CHRDL1

chordin like 1
OMIM: 300350, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green CHRDL1 in Corneal Dystrophy


Level 2: Ophthalmological disorders
Version 1.10

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Megalocornea OMIM# 309300

Green CHRDL1 in Mendeliome


Version 1.1891

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Megalocornea OMIM# 309300

Red CHRDL1 in Fetal anomalies


Version 1.255

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Megalocornea 1, X-linked, MIM# 309300