Genomics England
GMS Panels
Panels
Genes and Entities
PPP2R3C
protein phosphatase 2 regulatory subunit B''gamma
OMIM:
615902
See this entity in PanelApp
Panel
Mode of inheritance
Details
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1 panel
Green
in
Fetal anomalies
R-numbers:
R21
,
R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy, OMIM:618419