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  3. SYNPO
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Proteinuric renal disease

Gene: SYNPO

Red List (low evidence)
SYNPO (synaptopodin)
EnsemblGeneIds (GRCh38): ENSG00000171992
EnsemblGeneIds (GRCh37): ENSG00000171992
OMIM: 608155, Gene2Phenotype
SYNPO is in 1 panel

1 review

Eleanor Williams (Genomics England Curator)

I don't know

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: SYNPO; Suggested initial gene rating: amber; Evidence for inclusion: PMID: 19666657; Other comments: Amber: Two unrelated patients with promoter variants. Supporting functional work.
Created: 4 Feb 2019, 10:41 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
FSGS

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 4 Feb 2019, 10:41 a.m.

Panel version: 1.16

Details

Sources
  • NHS GMS
Phenotypes
  • Focal segmental glomerulosclerosis
  • FSGS
OMIM
608155
Clinvar variants
Variants in SYNPO
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Jun 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: SYNPO were changed from to Focal segmental glomerulosclerosis; FSGS

23 Jun 2019, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: SYNPO were set to

4 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: SYNPO was added gene: SYNPO was added to Proteinuric renal disease. Sources: NHS GMS Mode of inheritance for gene: SYNPO was set to