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  3. RAX
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Anophthalmia or microphthalmia

Gene: RAX

Green List (high evidence)
RAX (retina and anterior neural fold homeobox)
EnsemblGeneIds (GRCh38): ENSG00000134438
EnsemblGeneIds (GRCh37): ENSG00000134438
OMIM: 601881, Gene2Phenotype
RAX is in 6 panels

2 reviews

David FitzPatrick (University of Edinburgh)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Known expert and lit evidence
Created: 10 May 2016, 12:17 p.m.
Created: 10 May 2016, 12:17 p.m.

Panel version: 0.43

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Microphthalmia, isolated 3, OMIM:611038
  • isolated microphthalmia 3, MONDO:0012604
OMIM
601881
Clinvar variants
Variants in RAX
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Sep 2022, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: RAX were changed from Microphthalmia, isolated 3, OMIM:611038; isolated microphthalmia 3, MONDO:0012604 to Microphthalmia, isolated 3, OMIM:611038; isolated microphthalmia 3, MONDO:0012604

22 Sep 2022, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: RAX were changed from Microphthalmia, isolated 3, OMIM:611038; isolated microphthalmia 3, MONDO:0012604 to Microphthalmia, isolated 3, OMIM:611038; isolated microphthalmia 3, MONDO:0012604

22 Sep 2022, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: RAX were changed from Anophthalmia/Microphthalmia to Microphthalmia, isolated 3, OMIM:611038; isolated microphthalmia 3, MONDO:0012604

22 Sep 2022, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: RAX were set to 30811539; 18783408; 14662654

22 Sep 2022, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: RAX were set to

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

RAX was added to Anophthalmia/microphthalmiapanel. Sources: Illumina TruGenome Clinical Sequencing Services