Structural eye disease
Gene: RAX2

RAX2 (retina and anterior neural fold homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000173976
EnsemblGeneIds (GRCh37): ENSG00000173976
OMIM: 610362, Gene2Phenotype
RAX2 is in 3 panels

2 reviews

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

Red List (low evidence)

retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cone-rod dystrophy 11; Macular degeneration, age-related, 6; 610381; 613757

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cone-rod dystrophy 11, 610381; Macular degeneration, age-related, 6, 613757

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.48

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
Expert Review Red

Phenotypes

Macular degeneration, age-related, 6, 613757
Cone-rod dystrophy 11, 610381
Eye Disorders

OMIM

610362

Clinvar variants

Variants in RAX2

Penetrance

None

Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to RAX2. Mode of inheritance for gene RAX2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Macular degeneration, age-related, 6, 613757; Cone-rod dystrophy 11, 610381 for gene: RAX2

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: RAX2 was added gene: RAX2 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: RAX2 was set to Phenotypes for gene: RAX2 were set to Eye Disorders

Structural eye disease Gene: RAX2