CPAMD8

C3 and PZP like, alpha-2-macroglobulin domain containing 8
OMIM: 608841, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green CPAMD8 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.47

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Glaucoma
  • anterior segment dysgenesis 8, 617319
  • retinal detachment
  • cataract
Amber CPAMD8 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.158
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Anterior segment dysgenesis 8, OMIM:617319
Green CPAMD8 in DDG2P


Version 6.427
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Anterior Segment Dysgenesis
    Green CPAMD8 in Structural eye disease


    Level 2: Ophthalmology
    Version 4.40
    Latest signed off version: v4.0 (7 Aug 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Anterior segment dysgenesis 8, 617319