Proteinuric renal diseaseGene: GAPVD1
This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, February 2019 on behalf of the GMS Renal Specialist Test Group. Gene Symbol submitted: GAPVD1; Suggested initial gene rating: amber; Evidence for inclusion: PMID: 29959197; Other comments: Amber: One paper (PMID: 29959197) reports two unrelated patients with early-onset nephrotic syndrome and homozygous GAPVD1 variants
Created: 4 Feb 2019, 10:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
No OMIM disease association
Publications for gene: GAPVD1 were set to
gene: GAPVD1 was added gene: GAPVD1 was added to Proteinuric renal disease. Sources: NHS GMS Mode of inheritance for gene: GAPVD1 was set to