Genomics England
GMS Panels
Panels
Genes and Entities
Central congenital hypoventilation (Version:
1.0
)
Relevant disorders:
R333
Signed off date:
14 Sept 2023
Panel types:
GMS Rare Disease, GMS signed-off
See this panel in PanelApp
1 green entities
Entity rating
Entity
Mode of inheritance
Mode of pathogenicity
Tags
Green
PHOX2B
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
N/A
N/A