Skeletal dysplasia

Gene: ALX4

Green List (high evidence)

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 Lester

Created: 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

I don't know

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: Green

Created: 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} 615529

Created: 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.

Green List (high evidence)

Tier 1

Created: 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