Genomics England
GMS Panels
Panels
Genes and Entities
PISD
phosphatidylserine decarboxylase
OMIM:
612770
See this entity in PanelApp
Panel
Mode of inheritance
Details
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1 panel
Green
in
Skeletal dysplasia
Component of the following Super Panels:
- Paediatric disorders
R-numbers:
R104
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Liberfarb syndrome, OMIM:618889