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Limb disorders

Gene: DLX6

Red List (low evidence)

DLX6 (distal-less homeobox 6)
EnsemblGeneIds (GRCh38): ENSG00000006377
EnsemblGeneIds (GRCh37): ENSG00000006377
OMIM: 600030, Gene2Phenotype
DLX6 is in 3 panels

4 reviews

Eleanor Williams (Genomics England Curator)

Red List (low evidence)

Ullah et al 2017 (PMID: 28611547) - 1 Pakistani family with mother and son with Split-hand and foot malformation type 1. A heterozygous missense variant (c.632T>A, p.Val211Glu) in the DLX6 gene was identified in the son but DNA from the mother was not available but the variant was not present in the other healthy family members, in 200 ethnically matched control individuals, 1000 Genomes (0.0%), Exome Aggregation Consortium (0.0%), and in the Human Gene Mutation Database.
Created: 18 Oct 2018, 1:59 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Split hand/foot malformation 1

Publications

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Added polygenic tag
Created: 5 Apr 2018, 12:23 p.m.
Keep gene Red. 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, 12:22 p.m.

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.

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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Split hand/foot malformation 1
Tags
polygenic
OMIM
600030
Clinvar variants
Variants in DLX6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 1

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ana Beleza: Tier 2

7 Nov 2018, Gel status: 1

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: dlx6 has been classified as Red List (Low Evidence).

7 Nov 2018, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

Source Expert Review Red was added to DLX6. Mode of inheritance for gene DLX6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Split hand/foot malformation 1 for gene: DLX6 Publications for gene DLX6 were changed from to 28611547

27 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

London South East RGC GSTT was added to DLX6. Panel: Limb disorders

17 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DLX6 was added to Limb disorders panel. Sources: Viapath

17 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

DLX6 was created by Ellen McDonagh