Skeletal dysplasia
Gene: ALX3
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 LesterCreated: 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
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: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 27 Jul 2016, 12:50 p.m.
Tier 1Created: 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
Added phenotypes Frontonasal dysplasia 1 136760 (frontorhiny) for gene: ALX3
Source NHS GMS was added to ALX3. 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 Amber List (Moderate Evidence).
Phenotypes for ALX3 were set to Frontonasal dysplasia 1 136760
Mode of inheritance for ALX3 was changed to BIALLELIC, autosomal or pseudoautosomal
ALX3 was added to Unexplained skeletal dysplasiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list
ALX3 was added to Unexplained skeletal dysplasiapanel. Sources:
ALX3 was created by sleigh