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  3. ALX1
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Clefting disorders

Gene: ALX1

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Phenotypes
Frontonasal dysplasia 3, MIM# 613456

Created: 10 Feb 2021, 4:51 a.m.
Last Modified: 10 Feb 2021, 4:51 a.m.
Panel version: 0.96

Tiong Tan (Victorian Clinical Genetics Services)

Green List (high evidence)

Comment on list classification: Mediocre reviewer
Created: 10 Feb 2021, 3:53 a.m. | Last Modified: 10 Feb 2021, 3:53 a.m.
Panel Version: 0.96
Multiple unrelated individuals with FND and severe facial clefting
Created: 10 Feb 2021, 12:43 a.m. | Last Modified: 10 Feb 2021, 12:43 a.m.
Panel Version: 0.95

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Frontonasal dysplasia; severe facial clefting

Publications

Created: 10 Feb 2021, 12:43 a.m.
Last Modified: 10 Feb 2021, 12:43 a.m.
Panel version: 0.95

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Frontonasal dysplasia 3, MIM#613456
  • severe facial clefting
OMIM
601527
Clinvar variants
Variants in ALX1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Feb 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ALX1 were changed from ?Frontonasal dysplasia 3, 613456 to Frontonasal dysplasia 3, MIM#613456; severe facial clefting

10 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Tiong Tan (Victorian Clinical Genetics Services)

Gene: alx1 has been classified as Green List (High Evidence).

10 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Tiong Tan (Victorian Clinical Genetics Services)

Gene: alx1 has been classified as Amber List (Moderate Evidence).

16 Sep 2020, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ALX1 was added gene: ALX1 was added to Clefting_GEL. Sources: Expert list,Expert Review Amber Mode of inheritance for gene: ALX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALX1 were set to 26610632; 20451171; 27324866 Phenotypes for gene: ALX1 were set to ?Frontonasal dysplasia 3, 613456