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Retinal disorders

Gene: C8orf37

Green List (high evidence)

C8orf37 (chromosome 8 open reading frame 37)
EnsemblGeneIds (GRCh38): ENSG00000156172
EnsemblGeneIds (GRCh37): ENSG00000156172
OMIM: 614477, Gene2Phenotype
C8orf37 is in 13 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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Eye Disorders
  • Retinitis pigmentosa 64, 614500Cone-rod dystrophy 16, 614500
  • Retinitis pigmentosa
  • Retinitis Pigmentosa, Recessive
OMIM
614477
Clinvar variants
Variants in C8orf37
Penetrance
Complete
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 C8orf37. 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

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene C8orf37 was set to BIALLELIC, autosomal or pseudoautosomal

9 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

C8orf37 was created by ellenmcdonagh

9 Mar 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

C8orf37 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green