Cone-rod Dystrophy
Gene: C8orf37

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

Created: 11 Jan 2020, 6:26 a.m.
Last Modified: 11 Jan 2020, 6:26 a.m.
Panel version: Imported from Retinal Disorders panel version Imported from Retinitis Pigmentosa panel version 0.6

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital
Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Cone-rod dystrophy 16, 614500
Retinitis pigmentosa 64, 614500

OMIM

614477

Clinvar variants

Variants in C8orf37

Penetrance

None

Publications

30679166

Panels with this gene

History Filter Activity

19 May 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: C8orf37 was added gene: C8orf37 was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: C8orf37 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C8orf37 were set to 30679166 Phenotypes for gene: C8orf37 were set to Cone-rod dystrophy 16, 614500; Retinitis pigmentosa 64, 614500

Cone-rod Dystrophy Gene: C8orf37