Skeletal dysplasia
Gene: DLX3

DLX3 (distal-less homeobox 3)
EnsemblGeneIds (GRCh38): ENSG00000064195
EnsemblGeneIds (GRCh37): ENSG00000064195
OMIM: 600525, Gene2Phenotype
DLX3 is in 3 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Other sclerosing bone disorders gp of SD. At least 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
Amelogenesis imperfecta, type IV 104510; Trichodontoosseous syndrome 190320

Publications

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: DLX3; 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: At least three variants reported in this phenotype
Created: 11 Jul 2016, 1:18 p.m.

Created: 11 Jul 2016, 1:12 p.m.

Panel version: 0.438

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 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

Created: 17 Jun 2016, 8:03 a.m.

Panel version: 0.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

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

Phenotypes

Amelogenesis imperfecta, type IV 104510
Trichodontoosseous syndrome 190320

OMIM

600525

Clinvar variants

Variants in DLX3

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes, Set publications

Eleanor Williams (Genomics England Curator)

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

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to DLX3. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4