Intestinal failure or congenital diarrhoeaGene: PLVAP
The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Created: 8 Mar 2022, 11:44 a.m. | Last Modified: 8 Mar 2022, 11:44 a.m.
Panel Version: 1.48
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Created: 12 Apr 2021, 12:51 p.m. | Last Modified: 12 Apr 2021, 12:51 p.m.
Panel Version: 1.33
Comment on publications: PMID: 26207260. Patient is of Afgan descent born to consanguineous parents. Presented at 8 days of life with secretory diarrhea, metabolic acidosis, lethargy, poor feeding, and severe hyponatremia causing seizures. Further examination shows patient had bilateral colobomas, undescended testes, mildly dysplastic kidneys bilaterally, low-set ears, and micrognathia.
PMID: 29875123. 2 patients (first cousins) from a Muslim Arab consanguineous kindred presented with anasarca, severe hypoalbuminaemia and hypogammaglobinaemia.
PMID: 29661969. Patient is of Turkish descent born to consanguineous parents. Presented with severe haematochezia and moderate anasarca. Other findings: dysmorphism, metabolic acidosis, electrolyte deficiencies, elevated GGT, choroid plexus cysts, iris cysts, ASD, VSD, dilated megaureter with dilated renal pelvis, venous thrombosis.
PMID: 31215290. Patient born to consanguineous parents. As well as intestinal phenotypes, she also had dysmorphic features, renal and cardiac phenotypes.
Created: 12 Apr 2021, 12:50 p.m. | Last Modified: 12 Apr 2021, 12:50 p.m.
Panel Version: 1.32
Diarrhoea-10 is a protein-losing enteropathy characterized by intractable secretory diarrhoea and massive protein loss due to leaky fenestrated capillaries. Features include early-onset anasarca, severe hypoalbuminemia, hypogammaglobulinemia, and hypertriglyceridemia, as well as electrolyte abnormalities. Some patients exhibit facial dysmorphism and cardiac and renal anomalies. Intrafamilial variability has been observed, and the disease can be severe, with death occurring in infancy in some patients.
Four unrelated families reported.
Sources: Expert Review
Created: 5 Jan 2021, 8:37 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Diarrhoea 10, protein-losing enteropathy type, MIM# 618183
Variants in this GENE are reported as part of current diagnostic practice
Tag Q2_21_rating was removed from gene: PLVAP.
Source Expert Review Green was added to PLVAP. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: plvap has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating tag was added to gene: PLVAP.
Publications for gene: PLVAP were set to 29875123; 29661969; 26207260; 31215290
Phenotypes for gene: PLVAP were changed from Diarrhoea 10, protein-losing enteropathy type, MIM# 618183 to Diarrhoea 10, protein-losing enteropathy type, OMIM:618183
gene: PLVAP was added gene: PLVAP was added to Intestinal failure. Sources: Expert Review Mode of inheritance for gene: PLVAP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLVAP were set to 29875123; 29661969; 26207260; 31215290 Phenotypes for gene: PLVAP were set to Diarrhoea 10, protein-losing enteropathy type, MIM# 618183 Review for gene: PLVAP was set to GREEN gene: PLVAP was marked as current diagnostic