Craniosynostosis

Gene: ALX1

Red List (low evidence)

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

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Two cases with disorder described - one had cranium bifidum. Red if strictly CSS. ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Phenotypes
Frontonasal dysplasia type 3

Eleanor Williams (Genomics England Curator)

I don't know

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: ALX1; Suggested initial gene rating: red
Created: 5 Mar 2019, 11:21 a.m.

Details

Sources
  • NHS GMS
Phenotypes
  • Frontonasal dysplasia type 3
OMIM
601527
Clinvar variants
Variants in ALX1
Penetrance
None
Panels with this gene

History Filter Activity

11 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Frontonasal dysplasia type 3 for gene: ALX1

5 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: ALX1 was added gene: ALX1 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: ALX1 was set to