Retinitis pigmentosa_Autosomal Recessive/X-linked
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 Retinitis Pigmentosa panel version 0.6

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

Retinitis pigmentosa_Autosomal Recessive/X-linked Gene: C8orf37