C1QTNF5

C1q and TNF related 5
OMIM: 608752, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red C1QTNF5 in Glaucoma (developmental)

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

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders
Green C1QTNF5 in Retinal disorders


Level 2: Ophthalmology
Version 8.99
Latest signed off version: v8.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Eye Disorders
  • Retinal Degeneration
  • Retinitis pigmentosa
  • Retinal degeneration, late-onset, autosomal dominant, 605670
Red C1QTNF5 in Structural eye disease


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

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Retinal degeneration, late-onset, autosomal dominant, 605670
  • Eye Disorders