KMT2D

lysine methyltransferase 2D
OMIM: 602113
PanelMode of inheritanceDetails
11 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Kabuki syndrome 1, 147920
R-numbers: R144
Signed-off version 2.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Kabuki syndrome 1, 147920, Autosomal dominant neonatal hypoglycaemia as part of Kabuki syndrome
R-numbers: R100
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Kabuki syndrome 1, OMIM:147920
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
KABUKI SYNDROME 147920
R-numbers: R21, R412
Signed-off version 2.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
KABUKI SYNDROME
Component of the following Super Panels:
  • - Cerebral malformations
R-numbers: R85
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Kabuki syndrome 1, OMIM:147920
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Kabuki syndrome 1, OMIM:147920
R-numbers: R331
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Kabuki syndrome 1, OMIM:147920
R-numbers: R15
Signed-off version 3.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Kabuki syndrome 1, OMIM:147920, Hypogammaglobulinemia, Recurrent infections (otitis media, pneumonia), Autoimmunity
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Kabuki syndrome 1 - 147920
R-numbers: R36
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Kabuki syndrome 1, OMIM:147920, Coloboma, Microphthalmia