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 2.0

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 1.0

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 2.0

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 2.0

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 1.0

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 2.0

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 3.0

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