Hand and foot malformations
Gene: DLX6EnsemblGeneIds (GRCh38): ENSG00000006377
EnsemblGeneIds (GRCh37): ENSG00000006377
OMIM: 600030, Gene2Phenotype
DLX6 is in 2 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
A single family has been reported segregating a missense variant. Large deletions involving both DLX5 and DLX6 are present in SHFM cases.Created: 22 Sep 2021, 3:48 a.m. | Last Modified: 22 Sep 2021, 3:48 a.m.
Panel Version: 0.8
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Split-hand and foot malformation (SHFM; MIM 183600)
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- Split-hand/foot malformation 1 183600
- OMIM
- 600030
- Clinvar variants
- Variants in DLX6
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: dlx6 has been classified as Red List (Low Evidence).
Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)Phenotypes for gene: DLX6 were changed from Split-hand/foot malformation 1 183600; Split-hand/foot malformation 1 with sensorineural hearing loss 220600 to Split-hand/foot malformation 1 183600
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: DLX6 were set to
Set mode of inheritance
Bryony Thompson (Royal Melbourne Hospital)Mode of inheritance for gene: DLX6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: DLX6 was added gene: DLX6 was added to Hand and foot malformation. Sources: Expert list Mode of inheritance for gene: DLX6 was set to Unknown Phenotypes for gene: DLX6 were set to Split-hand/foot malformation 1 183600; Split-hand/foot malformation 1 with sensorineural hearing loss 220600