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Fetal anomalies

Gene: ALX3

Green List (high evidence)

ALX3 (ALX homeobox 3)
EnsemblGeneIds (GRCh38): ENSG00000156150
EnsemblGeneIds (GRCh37): ENSG00000156150
OMIM: 606014, Gene2Phenotype
ALX3 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 28 Jan 2020, 10:05 a.m. | Last Modified: 3 Nov 2021, 8:51 p.m.
Panel Version: 0.120

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Frontonasal dysplasia 1, MIM#136760

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Frontonasal dysplasia 1, MIM#136760
OMIM
606014
Clinvar variants
Variants in ALX3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: alx3 has been classified as Green List (High Evidence).

3 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ALX3 were changed from FRONTONASAL DYSPLASIA TYPE 1 to Frontonasal dysplasia 1, MIM#136760

3 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ALX3 were set to

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ALX3 was added gene: ALX3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ALX3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALX3 were set to FRONTONASAL DYSPLASIA TYPE 1