Clefting
Gene: ANKRD11Comment on list classification: Changed status to Green, clefting is a common enough feature and the other features can be subtleCreated: 9 Feb 2017, 2:28 p.m.
Comment on list classification: Changed status from Red to Amber- This disorder has a heterogeneous phenotype. There seems to be enough evidence for this gene to be involved in KGB syndrome but it depends if this should be in the clefting panel.Created: 24 Jan 2017, 2:25 p.m.
Comment on publications: added recent publications providing new evidenceCreated: 24 Jan 2017, 2:08 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
KBG syndrome- orofacial clefting; intellectual disability; dental anomalies; dysmorphism
Variants in this GENE are reported as part of current diagnostic practice
Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
This gene has been classified as Green List (High Evidence).
ANKRD11 was added to Cleftingpanel. Sources: Radboud University Medical Center, Nijmegen
This gene has been classified as Amber List (Moderate Evidence).
Publications for ANKRD11 were set to 21782149;25838844;2705097;27900361
Mode of inheritance for ANKRD11 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene ANKRD11 were set to 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
Phenotypes for ANKRD11 were set to 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
Phenotypes for gene ANKRD11 were set to 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
Phenotypes for gene ANKRD11 were set to 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
Phenotypes for ANKRD11 were set to KBG syndrome - orofacial clefting, intellectual disability, dental anomalies, dysmorphism; Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome; Orofacial Clefting with skeletal features
ANKRD11 was added to Cleftingpanel. Sources: UKGTN
ANKRD11 was created by oniblock