Genomics England

ANKRD11

ankyrin repeat domain 11

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Clefting Component of the following Super Panels: - Paediatric disorders Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes KBG syndrome,148050 (orofacial clefting, intellectual disability, dental anomalies, dysmorphism), Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome, Orofacial Clefting with skeletal features
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes KBG SYNDROME 148050
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes KBG syndrome, 148050
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes KBG SYNDROME
Green in Growth failure in early childhood R-numbers: R147 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes KBG, KBG syndrome, 148050
Green in Intellectual disability - microarray and sequencing Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes KBG syndrome, 148050, KBG SYNDROME
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes KBG syndrome 148050