1. Panels
  2. Deafness_Isolated
  3. RDX
STRs in panel
Prev Next
Regions in panel
Prev Next

Deafness_Isolated

Gene: RDX

Green List (high evidence)
RDX (radixin)
EnsemblGeneIds (GRCh38): ENSG00000137710
EnsemblGeneIds (GRCh37): ENSG00000137710
OMIM: 179410, Gene2Phenotype
RDX is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Over 20 affected individuals reported, and a supportive mouse model. DEFINITIVE by ClinGen.
Created: 1 Oct 2020, 1:45 a.m. | Last Modified: 1 Oct 2020, 1:45 a.m.
Panel Version: 0.524

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 24, MIM# 611022

Publications

Created: 1 Oct 2020, 1:45 a.m.
Last Modified: 1 Oct 2020, 1:45 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.524

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal recessive 24, MIM# 611022
OMIM
179410
Clinvar variants
Variants in RDX
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RDX were changed from to Deafness, autosomal recessive 24, MIM# 611022

3 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RDX were set to

21 Jul 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RDX was added gene: RDX was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RDX was set to BIALLELIC, autosomal or pseudoautosomal