Genomics England
GMS Panels
Panels
Genes and Entities
PPP1R13L
protein phosphatase 1 regulatory subunit 13 like
OMIM:
607463
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Panel
Mode of inheritance
Details
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Cardiomyopathies - including childhood onset
R-numbers:
R135
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
sudden cardiac death, cardio-cutaneous syndrome