Ophthalmological 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: 1.30
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
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
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
Tag new-gene-name tag was added to gene: C8orf37.
Tag for-review was removed from gene: C8orf37.
Source Expert Review Green was added to C8orf37. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: c8orf37 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: C8orf37.
Publications for gene: C8orf37 were set to 26854863; 27008867
Phenotypes for gene: C8orf37 were changed from Bardet-Biedl syndrome 21, 617406 to Bardet-Biedl syndrome 21, OMIM:617406, MONDO:0044308; Cone-rod dystrophy 16, OMIM:614500, MONDO:0013786; Retinitis pigmentosa 64, OMIM:614500, MONDO:0019200
gene: C8orf37 was added gene: C8orf37 was added to Ophthalmological 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