Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: ALX1

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

Created: 5 Mar 2019, 11:33 a.m.

Panel version: 1.47

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.

Created: 5 Mar 2019, 11:21 a.m.

Panel version: 1.46

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

Rare syndromic craniosynostosis or isolated multisuture synostosis Gene: ALX1