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Cone-rod Dystrophy

Gene: RAX2

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID 30607024: 5 unrelated families with bi-allelic variants and retinal disease.

Several families reported with mono-allelic variants, however note some of the variants are present in gnomad at high frequency.
Created: 24 Apr 2022, 7:42 a.m. | Last Modified: 24 Apr 2022, 7:42 a.m.
Panel Version: 0.41

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Cone-rod dystrophy 11, MIM# 610381

Publications

Created: 24 Apr 2022, 7:42 a.m.
Last Modified: 24 Apr 2022, 7:42 a.m.
Panel version: 0.41

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cone-rod dystrophy 11, MIM# 610381
OMIM
610362
Clinvar variants
Variants in RAX2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rax2 has been classified as Green List (High Evidence).

24 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RAX2 were changed from Cone-rod dystrophy 11 to Cone-rod dystrophy 11, MIM# 610381

24 Apr 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RAX2 were set to 30679166

24 Apr 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RAX2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

19 May 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: RAX2 was added gene: RAX2 was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: RAX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RAX2 were set to 30679166 Phenotypes for gene: RAX2 were set to Cone-rod dystrophy 11