardiomyopathy with or without ectodermal abnormalities, MIM#620519

Green PPP1R13L in Fetal anomalies


Version 1.482

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Arrhythmogenic cardiomyopathy with or without ectodermal abnormalities, MIM#620519

Green PPP1R13L in Cardiomyopathy_Paediatric


Level 2: Cardiovascular disorders
Version 1.0

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • South West GLH
  • Expert Review Green
Phenotypes
  • Arrhythmogenic cardiomyopathy with or without ectodermal abnormalities, MIM#620519

Green PPP1R13L in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Arrhythmogenic cardiomyopathy with or without ectodermal abnormalities, MIM#620519

Green PPP1R13L in Fetal anomalies


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Arrhythmogenic cardiomyopathy with or without ectodermal abnormalities, MIM#620519