Genomics England
GMS Panels
Panels
Genes and Entities

PPP1R13L

protein phosphatase 1 regulatory subunit 13 like
OMIM: 607463
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PPP1R13L-related dilated cardiomyopathy
Green
in Ectodermal dysplasia
R-numbers: R163
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities, OMIM:620519
Green
in Paediatric or syndromic cardiomyopathy
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R135
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities, OMIM:620519