Proteinuric renal disease
Gene: KAT2BEnsemblGeneIds (GRCh38): ENSG00000114166
EnsemblGeneIds (GRCh37): ENSG00000114166
OMIM: 602303, Gene2Phenotype
KAT2B is in 2 panels
2 reviews
Eleanor Williams (Genomics England Curator)
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.Created: 5 Nov 2024, 2:22 p.m. | Last Modified: 5 Nov 2024, 2:22 p.m.
Panel Version: 4.20
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.Created: 5 Nov 2024, 2:20 p.m. | Last Modified: 5 Nov 2024, 2:20 p.m.
Panel Version: 4.16
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
steroid-resistant nephrotic syndrome, MONDO:0044765
Publications
Riyaad Aungraheeta (Bristol Genetics Laboratory)
Phenotypes
Steroid-resistant nephrotic syndrome
Publications
- PMID: 39366742
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- steroid-resistant nephrotic syndrome, MONDO:0044765
- OMIM
- 602303
- Clinvar variants
- Variants in KAT2B
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: kat2b has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: KAT2B were changed from Steroid-resistant nephrotic syndrome to steroid-resistant nephrotic syndrome, MONDO:0044765
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: KAT2B were set to PMID: 39366742
Set mode of inheritance
Eleanor Williams (Genomics England Curator)Mode of inheritance for gene: KAT2B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Riyaad Aungraheeta (Bristol Genetics Laboratory)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