Proteinuric renal disease
Gene: KANK1
KANK1 (KN motif and ankyrin repeat domains 1)
EnsemblGeneIds (GRCh38): ENSG00000107104
EnsemblGeneIds (GRCh37): ENSG00000107104
OMIM: 607704, Gene2Phenotype
KANK1 is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000107104
EnsemblGeneIds (GRCh37): ENSG00000107104
OMIM: 607704, Gene2Phenotype
KANK1 is in 3 panels
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: KANK1; Suggested initial gene rating: red; Evidence for inclusion: PMID: 25961457; Other comments: Only one patient in a single publication of a patient with a rare hom KANK1 variant and SSNSCreated: 4 Feb 2019, 10:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Steroid sensitive resistant nephrotic syndrome
Publications
- PMID: 25961457
Variants in this GENE are reported as part of current diagnostic practice
Details
- Sources
-
- NHS GMS
- Phenotypes
-
- Steroid sensitive resistant nephrotic syndrome
- OMIM
- 607704
- Clinvar variants
- Variants in KANK1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
24 Jun 2019, Gel status: 1
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: KANK1 were changed from to Steroid sensitive resistant nephrotic syndrome
24 Jun 2019, Gel status: 1
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: KANK1 were set to
4 Feb 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: KANK1 was added gene: KANK1 was added to Proteinuric renal disease. Sources: NHS GMS Mode of inheritance for gene: KANK1 was set to