KAT6B, lysine acetyltransferase 6B, 23522

N. diseases: 208; N. variants: 27
Disease: Young Simpson syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1863557
Disease: Young Simpson syndrome
Young Simpson syndrome 		0.790 GeneticVariation disease BEFREE Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) and Genitopatellar syndrome (GTPTS) are very rare conditions caused by KAT6B truncating variants. 30569622 2019
CUI: C1863557
Disease: Young Simpson syndrome
Young Simpson syndrome 		0.790 GeneticVariation disease BEFREE The Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS) and Genitopatellar syndrome (GTPTS) are 2 rare but clinically well-described diseases caused by de novo heterozygous sequence variants in the KAT6B gene. 28857140 2019
CUI: C1863557
Disease: Young Simpson syndrome
Young Simpson syndrome 		0.790 Biomarker disease BEFREE Although SBBYSS and GPS have been initially considered allelic disorders with distinctive genetic and clinical features, there is evidence that they represent two ends of a spectrum of conditions referable as KAT6B-related disorders. 29226580 2018
CUI: C1863557
Disease: Young Simpson syndrome
Young Simpson syndrome 		0.790 GeneticVariation disease BEFREE He had a KAT6B mutation previously reported in typical SBBYSS, but he also manifested severe developmental delay, as well as genital features and laryngomalacia requiring tracheostomy that conformed to GPS. 27696664 2017
CUI: C1863557
Disease: Young Simpson syndrome
Young Simpson syndrome 		0.790 Biomarker disease BEFREE Our findings support that phenotypes associated with typical KAT6B disease-causing variants should be referred to as 'KAT6B spectrum disorders' or 'KAT6B related disorders', rather than their current SBBYSS and GTPTS classification. 27452416 2017
CUI: C1863557
Disease: Young Simpson syndrome
Young Simpson syndrome 		0.790 CausalMutation disease CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
CUI: C1863557
Disease: Young Simpson syndrome
Young Simpson syndrome 		0.790 GeneticVariation disease BEFREE A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing. 26334766 2015
CUI: C1863557
Disease: Young Simpson syndrome
Young Simpson syndrome 		0.790 GeneticVariation disease BEFREE Notwithstanding the clinical overlap, our cluster analysis of phenotypes of all known patients with KAT6B mutations supports the existence of two clinical entities, GPS and SBBYSS, as poles within the KAT6B-related disease spectrum. 26370006 2015
CUI: C1863557
Disease: Young Simpson syndrome
Young Simpson syndrome 		0.790 GeneticVariation disease BEFREE De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome. 23436491 2013
CUI: C1863557
Disease: Young Simpson syndrome
Young Simpson syndrome 		0.790 GermlineCausalMutation disease ORPHANET Genitopatellar syndrome (GPS) and Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS or Ohdo syndrome) have both recently been shown to be caused by distinct mutations in the histone acetyltransferase KAT6B (a.k.a.MYST4/MORF). 22715153 2012
CUI: C1863557
Disease: Young Simpson syndrome
Young Simpson syndrome 		0.790 GeneticVariation disease BEFREE Genitopatellar syndrome (GPS) and Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS or Ohdo syndrome) have both recently been shown to be caused by distinct mutations in the histone acetyltransferase KAT6B (a.k.a.MYST4/MORF). 22715153 2012
CUI: C1863557
Disease: Young Simpson syndrome
Young Simpson syndrome 		0.790 CausalMutation disease CLINVAR Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. 22077973 2011
CUI: C1863557
Disease: Young Simpson syndrome
Young Simpson syndrome 		0.790 Biomarker disease GENOMICS_ENGLAND
CUI: C1863557
Disease: Young Simpson syndrome
Young Simpson syndrome 		0.790 GeneticVariation disease CLINVAR
CUI: C1863557
Disease: Young Simpson syndrome
Young Simpson syndrome 		0.790 Biomarker disease CTD_human
CUI: C1863557
Disease: Young Simpson syndrome
Young Simpson syndrome 		0.790 Biomarker disease GENOMICS_ENGLAND