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Limb disorders

Gene: DLX5

Green List (high evidence)

DLX5 (distal-less homeobox 5)
EnsemblGeneIds (GRCh38): ENSG00000105880
EnsemblGeneIds (GRCh37): ENSG00000105880
OMIM: 600028, Gene2Phenotype
DLX5 is in 4 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Keep gene Green. From OMIM: split-hand/foot malformation-1 (SHFM1) represent a contiguous gene syndrome caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the DSS1 (new gene symbol SEM1), DLX5, and DLX6 genes and possible regulatory elements in the region. Evidence exists that SHFM1 can also be caused by heterozygous mutation in the DLX5 gene.
Created: 5 Apr 2018, 12:25 p.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
  • Expert list
  • Expert Review Green
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Split-hand/foot malformation 1 with sensorineural hearing loss, 220600
OMIM
600028
Clinvar variants
Variants in DLX5
Penetrance
None
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ana Beleza: Tier 2

5 Apr 2018, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

5 Apr 2018, Gel status: 4

Added New Source, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to DLX5. Panel: Limb disorders Expert list was added to DLX5. Panel: Limb disorders Model of inheritance for gene DLX5 was set to BIALLELIC, autosomal or pseudoautosomal

27 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

London South East RGC GSTT was added to DLX5. Panel: Limb disorders

17 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DLX5 was added to Limb disorders panel. Sources: Viapath

17 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

DLX5 was created by Ellen McDonagh