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  2. Macular Dystrophy/Stargardt Disease
  3. PRPH2
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Macular Dystrophy/Stargardt Disease

Gene: PRPH2

Green List (high evidence)
PRPH2 (peripherin 2)
EnsemblGeneIds (GRCh38): ENSG00000112619
EnsemblGeneIds (GRCh37): ENSG00000112619
OMIM: 179605, Gene2Phenotype
PRPH2 is in 5 panels

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Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Leber congenital amaurosis 18, MIM#608133
  • Macular dystrophy, vitelliform, 3, MIM#608161
  • Retinitis pigmentosa 7 and digenic form, MIM#608133
  • Choroidal dystrophy, central areolar 2, MIM#613105
  • Macular dystrophy, patterned, 1, MIM#169150
  • Retinitis punctata albescens, MIM#136880
OMIM
179605
Clinvar variants
Variants in PRPH2
Penetrance
None
Panels with this gene

History Filter Activity

30 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PRPH2 was added gene: PRPH2 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: PRPH2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PRPH2 were set to Leber congenital amaurosis 18, MIM#608133; Macular dystrophy, vitelliform, 3, MIM#608161; Retinitis pigmentosa 7 and digenic form, MIM#608133; Choroidal dystrophy, central areolar 2, MIM#613105; Macular dystrophy, patterned, 1, MIM#169150; Retinitis punctata albescens, MIM#136880