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: C0853193
Disease: Bipolar I disorder
Bipolar I disorder 		0.310 GeneticVariation disease BEFREE For markers genotyped in replication samples, rs7619173 exhibited a significant association (P(combined) = 2 ∗ 10(-4)) after multiple testing correction, while markers rs11001178 (MYST4) and rs2217887 (NRXN3) showed weak associations (P(combined) = 0.02) with BPD-I. 24444492 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.140 Biomarker group BEFREE The few reported patients with KAT6B haploinsufficiency had a much milder phenotype, though with some features overlapping those of SBBS. 25424711 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.140 GeneticVariation group 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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.140 GeneticVariation group BEFREE BRPF1 encodes a protein modifier of two histone acetyltransferases associated with ID: KAT6A (also known as MOZ or MYST3) and KAT6B (MORF or MYST4). 27939639 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.140 GeneticVariation group BEFREE The histone acetyltransferase Kat6b is relevant for neurogenesis in mouse embryos, and mutations of this gene cause intellectual disability in humans. 30790630 2019
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		0.130 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: C0005744
Disease: Blepharophimosis
Blepharophimosis 		0.130 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: C0005744
Disease: Blepharophimosis
Blepharophimosis 		0.130 GeneticVariation disease BEFREE An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B. 24458743 2014
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.120 Biomarker disease BEFREE With ptosis, hypotonia, and developmental delay as the main diagnostic features of our patient, the effect of histone acetyltransferase-encoding KAT6B gene haploinsufficiency was suspected to have a significant role in determining the phenotype. 27880066 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.120 Biomarker disease BEFREE Additionally, KAT6B and C10orf11 could represent disease-associated genes that contribute to developmental delay, speech and language delay, and congenital cleft palate. 27031267 2017
CUI: C0272302
Disease: Gray Platelet Syndrome
Gray Platelet Syndrome 		0.090 AlteredExpression disease BEFREE Myst4 (the mouse orthologous gene) is expressed in mouse tissues corresponding to those affected by GPS. 22265014 2012
CUI: C0272302
Disease: Gray Platelet Syndrome
Gray Platelet Syndrome 		0.090 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: C0272302
Disease: Gray Platelet Syndrome
Gray Platelet Syndrome 		0.090 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: C0272302
Disease: Gray Platelet Syndrome
Gray Platelet Syndrome 		0.090 GeneticVariation disease BEFREE The Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS) (MIM# 603736) and genitopatellar syndrome (GPS) (MIM#606170) are allelic diseases caused by KAT6B mutation. 27696664 2017
CUI: C0272302
Disease: Gray Platelet Syndrome
Gray Platelet Syndrome 		0.090 GeneticVariation disease BEFREE We detected a de novo truncating variant within exon 7 of KAT6B in a 8-year-old female who presented with mild intellectual disability, facial dysmorphisms highly consistent with SBBYSS, and skeletal anomalies including exostosis, that are usually considered component manifestations of GPS. 29226580 2018
CUI: C0272302
Disease: Gray Platelet Syndrome
Gray Platelet Syndrome 		0.090 GeneticVariation disease BEFREE Using an exome-sequencing approach, we identified de novo mutations of KAT6B in five individuals with GPS; a single nonsense variant and three frameshift indels, including a 4 bp deletion observed in two cases. 22265017 2012
CUI: C0272302
Disease: Gray Platelet Syndrome
Gray Platelet Syndrome 		0.090 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: C0272302
Disease: Gray Platelet Syndrome
Gray Platelet Syndrome 		0.090 GeneticVariation disease BEFREE We suggest that mutations in mid-exon 18 corresponding to the C-terminal end of the acidic (Asp/Glu-rich) domain of KAT6B may have more variable expressivity leading to GPS, SBBYSS or combined phenotypes, in contrast to defects in other regions of the gene which contribute more specifically to either GPS or SBBYSS. 26370006 2015
CUI: C0272302
Disease: Gray Platelet Syndrome
Gray Platelet Syndrome 		0.090 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: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.050 GeneticVariation disease BEFREE t(10;16)(q22;p13) and MORF-CREBBP fusion is a recurrent event in acute myeloid leukemia. 12619164 2003
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.050 GeneticVariation disease BEFREE Fusion of the MORF and CBP genes in acute myeloid leukemia with the t(10;16)(q22;p13). 11157802 2001
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.050 GeneticVariation disease BEFREE Chromosomal rearrangements associated with acute myeloid leukemia (AML) include fusions of the genes encoding the acetyltransferase MOZ or MORF with genes encoding the nuclear receptor coactivator TIF2, p300, or CBP. 15657427 2005
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.050 Biomarker disease BEFREE Mapping of the 17q21 breakpoint by fluorescence in situ hybridization within a specific region in three tumors revealed several positional candidates including GCN5L2, a gene with histone acetyltransferase activity similar to those fused to MORF in AML. 15313893 2004
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.050 GeneticVariation disease BEFREE Variant MYST4-CBP gene fusion in a t(10;16) acute myeloid leukaemia. 15147375 2004
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		0.050 GeneticVariation group BEFREE Leiomyoma with KAT6B-KANSL1 fusion: case report of a rapidly enlarging uterine mass in a postmenopausal woman. 31027501 2019