Activity
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| Proteinuric renal disease v4.20 | KAT2B | Eleanor Williams Classified gene: KAT2B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v4.20 | KAT2B | Eleanor Williams Added comment: Comment on list classification: Promoting this gene to amber based on 1 case plus a second supportive case (with an additional possible variant) and a Drosophila model. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v4.20 | KAT2B | Eleanor Williams Gene: kat2b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v4.19 | KAT2B | Eleanor Williams Phenotypes for gene: KAT2B were changed from Steroid-resistant nephrotic syndrome to steroid-resistant nephrotic syndrome, MONDO:0044765 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v4.18 | KAT2B | Eleanor Williams Publications for gene: KAT2B were set to PMID: 39366742 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v4.17 | KAT2B | Eleanor Williams Mode of inheritance for gene: KAT2B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v4.16 | KAT2B |
Eleanor Williams changed review comment from: 1 case reported of biallelic variants in KAT2B and steroid-resistant nephrotic syndrome. 2nd case with a similar phenotype but an additional variant ADD which may contribute to the patients phenotype. PMID: 39366742 - Niel et al 2024 - 2 siblings originating from Montenegro who presented in teenage years with steroid-resistant nephrotic syndrome and had bilateral cataracts in early childhood. WES identified a homozygous variant in KAT2B in both patients (NM_003884.5:c.700dup, NP_003875.3:p.(Ser234LysfsTer13)), leading to a 1-base insertion, a frameshift and a premature stop codon in exon 6/18. The variant was not described in gnomAD, and was hetrozygous in both parents, who are unrelated but originate from the same geographical location in Montenegro. No pathogenic variants of other genes of interest, including ADD3 (previous cases with variants in both KAT2B and ADD and nephrotic syndrome have been reported PMID: 29768408), were identified. PMID: 29768408 - Gonçalves et al 2018 - report 3 families with intellectual disability. Biallelic missense ADD variants were found in all probands, but in one family an additional homozygous variant (c.920T>C, p.F307S) was found in KAT2B. In this family, 3 affected siblings also presented with steroid-resistant nephrotic syndrome and proteinuira below the age of 13, dilated cardiomyopathy and bilateral cateracts. Bilateral cateracts were also reported in one of the probands with ADD variants only. In Drosophila KAT2B F307S mutants displayed both heart and renal defects will ADD mutants did not.; to: 1 case reported of biallelic variants in KAT2B and steroid-resistant nephrotic syndrome. 2nd case with a similar phenotype but an additional variant ADD which may contribute to the patients phenotype. Drosophila KAT2B mutant replicates the renal phenotype. PMID: 39366742 - Niel et al 2024 - 2 siblings originating from Montenegro who presented in teenage years with steroid-resistant nephrotic syndrome and had bilateral cataracts in early childhood. WES identified a homozygous variant in KAT2B in both patients (NM_003884.5:c.700dup, NP_003875.3:p.(Ser234LysfsTer13)), leading to a 1-base insertion, a frameshift and a premature stop codon in exon 6/18. The variant was not described in gnomAD, and was hetrozygous in both parents, who are unrelated but originate from the same geographical location in Montenegro. No pathogenic variants of other genes of interest, including ADD3 (previous cases with variants in both KAT2B and ADD and nephrotic syndrome have been reported PMID: 29768408), were identified. PMID: 29768408 - Gonçalves et al 2018 - report 3 families with intellectual disability. Biallelic missense ADD variants were found in all probands, but in one family an additional homozygous variant (c.920T>C, p.F307S) was found in KAT2B. In this family, 3 affected siblings also presented with steroid-resistant nephrotic syndrome and proteinuira below the age of 13, dilated cardiomyopathy and bilateral cateracts. Bilateral cateracts were also reported in one of the probands with ADD variants only. In Drosophila KAT2B F307S mutants displayed both heart and renal defects will ADD mutants did not. |
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| Proteinuric renal disease v4.16 | KAT2B | Eleanor Williams reviewed gene: KAT2B: Rating: AMBER; Mode of pathogenicity: None; Publications: 39366742, 29768408; Phenotypes: steroid-resistant nephrotic syndrome, MONDO:0044765; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v4.14 | KAT2B | Riyaad Aungraheeta reviewed gene: KAT2B: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 39366742; Phenotypes: Steroid-resistant nephrotic syndrome; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v4.14 | KAT2B | Riyaad Aungraheeta Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v4.14 | KAT2B |
Riyaad Aungraheeta gene: KAT2B was added gene: KAT2B was added to Proteinuric renal disease. Sources: Literature Mode of inheritance for gene: KAT2B was set to Unknown Publications for gene: KAT2B were set to PMID: 39366742 Phenotypes for gene: KAT2B were set to Steroid-resistant nephrotic syndrome Penetrance for gene: KAT2B were set to unknown Review for gene: KAT2B was set to AMBER Added comment: Sources: Literature |
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