Proteinuric renal disease

Gene: KANK2

Green List (high evidence)

Our reading of Table 1 in this paper is that there were three unrelated families reported; plus animal model. The text does only mention two.

Created: 9 Jan 2020, 3:41 a.m. | Last Modified: 9 Jan 2020, 3:41 a.m.

Panel Version: 2.0

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephrotic syndrome, type 16, MIM#617783

Publications

• 25961457

I don't know

Comment on list classification: Changing rating from red to amber - 2 reported cases.

Created: 21 Mar 2020, 2:25 p.m. | Last Modified: 21 Mar 2020, 2:25 p.m.

Panel Version: 2.9

Associated with Nephrotic syndrome, type 16 #617783 (AR) in OMIM.

PMID: 25961457 - Gee et al 2015 - performed homozygosity mapping and whole-exome sequencing in individuals with NS identified recessive mutations in KANK2 in two families with NS. In family A982 of Arab origin, 2 siblings had early-onset SSNS and were found to have a homozygous missense mutation c.541A>G;p.S181G in KANK2. It segregated with the disorder in the family. In an unrelated individual with SSNS (A1751-21), they found a homozygous missense mutation (c.2051C>T;p.S684F) in KANK2. 27 known genes previously linked to SRNS were screened in this individual, but no explanatory mutations were detected. Knockdown of kank2 in zebrafish results in proteinuria which could be partially rescued by wild type human KANK2 mRNA but not either of the mutant mRNAs.

My reading of Table 1 is that there were two cases - one family with two siblings (individuals A982-21 and A982-22) with the same variant, and a second unrelated individual (A1751-21) with a different missense variant.

Created: 30 Jan 2020, 2:59 p.m. | Last Modified: 30 Jan 2020, 2:59 p.m.

Panel Version: 2.0

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: KANK2; Suggested initial gene rating: amber; Evidence for inclusion: PMID: 25961457; Other comments: Amber: One paper (PMID:25961457) reports rare AR KANK2 variants in association with nephrotic syndrome in three patients from two unrelated families

Created: 4 Feb 2019, 10:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephrotic syndrome 16 #617783

Publications

• PMID: 25961457

Variants in this GENE are reported as part of current diagnostic practice

Comment on list classification: Only 2 families reported to date but probably a genuine cause so keep under review.

Created: 27 May 2016, 12:22 p.m.

Comment on list classification: Gene added by a reviewer.

Created: 13 May 2016, 2:16 p.m.