KAT6B, lysine acetyltransferase 6B, 23522

N. diseases: 208; N. variants: 27
Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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 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 Biomarker group HPO