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Retinal disorders

Gene: C1QTNF5

Green List (high evidence)

C1QTNF5 (C1q and TNF related 5)
EnsemblGeneIds (GRCh38): ENSG00000223953
EnsemblGeneIds (GRCh37): ENSG00000223953
OMIM: 608752, Gene2Phenotype
C1QTNF5 is in 3 panels

2 reviews

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.
Created: 2 Jun 2016, 8:04 a.m.


Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Expert Review Green
  • Eye Disorders
  • Retinal Degeneration
  • Retinitis pigmentosa
  • Retinal degeneration, late-onset, autosomal dominant, 605670
Clinvar variants
Variants in C1QTNF5
Panels with this gene

History Filter Activity

3 Apr 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to C1QTNF5. Rating Changed from Green List (high evidence) to Green List (high evidence)

21 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Mar 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

C1QTNF5 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green

9 Mar 2016, Gel status: 0


Ellen McDonagh (Genomics England Curator)

C1QTNF5 was created by ellenmcdonagh