Limb disorders
Gene: DLX5The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 1:37 p.m. | Last Modified: 30 Jan 2023, 1:39 p.m.
Panel Version: 3.6
The MOI of this gene should be changed from "BIALLELIC, autosomal or pseudoautosomal" to "BOTH monoallelic and biallelic, autosomal or pseudoautosomal".Created: 17 Aug 2021, 10:53 a.m. | Last Modified: 17 Aug 2021, 10:53 a.m.
Panel Version: 2.49
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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 reportedCreated: 28 Jul 2016, 9:19 a.m.
Tier 2Created: 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
Tag Q3_21_MOI was removed from gene: DLX5.
Source NHS GMS was added to DLX5. Mode of inheritance for gene DLX5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: DLX5 were changed from Split-hand/foot malformation 1 with sensorineural hearing loss, 220600 to ?Split-hand/foot malformation 1 with sensorineural hearing loss, OMIM:220600; Split-hand/foot malformation 1, OMIM:183600
Tag Q3_21_MOI tag was added to gene: DLX5.
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