Skeletal dysplasia
Gene: ANKRD11
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 LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
KBG syndrome 148050
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: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 27 Jul 2016, 1:04 p.m.
Tier 2Created: 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
Added phenotypes KBG syndrome 148050 for gene: ANKRD11
Source NHS GMS was added to ANKRD11. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Mode of inheritance for ANKRD11 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
ANKRD11 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,UKGTN
Phenotypes for ANKRD11 were set to KBG syndrome 148050
This gene has been classified as Green List (High Evidence).
ANKRD11 was created by sleigh
ANKRD11 was added to Unexplained skeletal dysplasiapanel. Sources: