Bardet Biedl syndrome
Gene: C8orf37Added new-gene-name tag, new approved HGNC gene symbol for C8orf37 is CFAP418Created: 10 May 2022, 3:02 p.m. | Last Modified: 10 May 2022, 3:02 p.m.
Panel Version: 1.13
Comment on list classification: This gene has been promoted from Red to Amber as there are 2 cases.Created: 9 Dec 2020, 4:16 p.m. | Last Modified: 9 Dec 2020, 4:16 p.m.
Panel Version: 1.7
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.
Gene: c8orf37 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: C8orf37 were changed from Bardet-Biedl syndrome 21, 617406; Cone-rod dystrophy 16; Retinitis pigmentosa 64, 614500 to Bardet-Biedl syndrome 21, OMIM:617406, MONDO:0044308; Cone-rod dystrophy 16, OMIM:614500, MONDO:0013786; Retinitis pigmentosa 64, OMIM:614500, MONDO:0019200
Source NHS GMS was added to C8orf37. Added phenotypes Bardet-Biedl syndrome 21, 617406; Cone-rod dystrophy 16; Retinitis pigmentosa 64, 614500 for gene: C8orf37 Publications for gene C8orf37 were changed from 26854863; 27008867 to 22177090; 27008867
gene: C8orf37 was added gene: C8orf37 was added to Bardet Biedl syndrome. Sources: 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