Ophthalmological ciliopathies

Gene: C8orf37

Added new-gene-name tag, new approved HGNC gene symbol for C8orf37 is CFAP418

Created: 10 May 2022, 3:03 p.m. | Last Modified: 10 May 2022, 3:03 p.m.

Panel Version: 1.30

The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Created: 8 Mar 2022, 9:57 a.m. | Last Modified: 8 Mar 2022, 9:57 a.m.

Panel Version: 1.27

Comment on list classification: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be promoted to Green at the next review.

Created: 9 Dec 2020, 4:10 p.m. | Last Modified: 9 Dec 2020, 4:10 p.m.

Panel Version: 1.13

Green List (high evidence)

Two individuals reported with BBS phenotype (PMID 27008867; 26854863); at least 7 families with retinal ciliopathy (RP, cone-rod dystrophy) (PMID 22177090; 25113443; 26865426; 25802487)

Created: 21 May 2020, 4:28 a.m. | Last Modified: 21 May 2020, 4:28 a.m.

Panel Version: 1.4

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 21 617406; Cone-rod dystrophy 16 614500; Retinitis pigmentosa 64 614500

Publications

• 27008867
• 26854863
• 22177090
• 25113443
• 2686542625802487

Variants in this GENE are reported as part of current diagnostic practice

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

• 27008867
• 26854863