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Clefting disorders

Gene: ALX3

Amber List (moderate evidence)

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

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

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ALX3 was added gene: ALX3 was added to Clefting_GEL. Sources: Expert Review Amber Mode of inheritance for gene: ALX3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALX3 were set to 19409524; 22106187; 19401770 Phenotypes for gene: ALX3 were set to FND1; Frontorhiny; FRONTONASAL DYSPLASIA 1