Skeletal dysplasia
Gene: DLX6

DLX6 (distal-less homeobox 6)
EnsemblGeneIds (GRCh38): ENSG00000006377
EnsemblGeneIds (GRCh37): ENSG00000006377
OMIM: 600030, Gene2Phenotype
DLX6 is in 2 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

Limb hypoplasia-reduction defects gp of SD. Single family (2 cases) reported by ullah et al 2017.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Split-hand/foot malformation 1 183600

Publications

28611547

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: DLX6; Initial rating suggestion: amber
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: Not associated with phenotype in OMIM nor G2P. No variants reported. Involvement of this gene in Split-hand/foot malformation 1 with sensorineural hearing loss 220600 implicated from animal studies
Created: 28 Jul 2016, 9:32 a.m.

Created: 28 Jul 2016, 9:32 a.m.

Panel version: 0.820

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 2
Created: 17 Jun 2016, 8:03 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Split-hand/foot malformation 1 with sensorineural hearing loss 220600

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

Unknown

Sources

NHS GMS
Expert Review Red

Phenotypes

Split-hand/foot malformation 1 183600
Split-hand/foot malformation 1 with sensorineural hearing loss 220600

OMIM

600030

Clinvar variants

Variants in DLX6

Penetrance

Complete

Publications

28611547

Panels with this gene

History Filter Activity

6 May 2019, Gel status: 1

Set Phenotypes, Set publications

Eleanor Williams (Genomics England Curator)

Added phenotypes Split-hand/foot malformation 1 183600 for gene: DLX6 Publications for gene DLX6 were changed from to 28611547

6 Mar 2019, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to DLX6.

9 Aug 2016, Gel status: 1