Limb disordersGene: DLX5
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.
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.
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
Phenotypes for DLX5 were set to Split-hand/foot malformation 1 with sensorineural hearing loss, 220600
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
London South East RGC GSTT was added to DLX5. Panel: Limb disorders
DLX5 was added to Limb disorders panel. Sources: Viapath
DLX5 was created by Ellen McDonagh