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Skeletal dysplasia

Gene: DLX5

Green List (high evidence)

DLX5 (distal-less homeobox 5)
EnsemblGeneIds (GRCh38): ENSG00000105880
EnsemblGeneIds (GRCh37): ENSG00000105880
OMIM: 600028, Gene2Phenotype
DLX5 is in 6 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

This gene is primarily monoallelic inheritance, many families reported. Biallelic inheritance has been rarely reported and seems to result in a more severe phenotype with deafness as well. Please update mode of inheritance to include monoallelic as well as biallelic, as a variant in this gene was almost missed because it was not in the tier 1 and 2. Thanks
Created: 8 Jul 2021, 1:43 p.m. | Last Modified: 8 Jul 2021, 1:43 p.m.
Panel Version: 2.106
Limb hypoplasia-reduction defects gp of SD. At least 3 cases reported. Possible AD case reported by Ullah et al 2016; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

Publications

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

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: DLX5; Initial rating suggestion: green for AR. Red for AD
Created: 6 Mar 2019, 11:36 a.m.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least three variants reported
Created: 28 Jul 2016, 9:19 a.m.

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Split-hand/foot malformation 1 with sensorineural hearing loss 220600
OMIM
600028
Clinvar variants
Variants in DLX5
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 Split-hand/foot malformation 1 with sensorineural hearing loss 220600 for gene: DLX5 Publications for gene DLX5 were changed from to 27085093

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to DLX5. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

28 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for DLX5 were set to Split-hand/foot malformation 1 with sensorineural hearing loss 220600

28 Jul 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for DLX5 was changed to BIALLELIC, autosomal or pseudoautosomal

28 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Jul 2016, Gel status: 0

Upload gene information

Sarah Leigh (Genomics England Curator)

DLX5 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

DLX5 was created by sleigh

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

DLX5 was added to Unexplained skeletal dysplasiapanel. Sources: