Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: RD3

Green List (high evidence)

RD3 (retinal degeneration 3)
EnsemblGeneIds (GRCh38): ENSG00000198570
EnsemblGeneIds (GRCh37): ENSG00000198570
OMIM: 180040, Gene2Phenotype
RD3 is in 6 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Leber congenital amaurosis 12, 610612
OMIM
180040
Clinvar variants
Variants in RD3
Penetrance
None
Panels with this gene

History Filter Activity

23 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: RD3 was added gene: RD3 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: RD3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RD3 were set to Leber congenital amaurosis 12, 610612