Skeletal ciliopathies
Gene: C8orf37Added new-gene-name tag, new approved HGNC gene symbol for C8orf37 is CFAP418Created: 10 May 2022, 3:03 p.m. | Last Modified: 10 May 2022, 3:03 p.m.
Panel Version: 1.17
Comment on list classification: Removing from the skeletal ciliopathies panel as it is covered by the Bardet Biedl syndrome panel (panel ID: 543)Created: 28 Nov 2019, 3:29 p.m. | Last Modified: 28 Nov 2019, 3:29 p.m.
Panel Version: 0.32
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
Tag new-gene-name tag was added to gene: C8orf37.
Tag curated_removed tag was added to gene: C8orf37.
Gene: c8orf37 has been removed from the panel.
gene: C8orf37 was added gene: C8orf37 was added to Skeletal 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