MFRP

membrane frizzled-related protein
OMIM: 606227, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green MFRP in Anophthalmia_Microphthalmia_Coloboma


Level 2: Ophthalmological disorders
Version 1.57

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microphthalmia, isolated 5, MIM# 611040

Amber MFRP in Cataract


Level 2: Ophthalmological disorders
Version 0.631

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Microphthalmia, isolated 5, MIM# 611040

Amber MFRP in Glaucoma congenital


Level 2: Ophthalmological disorders
Version 1.10

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Microphthalmia, isolated 5, MIM# 611040

Green MFRP in Mendeliome


Version 1.4541

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microphthalmia, isolated 5, MIM# 611040

Green MFRP in Retinitis pigmentosa


Level 2: Ophthalmological disorders
Version 0.242

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • 0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen

    Red MFRP in Fetal anomalies


    Version 1.542

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Microphthalmia, isolated 5, MIM# 611040

    Green MFRP in Prepair 1000+


    Level 2: Screening
    Version 2.15

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Microphthalmia, isolated 5, MIM# 611040