Ciliopathies
Gene: C8orf37EnsemblGeneIds (GRCh38): ENSG00000156172
EnsemblGeneIds (GRCh37): ENSG00000156172
OMIM: 614477, Gene2Phenotype
C8orf37 is in 10 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Two individuals reported with BBS phenotype; at least 7 families with retinal ciliopathy (RP, cone-rod dystrophy)
Sources: Expert listCreated: 11 Jan 2020, 6:24 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome 21, MIM#617406; Retinitis pigmentosa 64, MIM#614500
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Bardet-Biedl syndrome 21, MIM#617406
- Retinitis pigmentosa 64, MIM#614500
- OMIM
- 614477
- Clinvar variants
- Variants in C8orf37
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: c8orf37 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: c8orf37 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: C8orf37 was added gene: C8orf37 was added to Ciliopathies_VCGS. Sources: Expert list Mode of inheritance for gene: C8orf37 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C8orf37 were set to 27008867; 26854863; 22177090; 25113443; 26865426; 25802487 Phenotypes for gene: C8orf37 were set to Bardet-Biedl syndrome 21, MIM#617406; Retinitis pigmentosa 64, MIM#614500 Review for gene: C8orf37 was set to GREEN