Skeletal dysplasia
Gene: DLX5The MOI of this gene should be changed from "BIALLELIC, autosomal or pseudoautosomal" to "BOTH monoallelic and biallelic, autosomal or pseudoautosomal".Created: 17 Aug 2021, 10:51 a.m. | Last Modified: 17 Aug 2021, 10:51 a.m.
Panel Version: 2.113
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene is primarily monoallelic inheritance, many families reported. Biallelic inheritance has been rarely reported and seems to result in a more severe phenotype with deafness as well. Please update mode of inheritance to include monoallelic as well as biallelic, as a variant in this gene was almost missed because it was not in the tier 1 and 2. ThanksCreated: 8 Jul 2021, 1:43 p.m. | Last Modified: 8 Jul 2021, 1:43 p.m.
Panel Version: 2.106
Limb hypoplasia-reduction defects gp of SD. At least 3 cases reported. Possible AD case reported by Ullah et al 2016; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Split-hand/foot malformation 1 with sensorineural hearing loss 220600
Publications
Variants in this GENE are reported as part of current diagnostic practice
The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.Created: 6 Mar 2022, 6:30 p.m. | Last Modified: 6 Mar 2022, 6:30 p.m.
Panel Version: 2.184
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: DLX5; Initial rating suggestion: green for AR. Red for ADCreated: 6 Mar 2019, 11:36 a.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. Tag Q3_21_NHS_review was removed from gene: DLX5.
Mode of inheritance for gene DLX5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Tag Q3_21_NHS_review tag was added to gene: DLX5.
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.
Added phenotypes Split-hand/foot malformation 1 with sensorineural hearing loss 220600 for gene: DLX5 Publications for gene DLX5 were changed from to 27085093
Source NHS GMS was added to DLX5. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for DLX5 were set to Split-hand/foot malformation 1 with sensorineural hearing loss 220600
Mode of inheritance for DLX5 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
DLX5 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list
DLX5 was added to Unexplained skeletal dysplasiapanel. Sources:
DLX5 was created by sleigh