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  3. C8orf37
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Renal ciliopathies

Gene: C8orf37

Red List (low evidence)
C8orf37 (chromosome 8 open reading frame 37)
EnsemblGeneIds (GRCh38): ENSG00000156172
EnsemblGeneIds (GRCh37): ENSG00000156172
OMIM: 614477, Gene2Phenotype
C8orf37 is in 12 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

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: 1.64
Created: 10 May 2022, 3:03 p.m.
Last Modified: 10 May 2022, 3:03 p.m.
Panel version: 1.64

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

Created: 11 May 2017, 9:09 a.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version 1.26

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Bardet-Biedl syndrome 21, 617406
Tags
new-gene-name
OMIM
614477
Clinvar variants
Variants in C8orf37
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 May 2022, Gel status: 1

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag new-gene-name tag was added to gene: C8orf37.

10 Jul 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: C8orf37 was added gene: C8orf37 was added to Renal 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