Skeletal dysplasia
Gene: ALX4
Phenotypes listed under Cleidocranial dysplasia and related disorders gp of SD, and Dysostoses with predominant craniofacial involvement gp of SD. Three cases reported - 2 with same variant in consanguineous population - ? Related. Variant in cattle associated with skeletal abnomrality as well (brenig et al 2015). ? sufficient cases to be green. Do you report variants in this gene as part of your current diagnostic practice? YES - PF; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Frontonasal dysplasia 2 613451
Variants in this GENE are reported as part of current diagnostic practice
Comment from Tracy Lester - ALX4 should stay on the skeletal dysplasia panel in the absence of a specific craniofacial panel. It is currently green on the Craniosynostosis panel because GOF variants can have a craniosynostosis phenotype (https://panelapp.genomicsengland.co.uk/panels/168/gene/ALX4/).Created: 28 Nov 2019, 11:25 a.m. | Last Modified: 28 Nov 2019, 11:25 a.m.
Panel Version: 1.244
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: ALX4; Initial rating suggestion: GreenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least three variants reported in Frontonasal dysplasia 2 (613451)Created: 27 Jul 2016, 12:44 p.m.
Comment on phenotypes: Variants also reported in Parietal foramina 2 609597; {Craniosynostosis 5, susceptibility to} 615529Created: 27 Jul 2016, 12:42 p.m.
Comment on mode of inheritance: Frontonasal dysplasia 2 613451 (biallelic), Parietal foramina 2 609597 (monogenic), {Craniosynostosis 5, susceptibility to} 615529 (monogenic)Created: 27 Jul 2016, 12:41 p.m.
Tier 1Created: 17 Jun 2016, 8:01 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Frontonasal dysplasia 2 613451; Parietal foramina 2 609597; {Craniosynostosis 5, susceptibility to} 615529
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Frontonasal dysplasia 2 613451 for gene: ALX4
Source NHS GMS was added to ALX4. 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).
This gene has been classified as Green List (High Evidence).
Phenotypes for ALX4 were set to Frontonasal dysplasia 2 613451
Mode of inheritance for ALX4 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
ALX4 was created by sleigh
ALX4 was added to Unexplained skeletal dysplasiapanel. Sources: