CPAMD8

C3 and PZP like, alpha-2-macroglobulin domain containing 8
OMIM: 608841, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green CPAMD8 in Eye Anterior Segment Abnormalities


Level 2: Ophthalmological disorders
Version 1.20

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Anterior segment dysgenesis

Green CPAMD8 in Cataract


Level 2: Ophthalmological disorders
Version 0.631

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Anterior segment dysgenesis 8, MIM# 617319

Green CPAMD8 in Glaucoma congenital


Level 2: Ophthalmological disorders
Version 1.10

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Anterior segment dysgenesis 8, MIM# 617319

Green CPAMD8 in Mendeliome


Version 1.4559

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Anterior segment dysgenesis 8, MIM# 617319

Green CPAMD8 in Fetal anomalies


Version 1.543

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Anterior segment dysgenesis 8, MIM# 617319