Genomics England
GMS Panels
Panels
Genes and Entities

PLVAP

plasmalemma vesicle associated protein
OMIM: 607647
PanelMode of inheritanceDetails
2 panels
Green
in Intestinal failure or congenital diarrhoea
R-numbers: R331
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Diarrhoea 10, protein-losing enteropathy type, OMIM:618183
Green
in Paediatric disorders - additional genes
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Diarrhoea 10, protein-losing enteropathy type, OMIM:618183