Genomics England

KIF11

kinesin family member 11

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes AUTOSOMAL-DOMINANT MICROCEPHALY ASSOCIATED WITH LYMPHEDEMA AND/OR CHORIORETINOPATHY 152950
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes AUTOSOMAL-DOMINANT MICROCEPHALY ASSOCIATED WITH LYMPHEDEMA AND/OR CHORIORETINOPATHY
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, 152950, AUTOSOMAL-DOMINANT MICROCEPHALY ASSOCIATED WITH LYMPHEDEMA AND/OR CHORIORETINOPATHY
Green in Primary lymphoedema R-numbers: R136 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, MCLMR 152950
Green in Retinal disorders R-numbers: R32 Signed-off version 5.4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Genetic Retinal Degeneration Conditions
Green in Severe microcephaly R-numbers: R88 Signed-off version 5.7	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, 152950, Autosomal-dominant microcephaly associated with lymphedema and/or chorioretinopathy, 152950
Green in Structural eye disease R-numbers: R36 Signed-off version 3.79	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development, OMIM:152950