Skeletal dysplasia

Gene: ALX3

Green List (high evidence)

disorder is defined as 2 or more of the following: (1) true ocular hypertelorism; (2) broadening of the nasal root; (3) median facial cleft affecting the nose and/or upper lip and palate; (4) unilateral or bilateral clefting of the alae nasi; (5) lack of formation of the nasal tip; (6) anterior cranium bifidum occultum (see 168500); and (7) a V-shaped or widow's peak frontal hairline, Dysostoses with predominant craniofacial involvement gp of SD. Green - Features confined to skull - >3 cases. Do you report variants in this gene as part of your current diagnostic practice? YES - FMD; Review on behalf of Tracy Lester

Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Frontonasal dysplasia 1 136760 (frontorhiny)

Variants in this GENE are reported as part of current diagnostic practice

I don't know

Comment from Tracy Lester - ALX3 should stay on the skeletal dysplasia panel in the absence of a specific craniofacial panel. It is currently red on the Craniosynostosis panel (https://panelapp.genomicsengland.co.uk/panels/168/gene/ALX3/)

Created: 28 Nov 2019, 11:20 a.m. | Last Modified: 28 Nov 2019, 11:20 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: ALX3; Initial rating suggestion: green

Created: 6 Mar 2019, 11:36 a.m.

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported

Created: 27 Jul 2016, 12:50 p.m.

Green List (high evidence)

Tier 1

Created: 17 Jun 2016, 8:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Frontonasal dysplasia 1 136760

Variants in this GENE are reported as part of current diagnostic practice