Genomics England
GMS Panels
Panels
Genes and Entities

KAT6B

lysine acetyltransferase 6B
OMIM: 605880
PanelMode of inheritanceDetails
7 panels
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 8.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Genitopatellar syndrome 606170
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.3
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 5.0
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 5.0
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 8.0
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 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Genitopatellar syndrome 606170, SBBYSS syndrome 603736, GTPTS,Ohdo