Monogenic short stature
Gene: ANKRD11
ANKRD11 (ankyrin repeat domain 11)
EnsemblGeneIds (GRCh38): ENSG00000167522
EnsemblGeneIds (GRCh37): ENSG00000167522
OMIM: 611192, Gene2Phenotype
ANKRD11 is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000167522
EnsemblGeneIds (GRCh37): ENSG00000167522
OMIM: 611192, Gene2Phenotype
ANKRD11 is in 8 panels
2 reviews
Rebecca Foulger (Genomics England curator)
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that ANKRD11 should be included on the panel. Although most skeletal dysplasias are not included in this panel, KBG syndrome is a short stature condition in which skeletal features might be less prominent. Therefore kept rating as Green.Created: 30 May 2019, 9:34 a.m.
Ivone Leong (Genomics England Curator)
This gene is part of a consensus list for SRS/SRS-like testing provided by Frederic Brioude. Suggested initial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: KBG.Created: 14 May 2019, 1:25 p.m.
Phenotypes
KBG
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- KBG syndrome, OMIM:148050
- OMIM
- 611192
- Clinvar variants
- Variants in ANKRD11
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
26 Mar 2024, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: ANKRD11 was added gene: ANKRD11 was added to Monogenic short stature. Sources: Expert list,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, OMIM:148050