Proteinuric renal disease
Gene: GAPVD1
GAPVD1 (GTPase activating protein and VPS9 domains 1)
EnsemblGeneIds (GRCh38): ENSG00000165219
EnsemblGeneIds (GRCh37): ENSG00000165219
OMIM: 611714, Gene2Phenotype
GAPVD1 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000165219
EnsemblGeneIds (GRCh37): ENSG00000165219
OMIM: 611714, Gene2Phenotype
GAPVD1 is in 1 panel
1 review
Eleanor Williams (Genomics England Curator)
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 variantsCreated: 4 Feb 2019, 10:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
No OMIM disease association
Publications
- PMID: 29959197
Details
- Sources
-
- NHS GMS
- OMIM
- 611714
- Clinvar variants
- Variants in GAPVD1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
23 Jun 2019, Gel status: 1
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: GAPVD1 were set to
4 Feb 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: GAPVD1 was added gene: GAPVD1 was added to Proteinuric renal disease. Sources: NHS GMS Mode of inheritance for gene: GAPVD1 was set to