Proteinuria
Gene: KANK4EnsemblGeneIds (GRCh38): ENSG00000132854
EnsemblGeneIds (GRCh37): ENSG00000132854
OMIM: 614612, Gene2Phenotype
KANK4 is in 2 panels
2 reviews
Chirag Patel (Genetic Health Queensland)
Discussed with Z Stark as part of review - downgraded.Created: 9 Jan 2020, 3:42 a.m. | Last Modified: 9 Jan 2020, 3:42 a.m.
Panel Version: 0.78
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Single family with two affected individuals reported; belongs to family of proteins implicated in nephrotic syndrome.
Sources: Expert listCreated: 20 Dec 2019, 2:34 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephrotic syndrome
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert list
- OMIM
- 614612
- Clinvar variants
- Variants in KANK4
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: kank4 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kank4 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kank4 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: KANK4 was added gene: KANK4 was added to Proteinuria_VCGS_KidGen. Sources: Expert list Mode of inheritance for gene: KANK4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KANK4 were set to 25961457 Review for gene: KANK4 was set to AMBER