GMS Musculoskeletal specialist test group 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, 11:52 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
gene: ALX3 was added gene: ALX3 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ALX3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALX3 were set to Frontonasal dysplasia 1 136760 (frontorhiny)