Genomics England
GMS Panels
Panels
Genes and Entities
PPP1R13L
protein phosphatase 1 regulatory subunit 13 like
OMIM:
607463
See this entity in PanelApp
Panel
Mode of inheritance
Details
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1 panel
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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 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
sudden cardiac death, cardio-cutaneous syndrome