Bardet Biedl syndrome

Gene: C8orf37

Amber List (moderate evidence)

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

3 reviews

Ivone Leong (Genomics England Curator)

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

Tom Cullup (Great Ormond Street Hospital)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Bardet-Biedl syndrome 21, OMIM:617406, MONDO:0044308
  • Cone-rod dystrophy 16, OMIM:614500, MONDO:0013786
  • Retinitis pigmentosa 64, OMIM:614500, MONDO:0019200
OMIM
614477
Clinvar variants
Variants in C8orf37
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: c8orf37 has been classified as Amber List (Moderate Evidence).

9 Dec 2020, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

15 Mar 2019, Gel status: 1

Added New Source, Set Phenotypes, Set publications

Ivone Leong (Genomics England Curator)

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

19 Feb 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

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