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Clefting disorders
Gene: ALX3

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Frontonasal dysplasia 1, MIM# 136760

Created: 10 Feb 2021, 4:52 a.m.
Last Modified: 10 Feb 2021, 4:52 a.m.
Panel version: 0.97

Tiong Tan (Victorian Clinical Genetics Services)

I don't know

Primary phenotype associated with ALX3 is that of frontorhiny. Median cleft palate has been reported in two siblings from one family and median cleft lip in an unrelated individual.
Created: 10 Feb 2021, 12:51 a.m. | Last Modified: 10 Feb 2021, 12:51 a.m.

Panel Version: 0.95

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Frontorhiny

Publications

Created: 10 Feb 2021, 12:51 a.m.
Last Modified: 10 Feb 2021, 12:51 a.m.
Panel version: 0.95

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber

Phenotypes

Frontonasal dysplasia 1, MIM# 136760
Frontorhiny

OMIM

606014

Clinvar variants

Variants in ALX3

Penetrance

None

Publications

Panels with this gene

History Filter Activity

10 Feb 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ALX3 were changed from FND1; Frontorhiny; FRONTONASAL DYSPLASIA 1 to Frontonasal dysplasia 1, MIM# 136760; Frontorhiny

10 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Tiong Tan (Victorian Clinical Genetics Services)

Gene: alx3 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