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  2. Retinitis pigmentosa_Autosomal Recessive/X-linked
  3. RAX2
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Retinitis pigmentosa_Autosomal Recessive/X-linked

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)

6 individuals from 5 families reported.
Sources: Literature
Created: 26 Oct 2022, 8:12 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa-95 (RP95), MIM#620102

Publications

Created: 26 Oct 2022, 8:12 p.m.

Panel version: 0.129

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Retinitis pigmentosa-95 (RP95), MIM#620102
OMIM
610362
Clinvar variants
Variants in RAX2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Oct 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).

26 Oct 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).

26 Oct 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RAX2 was added gene: RAX2 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Literature Mode of inheritance for gene: RAX2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAX2 were set to 30607024 Phenotypes for gene: RAX2 were set to Retinitis pigmentosa-95 (RP95), MIM#620102 Review for gene: RAX2 was set to GREEN