Craniosynostosis
Gene: ALX4EnsemblGeneIds (GRCh38): ENSG00000052850
EnsemblGeneIds (GRCh37): ENSG00000052850
OMIM: 605420, Gene2Phenotype
ALX4 is in 11 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Craniosynostosis has been reported in 2 cases with monoallelic likely LoF variants and as a feature of a syndromic condition in 2 consanguineous families with homozygous LoF variants. 2 putative gain of function missense variants were identified in 2 probands with non-syndromic craniosynostosis, but were also identified in unaffected parents.
Sources: Expert listCreated: 3 Jun 2020, 5:51 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Frontonasal dysplasia 2 MIM#613451; Parietal foramina 2 MIM#609597
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Frontonasal dysplasia 2 MIM#613451
- Parietal foramina 2 MIM#609597
- OMIM
- 605420
- Clinvar variants
- Variants in ALX4
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: alx4 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: alx4 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ALX4 was added gene: ALX4 was added to Craniosynostosis. Sources: Expert list Mode of inheritance for gene: ALX4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ALX4 were set to 19692347; 29215649; 22829454 Phenotypes for gene: ALX4 were set to Frontonasal dysplasia 2 MIM#613451; Parietal foramina 2 MIM#609597 Review for gene: ALX4 was set to GREEN