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Retinal disorders

Gene: C2

Red List (low evidence)

C2 (complement C2)
EnsemblGeneIds (GRCh38): ENSG00000166278
EnsemblGeneIds (GRCh37): ENSG00000166278
OMIM: 613927, Gene2Phenotype
C2 is in 7 panels

1 review

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

Red List (low evidence)

AMD - justified to keep>?
Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Macular Degeneration
OMIM
613927
Clinvar variants
Variants in C2
Penetrance
Complete
Panels with this gene

History Filter Activity

3 Apr 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to C2.

9 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

C2 was created by ellenmcdonagh

9 Mar 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

C2 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red