Retinitis pigmentosa_Autosomal Recessive/X-linked

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 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 7 families with retinal ciliopathy (RP, cone-rod dystrophy).
Created: 11 Jan 2020, 6:26 a.m. | Last Modified: 11 Jan 2020, 6:26 a.m.
Panel Version: 0.6

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 64, MIM#614500

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Retinitis pigmentosa 64, 614500
OMIM
614477
Clinvar variants
Variants in C8orf37
Penetrance
None
Panels with this gene

History Filter Activity

23 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: C8orf37 was added gene: C8orf37 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: C8orf37 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C8orf37 were set to Achromatopsia, Cone, and Cone-rod Dystrophy; Retinitis pigmentosa 64, 614500