Growth failure
Gene: ANKRD11EnsemblGeneIds (GRCh38): ENSG00000167522
EnsemblGeneIds (GRCh37): ENSG00000167522
OMIM: 611192, Gene2Phenotype
ANKRD11 is in 11 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association, more than 100 families reported. Short stature is a key feature, in addition to variable ID, large central incisors and other dysmorphic features.Created: 6 Aug 2021, 12:06 a.m. | Last Modified: 6 Aug 2021, 12:06 a.m.
Panel Version: 0.6
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
KBG syndrome, MIM# 148050
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- Phenotypes
-
- KBG syndrome, MIM# 148050
- OMIM
- 611192
- Clinvar variants
- Variants in ANKRD11
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ankrd11 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ANKRD11 were changed from KBG syndrome, 148050; KBG to KBG syndrome, MIM# 148050
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ANKRD11 were set to 21782149
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 Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: ANKRD11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ANKRD11 were set to 21782149 Phenotypes for gene: ANKRD11 were set to KBG syndrome, 148050; KBG