GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: ALX4

ALX4 (ALX homeobox 4)
EnsemblGeneIds (GRCh38): ENSG00000052850
EnsemblGeneIds (GRCh37): ENSG00000052850
OMIM: 605420, Gene2Phenotype
ALX4 is in 5 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

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, 11:52 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

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

Panel version: 0.2

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Frontonasal dysplasia 2 613451

OMIM

605420

Clinvar variants

Variants in ALX4

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: ALX4 was added gene: ALX4 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ALX4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ALX4 were set to Frontonasal dysplasia 2 613451

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: ALX4