Renal ciliopathies

Gene: C8orf37

Red List (low evidence)

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

1 review

Rebecca Foulger (Genomics England curator)

In a 17-year-old girl with Bardet-Biedl syndrome (MIM:617406), Heon et al. (2016, PMID:27008867) identified homozygosity for a nonsense mutation in the C8ORF37 gene (K102X) that segregated fully with disease in the family.
Created: 11 May 2017, 9:09 a.m.
In a 6-year-old Saudi Arabian boy with Bardet-Biedl syndrome (MIM:617406), Khan et al. (2016, PMID:26854863) identified homozygosity for the R177W variant in C8ORF37.
Created: 11 May 2017, 9:09 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 21, 617406

Publications

History Filter Activity

10 Jul 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: C8orf37 was added gene: C8orf37 was added to Renal ciliopathies. Sources: Other,Expert Review Red Mode of inheritance for gene: C8orf37 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C8orf37 were set to 26854863; 27008867 Phenotypes for gene: C8orf37 were set to Bardet-Biedl syndrome 21, 617406