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Structural eye disease

Gene: ALX1

Amber List (moderate evidence)

ALX1 (ALX homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000180318
EnsemblGeneIds (GRCh37): ENSG00000180318
OMIM: 601527, Gene2Phenotype
ALX1 is in 8 panels

2 reviews

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

I don't know

Uz reported two unrelated families, one with three siblings affected by frotonasal dysplasia including bilateral severe microphthalmia harbouring a 3.5mb homozygous deletion including ALX1 present in all three siblings and in heterozygous state in parents and another child with frontonasal dysplasia including bilateral microphthalmia harbouring a homozygous splice site variant present in heterozygous state in parents. Dee reported zebrafish model.
Created: 2 Oct 2019, 3:48 p.m. | Last Modified: 2 Oct 2019, 3:48 p.m.
Panel Version: 0.91

Publications

Mariya Moosajee (Moorfields Eye Hospital)

Green List (high evidence)

Phenotypes
Frontonasal Dysplasia 3, FND3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
  • London North GLH
Phenotypes
  • Frontonasal Dysplasia 3, FND3, 613456
OMIM
601527
Clinvar variants
Variants in ALX1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Oct 2019, Gel status: 2

Added New Source, Set publications

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ALX1. Publications for gene ALX1 were changed from to 20451171; 23059813

16 Sep 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: alx1 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: ALX1 was added gene: ALX1 was added to Structural eye disease. Sources: London North GLH Mode of inheritance for gene: ALX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALX1 were set to Frontonasal Dysplasia 3, FND3, 613456