Proteinuria
Gene: KANK2
KANK2 (KN motif and ankyrin repeat domains 2)
EnsemblGeneIds (GRCh38): ENSG00000197256
EnsemblGeneIds (GRCh37): ENSG00000197256
OMIM: 614610, Gene2Phenotype
KANK2 is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000197256
EnsemblGeneIds (GRCh37): ENSG00000197256
OMIM: 614610, Gene2Phenotype
KANK2 is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Three unrelated families reported, animal model.
Sources: Expert listCreated: 20 Dec 2019, 2:27 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephrotic syndrome, type 16, MIM#617783
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Nephrotic syndrome, type 16, MIM#617783
- OMIM
- 614610
- Clinvar variants
- Variants in KANK2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
20 Dec 2019, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kank2 has been classified as Green List (High Evidence).
20 Dec 2019, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kank2 has been classified as Green List (High Evidence).
20 Dec 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: KANK2 was added gene: KANK2 was added to Proteinuria_VCGS_KidGen. Sources: Expert list Mode of inheritance for gene: KANK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KANK2 were set to 25961457 Phenotypes for gene: KANK2 were set to Nephrotic syndrome, type 16, MIM#617783 Review for gene: KANK2 was set to GREEN