Genomics England
GMS Panels
Panels
Genes and Entities

ANKRD11

ankyrin repeat domain 11
OMIM: 611192
PanelMode of inheritanceDetails
7 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.1
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 4.15
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
KBG SYNDROME 148050
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 6.9
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
KBG syndrome, 148050
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.195
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
KBG SYNDROME
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
KBG syndrome, 148050, KBG SYNDROME
Green
in Monogenic short stature
R-numbers: R453
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
KBG syndrome, OMIM:148050
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 6.16
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
KBG syndrome 148050