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Structural eye disease

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

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

Green List (high evidence)

Chassaing et al. 2014 reported four unrelated families, others have been published
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Anophthalmia/Microphthalmia

Publications

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Chassaing et al. 2014 reported four unrelated families, others have been published
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Anophthalmia/Microphthalmia

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Anophthalmia/Microphthalmia
OMIM
601881
Clinvar variants
Variants in RAX
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 4

Added New Source, Set Phenotypes, Set publications

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to RAX. Added phenotypes Anophthalmia/Microphthalmia for gene: RAX Publications for gene RAX were changed from to 24033328; 14662654; 18783408

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: RAX was added gene: RAX was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: RAX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAX were set to Anophthalmia/Microphthalmia