Skeletal dysplasia
Gene: DLX3
Other sclerosing bone disorders gp of SD. At least 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
Amelogenesis imperfecta, type IV 104510; Trichodontoosseous syndrome 190320
Publications
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: DLX3; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: At least three variants reported in this phenotypeCreated: 11 Jul 2016, 1:18 p.m.
Tier 1Created: 17 Jun 2016, 8:03 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Amelogenesis imperfecta, type IV 104510; Trichodontoosseous syndrome 190320
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Amelogenesis imperfecta, type IV 104510; Trichodontoosseous syndrome 190320 for gene: DLX3 Publications for gene DLX3 were changed from 26762616; 26104267 to 26104267; 26762616
Source NHS GMS was added to DLX3. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Publications for DLX3 were set to 26762616; 26104267
This gene has been classified as Green List (High Evidence).
Phenotypes for DLX3 were set to Amelogenesis imperfecta, type IV 104510; Trichodontoosseous syndrome 190320
Mode of inheritance for DLX3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DLX3 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,UKGTN
DLX3 was added to Unexplained skeletal dysplasiapanel. Sources:
DLX3 was created by sleigh