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 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 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 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 CausalMutation disease CLINVAR Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders. 28696035 2017
CUI: C1853566
Disease: Genitopatellar Syndrome
Genitopatellar Syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND De Novo 1.77-Mb Microdeletion of 10q22.2q22.3 in a Girl With Developmental Delay, Speech Delay, Congenital Cleft Palate, and Bilateral Hearing Impairment. 27031267 2017
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 CausalMutation disease CLINVAR Further delineation of the KAT6B molecular and phenotypic spectrum. 25424711 2015
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: 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 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 GENOMICS_ENGLAND Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. 22265014 2012
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 GermlineCausalMutation disease ORPHANET Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. 22265014 2012
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 GermlineCausalMutation disease ORPHANET 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 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 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: C1853566
Disease: Genitopatellar Syndrome
Genitopatellar Syndrome 		0.800 Biomarker disease CTD_human
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