Genomics England

KMT2D

lysine methyltransferase 2D

Panel	Mode of inheritance	Details
Filter panels11 panels
Green in Clefting Component of the following Super Panels: - Paediatric disorders Signed-off version 6.1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Kabuki syndrome 1, 147920
Green in Congenital hyperinsulinism R-numbers: R144 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Kabuki syndrome 1, 147920, Autosomal dominant neonatal hypoglycaemia as part of Kabuki syndrome
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes KABUKI SYNDROME 147920
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes KABUKI SYNDROME
Green in Holoprosencephaly - NOT chromosomal Component of the following Super Panels: - Cerebral malformation R-numbers: R85 Signed-off version 5.1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Kabuki syndrome 1, OMIM:147920
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.51	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Kabuki syndrome 1, OMIM:147920
Green in Intestinal failure or congenital diarrhoea R-numbers: R331 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Kabuki syndrome 1, OMIM:147920
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 6.12	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Kabuki syndrome 1, OMIM:147920, Hypogammaglobulinemia, Recurrent infections (otitis media, pneumonia), Autoimmunity
Green in Rare syndromic craniosynostosis or isolated multisuture synostosis R-numbers: R100 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Kabuki syndrome 1, OMIM:147920
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 6.16	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Kabuki syndrome 1 - 147920
Green in Structural eye disease R-numbers: R36 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Kabuki syndrome 1, OMIM:147920, Coloboma, Microphthalmia