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 1.42

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders

Green C1QTNF5 in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.285
Latest signed off version: v2.195 (5 Aug 2021)

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


Version 1.132
Latest signed off version: v1.3 (4 Mar 2020)

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