PRPF4

pre-mRNA splicing tri-snRNP complex factor PRPF4
OMIM: 607795, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green PRPF4 in Mendeliome


Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Retinitis pigmentosa 70, MIM# 615922

Green PRPF4 in Retinitis pigmentosa


Level 2: Ophthalmological disorders
Version 1.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Retinitis pigmentosa 70, MIM# 615922