Limb disordersGene: DLX6
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
Split hand/foot malformation 1
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.
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: 17 Jun 2016, 8:03 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Split-hand/foot malformation 1 with sensorineural hearing loss 220600
Variants in this GENE are reported as part of current diagnostic practice
Ana Beleza: Tier 2
Gene: dlx6 has been classified as Red List (Low Evidence).
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
London South East RGC GSTT was added to DLX6. Panel: Limb disorders
DLX6 was added to Limb disorders panel. Sources: Viapath
DLX6 was created by Ellen McDonagh