1. Genes and Genomic Entities
  2. PLVAP

PLVAP

plasmalemma vesicle associated protein
OMIM: 607647, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green PLVAP in VACTERL-like phenotypes

Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.35

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Diarrhoea 10, protein-losing enteropathy type, OMIM:618183
Green PLVAP in Intestinal failure or congenital diarrhoea


Level 2: Gastrohepatology
Version 3.11
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Diarrhoea 10, protein-losing enteropathy type, OMIM:618183
Green PLVAP in CAKUT

Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 1.182

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Diarrhoea 10, protein-losing enteropathy type, OMIM:618183
Amber PLVAP in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.185
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Diarrhoea 10, protein-losing enteropathy type, OMIM:618183
Green PLVAP in Paediatric disorders - additional genes


Level 2: Developmental disorders
Version 7.41
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Diarrhoea 10, protein-losing enteropathy type, OMIM:618183