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| Proteinuric renal disease v2.9 | KANK2 | Eleanor Williams Classified gene: KANK2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.9 | KANK2 | Eleanor Williams Added comment: Comment on list classification: Changing rating from red to amber - 2 reported cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.9 | KANK2 | Eleanor Williams Gene: kank2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.0 | KANK2 |
Eleanor Williams commented on gene: KANK2: 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. |
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| Proteinuric renal disease v2.0 | KANK2 | Zornitza Stark reviewed gene: KANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25961457; Phenotypes: Nephrotic syndrome, type 16, MIM#617783; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.152 | KANK2 | Eleanor Williams Phenotypes for gene: KANK2 were changed from Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome to Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome; Nephrotic syndrome 16 #617783 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.151 | KANK2 | Eleanor Williams Publications for gene: KANK2 were set to J Clin Invest. 2015; 125(6):2375–2384 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.16 | KANK2 | Eleanor Williams reviewed gene: KANK2: Rating: AMBER; Mode of pathogenicity: ; Publications: PMID: 25961457; Phenotypes: Nephrotic syndrome 16 #617783; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.15 | KANK2 | Eleanor Williams Source NHS GMS was added to KANK2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||