Genomics England
GMS Panels
Panels
Genes and Entities
PRPF19
pre-mRNA processing factor 19
OMIM:
608330
See this entity in PanelApp
Panel
Mode of inheritance
Details
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1 panel
Green
in
DDG2P
Component of the following Super Panels:
- Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
PRPF19-related neurodevelopmental disorder