Proteinuric renal disease
Gene: KANK4
KANK4 (KN motif and ankyrin repeat domains 4)
EnsemblGeneIds (GRCh38): ENSG00000132854
EnsemblGeneIds (GRCh37): ENSG00000132854
OMIM: 614612, Gene2Phenotype
KANK4 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000132854
EnsemblGeneIds (GRCh37): ENSG00000132854
OMIM: 614612, Gene2Phenotype
KANK4 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: KANK4; Suggested initial gene rating: red; Evidence for inclusion: PMID: 25961457; Other comments: Two unrelated patients homozygous for KANK4 variant in PMID 2591457, but MAF of this variant is 0.1% on gnomAD (no reported hom on gnomAD)Created: 4 Feb 2019, 10:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
No OMIM disease association
Publications
- PMID: 25961457
Variants in this GENE are reported as part of current diagnostic practice
Details
- Sources
-
- NHS GMS
- OMIM
- 614612
- Clinvar variants
- Variants in KANK4
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
24 Jun 2019, Gel status: 1
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: KANK4 were set to
4 Feb 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: KANK4 was added gene: KANK4 was added to Proteinuric renal disease. Sources: NHS GMS Mode of inheritance for gene: KANK4 was set to