Genomics England

KAT6B

lysine acetyltransferase 6B

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Arthrogryposis R-numbers: R83 Signed-off version 7.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Genitopatellar syndrome 606170
Green in Clefting Component of the following Super Panels: - Paediatric disorders Signed-off version 6.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Genitopatellar syndrome, OMIM:606170, SBBYSS syndrome, OMIM:603736
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.6	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes BLEPHAROPHIMOSIS/INTELLECTUAL DISABILITY PHENOTYPE WHICH IS NOONAN-LIKE, GENITOPATELLAR SYNDROME 606170
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes BLEPHAROPHIMOSIS/INTELLECTUAL DISABILITY PHENOTYPE WHICH IS NOONAN-LIKE, GENITOPATELLAR SYNDROME
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes SBBYSS syndrome, 603736Genitopatellar syndrome, 606170, BLEPHAROPHIMOSIS/INTELLECTUAL DISABILITY PHENOTYPE WHICH IS NOONAN-LIKE
Green in Rare syndromic craniosynostosis or isolated multisuture synostosis R-numbers: R100 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes KAT6B-related disorders, Genitopatellar syndrome, OMIM:606170
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 6.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Genitopatellar syndrome 606170, SBBYSS syndrome 603736, GTPTS,Ohdo