GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: ALX1

ALX1 (ALX homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000180318
EnsemblGeneIds (GRCh37): ENSG00000180318
OMIM: 601527, Gene2Phenotype
ALX1 is in 7 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Two cases with disorder described - one had cranium bifidum. Variant in cat has similar phenotype (Lyons et al 2016).Dysostoses with predominant craniofacial involvement gp of SD - AR.Sufficient cases to make green? Note added by AW - ALX1 no No skeletal (non-cranial) features described in Uz et al AJHG 10 or Ullah Clin Genet 17. Do you report variants in this gene as part of your current diagnostic practice? YES - FMD; Review on behalf of Tracy Lester/Andrew Wilkie
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Frontonasal dysplasia type 3 613456

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 Red
NHS GMS

Phenotypes

Frontonasal dysplasia type 3 613456

OMIM

601527

Clinvar variants

Variants in ALX1

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: ALX1 was added gene: ALX1 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: ALX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALX1 were set to Frontonasal dysplasia type 3 613456

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: ALX1