Clefting disorders
Gene: ANKRD11
ANKRD11 (ankyrin repeat domain 11)
EnsemblGeneIds (GRCh38): ENSG00000167522
EnsemblGeneIds (GRCh37): ENSG00000167522
OMIM: 611192, Gene2Phenotype
ANKRD11 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000167522
EnsemblGeneIds (GRCh37): ENSG00000167522
OMIM: 611192, Gene2Phenotype
ANKRD11 is in 11 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert Review Green
- Phenotypes
-
- Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome
- Orofacial Clefting with skeletal features
- KBG syndrome,148050 (orofacial clefting, intellectual disability, dental anomalies, dysmorphism)
- OMIM
- 611192
- Clinvar variants
- Variants in ANKRD11
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
16 Sep 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ANKRD11 was added gene: ANKRD11 was added to Clefting_GEL. Sources: Expert Review Green,UKGTN,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: ANKRD11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ANKRD11 were set to 25838844; 2705097; 21782149; 27900361 Phenotypes for gene: ANKRD11 were set to Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome; Orofacial Clefting with skeletal features; KBG syndrome,148050 (orofacial clefting, intellectual disability, dental anomalies, dysmorphism)