Skeletal dysplasia
Gene: ANKRD11

ANKRD11 (ankyrin repeat domain 11)
EnsemblGeneIds (GRCh38): ENSG00000167522
EnsemblGeneIds (GRCh37): ENSG00000167522
OMIM: 611192, Gene2Phenotype
ANKRD11 is in 8 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Neither gene nor KBG listed in the SD nosology paper. KBG syndrome is characterized by macrodontia of the upper central incisors, distinctive craniofacial findings, short stature, skeletal anomalies, and neurologic involvement. >3 cases reported.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
KBG syndrome 148050

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: ANKRD11; Initial rating suggestion: green
Created: 6 Mar 2019, 11:36 a.m.

Created: 6 Mar 2019, 11:36 a.m.

Panel version: 1.146

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported
Created: 27 Jul 2016, 1:04 p.m.

Created: 27 Jul 2016, 1:04 p.m.

Panel version: 0.732

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 2
Created: 17 Jun 2016, 8:01 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
KBG syndrome 148050

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Jun 2016, 8:01 a.m.

Panel version: 0.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
Expert Review Green
Expert list
UKGTN
Radboud University Medical Center, Nijmegen

Phenotypes

KBG syndrome 148050

OMIM

611192

Clinvar variants

Variants in ANKRD11

Penetrance

Complete

Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes KBG syndrome 148050 for gene: ANKRD11

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to ANKRD11. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4