Skeletal dysplasia
Gene: DLX6
Limb hypoplasia-reduction defects gp of SD. Single family (2 cases) reported by ullah et al 2017.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Split-hand/foot malformation 1 183600
Publications
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: DLX6; Initial rating suggestion: amberCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Not associated with phenotype in OMIM nor G2P. No variants reported. Involvement of this gene in Split-hand/foot malformation 1 with sensorineural hearing loss 220600 implicated from animal studiesCreated: 28 Jul 2016, 9:32 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
Added phenotypes Split-hand/foot malformation 1 183600 for gene: DLX6 Publications for gene DLX6 were changed from to 28611547
Source NHS GMS was added to DLX6.
Promoted to version 1 9th August 2016
This gene has been classified as Red List (Low Evidence).
Phenotypes for DLX6 were set to Split-hand/foot malformation 1 with sensorineural hearing loss 220600
Mode of inheritance for DLX6 was changed to Unknown
DLX6 was added to Unexplained skeletal dysplasiapanel. Sources:
DLX6 was created by sleigh