IMPG1

interphotoreceptor matrix proteoglycan 1
OMIM: 602870, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green IMPG1 in Mendeliome


Version 2.0

2 reviews BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Macular dystrophy, vitelliform, 4, OMIM:616151
  • Retinitis pigmentosa, MONDO:0019200
  • Retinitis pigmentosa 91, MIM# 153870

Amber IMPG1 in Retinitis pigmentosa


Level 2: Ophthalmological disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Retinitis pigmentosa, MONDO:0019200
  • Retinitis pigmentosa 91, MIM# 153870

Green IMPG1 in Macular Dystrophy/Stargardt Disease


Level 2: Ophthalmological disorders
Version 1.0

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Macular dystrophy, vitelliform, 4, OMIM:616151
  • Retinitis pigmentosa, MONDO:0019200