Nephrocalcinosis or nephrolithiasis
Gene: ZNF365
ZNF365 (zinc finger protein 365)
EnsemblGeneIds (GRCh38): ENSG00000138311
EnsemblGeneIds (GRCh37): ENSG00000138311
OMIM: 607818, Gene2Phenotype
ZNF365 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000138311
EnsemblGeneIds (GRCh37): ENSG00000138311
OMIM: 607818, Gene2Phenotype
ZNF365 is in 1 panel
4 reviews
Detlef Bockenhauer (GOSH-UCL)
Paper from 2003 reporting it and nobody else has since reported on it.Created: 30 Oct 2019, 11:59 a.m. | Last Modified: 30 Oct 2019, 11:59 a.m.
Panel Version: 1.23
Eleanor Williams (Genomics England Curator)
Provisional association with {Nephrolithiasis, uric acid, susceptibility to} #605990 in OMIM.
PubMed search did not find any further papers beyond the study of 2003 (PMID: 12740763)
Keep red rating.Created: 20 Oct 2019, 11:42 p.m. | Last Modified: 20 Oct 2019, 11:43 p.m.
Panel Version: 1.20
Fiona Karet (Universit y of Cambridge)
Mode of inheritance
Unknown
Phenotypes
Possible cause of uric acid stones
Ellen McDonagh (Genomics England Curator)
Comment on list classification: A common variant within this gene was reported to have an association with increased susceptibility to uric acid nephrolithiasis in a case-control study of a Sardinian population (PMID: 12740763). No further evidence was found in a literature search. As this is a common variant and associated with susceptibility to the disorder, it is not suitable at this stage to promote this gene to green for this panel for rare variant analysis.Created: 20 May 2016, 10:19 a.m.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert
- Phenotypes
-
- Possible cause of uric acid stones
- {Nephrolithiasis, uric acid, susceptibility to}
- OMIM
- 607818
- Clinvar variants
- Variants in ZNF365
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
20 May 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
20 May 2016, Gel status: 1
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for ZNF365 were set to Possible cause of uric acid stones; {Nephrolithiasis, uric acid, susceptibility to}
20 May 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
7 May 2015, Gel status: 0
Added New Source
Eik Haraldsdottir (Genomics England)ZNF365 was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Expert