KAT6B, lysine acetyltransferase 6B, 23522

N. diseases: 208; N. variants: 27
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853566
Disease: Genitopatellar Syndrome
Genitopatellar Syndrome 		0.800 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: C1853566
Disease: Genitopatellar Syndrome
Genitopatellar Syndrome 		0.800 GeneticVariation disease BEFREE A Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome with a KAT6B 10-base pair palindromic duplication: A recurrent mutation causing a severe phenotype mixed with genitopatellar syndrome. 27696664 2017
CUI: C1853566
Disease: Genitopatellar Syndrome
Genitopatellar Syndrome 		0.800 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: C1853566
Disease: Genitopatellar Syndrome
Genitopatellar Syndrome 		0.800 GeneticVariation disease BEFREE SBBYS syndrome-causing KAT6B mutations cluster in a ~1,700 basepair region in the 3' part of the large exon 18, while mutations located in the 5' region of the same exon have recently been identified to cause the genitopatellar syndrome (GPS), a clinically distinct although partially overlapping malformation-intellectual disability syndrome. 23436491 2013
CUI: C1853566
Disease: Genitopatellar Syndrome
Genitopatellar Syndrome 		0.800 Biomarker disease BEFREE The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. 22715153 2012
CUI: C1853566
Disease: Genitopatellar Syndrome
Genitopatellar Syndrome 		0.800 GeneticVariation disease BEFREE The phenotypic spectrum of KAT6B mutations has been expanding since identification of KAT6B mutations in genitopatellar syndrome (GPS) and Say Barber Biesecker Young Simpson (SBBYS) syndrome patients. 28696035 2017
CUI: C1853566
Disease: Genitopatellar Syndrome
Genitopatellar Syndrome 		0.800 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: C1853566
Disease: Genitopatellar Syndrome
Genitopatellar Syndrome 		0.800 GeneticVariation disease BEFREE A novel truncating variant within exon 7 of KAT6B associated with features of both Say-Barber-Bieseker-Young-Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders. 29226580 2018
CUI: C1853566
Disease: Genitopatellar Syndrome
Genitopatellar Syndrome 		0.800 GeneticVariation disease BEFREE Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. 22265014 2012
CUI: C1853566
Disease: Genitopatellar Syndrome
Genitopatellar Syndrome 		0.800 GeneticVariation disease BEFREE KAT6B sequence variants have been identified previously in both patients with the Say-Barber-Biesecker type of blepharophimosis mental retardation syndromes (SBBS) and in the more severe genitopatellar syndrome (GPS). 25424711 2015
CUI: C1853566
Disease: Genitopatellar Syndrome
Genitopatellar Syndrome 		0.800 GeneticVariation disease BEFREE Mutations of the histone acetyltransferase-encoding KAT6B gene cause the Say-Barber-Biesecker/Young-Simpson (SBBYS) type of blepharophimosis-"mental retardation" syndromes and the more severe genitopatellar syndrome. 26334766 2015
CUI: C1853566
Disease: Genitopatellar Syndrome
Genitopatellar Syndrome 		0.800 GeneticVariation disease BEFREE De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome. 22265017 2012
CUI: C1853566
Disease: Genitopatellar Syndrome
Genitopatellar Syndrome 		0.800 GeneticVariation disease BEFREE This mutation likely has a dominant-negative or gain-of-function effect, similar to those observed in other genetic disorders resulting from KAT6B mutations, including Say-Barber-Biesecker-Young-Simpson (SBBYSS) and genitopatellar syndrome (GTPTS). 24458743 2014
CUI: C1853566
Disease: Genitopatellar Syndrome
Genitopatellar Syndrome 		0.800 GeneticVariation disease BEFREE Genitopatellar syndrome (GPS) and Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) are two distinct clinically overlapping syndromes caused by de novo heterozygous truncating mutations in the KAT6B gene encoding lysine acetyltransferase 6B, a part of the histone H3 acetyltransferase complex. 26370006 2015
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 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 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 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 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 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 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 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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.310 GeneticVariation disease BEFREE Two variants in KAT6B, an acetal transferase gene, were identified in six family members of which five were affected with breast cancer and one is the unaffected obligate carrier. 23800003 2014
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.310 GeneticVariation disease BEFREE Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice. 21804188 2011