FZD5:Ensemblv90

frizzled class receptor 5
OMIM: 601723, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green FZD5 in Anophthalmia_Microphthalmia_Coloboma


Level 2: Ophthalmological disorders
Version 1.53

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Microphthalmia/coloboma 11, MIM# 620731

Green FZD5 in Mendeliome


Version 1.3802

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Microphthalmia/coloboma 11, MIM# 620731

Amber FZD5 in Fetal anomalies


Version 1.482

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Genomics England PanelApp
  • Literature
Phenotypes
  • Microphthalmia/coloboma 11, MIM# 620731

Green FZD5 in Anophthalmia_Microphthalmia_Coloboma


Level 2: Ophthalmological disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Microphthalmia/coloboma 11, MIM# 620731