Frontonasal dysplasia
Gene: ALX1EnsemblGeneIds (GRCh38): ENSG00000180318
EnsemblGeneIds (GRCh37): ENSG00000180318
OMIM: 601527, Gene2Phenotype
ALX1 is in 7 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Two families reported with balletic variants in this gene and frontonasal dysplasia, plus animal model.Created: 23 Nov 2019, 7:16 a.m. | Last Modified: 23 Nov 2019, 7:16 a.m.
Panel Version: 0.0
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Frontonasal dysplasia 3, MIM#613456
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Frontonasal dysplasia 3, MIM#613456
- OMIM
- 601527
- Clinvar variants
- Variants in ALX1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ALX1 were changed from to Frontonasal dysplasia 3, MIM#613456
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ALX1 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: ALX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: alx1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ALX1 was added gene: ALX1 was added to Frontonasal dysplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ALX1 was set to Unknown