GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: ALX3

ALX3 (ALX homeobox 3)
EnsemblGeneIds (GRCh38): ENSG00000156150
EnsemblGeneIds (GRCh37): ENSG00000156150
OMIM: 606014, Gene2Phenotype
ALX3 is in 9 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

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, 11:52 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

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Frontonasal dysplasia 1 136760 (frontorhiny)

OMIM

606014

Clinvar variants

Variants in ALX3

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

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)

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: ALX3