Limb disorders
Gene: DLX5EnsemblGeneIds (GRCh38): ENSG00000105880
EnsemblGeneIds (GRCh37): ENSG00000105880
OMIM: 600028, Gene2Phenotype
DLX5 is in 5 panels
5 reviews
Eleanor Williams (Genomics England Curator)
The 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
Ivone Leong (Genomics England Curator)
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
Louise Daugherty (Genomics England Curator)
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 reportedCreated: 28 Jul 2016, 9:19 a.m.
Ana Beleza (Bristol Regional Genetics Service)
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
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert list
- Expert Review Green
- London South East RGC GSTT
- Viapath
- Phenotypes
-
- ?Split-hand/foot malformation 1 with sensorineural hearing loss, OMIM:220600
- Split-hand/foot malformation 1, OMIM:183600
- OMIM
- 600028
- Clinvar variants
- Variants in DLX5
- Penetrance
- None
- Panels with this gene
History Filter Activity
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q3_21_MOI was removed from gene: DLX5.
Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)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
Set Phenotypes
Ivone Leong (Genomics England Curator)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
Added Tag
Ivone Leong (Genomics England Curator)Tag Q3_21_MOI tag was added to gene: DLX5.
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Ana Beleza: Tier 2
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for DLX5 were set to Split-hand/foot malformation 1 with sensorineural hearing loss, 220600
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
Added New Source
Ellen McDonagh (Genomics England Curator)London South East RGC GSTT was added to DLX5. Panel: Limb disorders
Added New Source
Ellen McDonagh (Genomics England Curator)DLX5 was added to Limb disorders panel. Sources: Viapath
Created
Ellen McDonagh (Genomics England Curator)DLX5 was created by Ellen McDonagh