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Structural eye disease

Gene: ALX3

Red List (low evidence)

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

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

Among 11 families with frontonasal dysplasia and ALX3 variants Twigg et al reported one family with iris coloboma. The homozygous missense variant was heterozygous in both parents.ALX3 mice are phenotypically normal
Created: 2 Oct 2019, 3:48 p.m. | Last Modified: 2 Oct 2019, 3:48 p.m.
Panel Version: 0.91


Mariya Moosajee (Moorfields Eye Hospital)

Green List (high evidence)

Frontonasal Dysplasia 1, FND1


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Red
  • London North GLH
  • Frontonasal Dysplasia 1, FND1, 136760
Clinvar variants
Variants in ALX3
Panels with this gene

History Filter Activity

1 Oct 2019, Gel status: 1

Added New Source, Added New Source, Set publications, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ALX3. Source Expert Review Red was added to ALX3. Publications for gene ALX3 were changed from to 19409524 Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

16 Sep 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: alx3 has been classified as Amber List (Moderate Evidence).

23 Apr 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: ALX3 was added gene: ALX3 was added to Structural eye disease. Sources: London North GLH Mode of inheritance for gene: ALX3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALX3 were set to Frontonasal Dysplasia 1, FND1, 136760