Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: GUCY2D

Green List (high evidence)

GUCY2D (guanylate cyclase 2D, retinal)
EnsemblGeneIds (GRCh38): ENSG00000132518
EnsemblGeneIds (GRCh37): ENSG00000132518
OMIM: 600179, Gene2Phenotype
GUCY2D is in 8 panels

0 reviews

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Cone-rod dystrophy 6 (AD)
  • Leber congenital amaurosis 1, 204000
  • Retinitis pigmentosa
OMIM
600179
Clinvar variants
Variants in GUCY2D
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: GUCY2D was added gene: GUCY2D was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: GUCY2D was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GUCY2D were set to Achromatopsia, Cone, and Cone-rod Dystrophy; Cone-rod dystrophy 6 (AD); Leber congenital amaurosis 1, 204000; Retinitis pigmentosa