Inflammatory bowel disease
Gene: C17orf62EnsemblGeneIds (GRCh38): ENSG00000178927
EnsemblGeneIds (GRCh37): ENSG00000178927
C17orf62 is in 5 panels
1 review
Aimee Huynh (Queensland Health)
Homozygous LOF mutation leading to CYBC1 deficiency causes CGD in pair of Icelandic brothers and 6 other individuals - colitis an early feature. Brothers diagnosed with Crohn's at ages 7 and 9 years. 3 out of 6 other individuals also had colitis.
Sources: Expert ReviewCreated: 27 Mar 2023, 12:31 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Chronic granulomatous disease
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Chronic granulomatous disease
- Clinvar variants
- Variants in C17orf62
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: c17orf62 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: c17orf62 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Aimee Huynh (Queensland Health)gene: C17orf62 was added gene: C17orf62 was added to Inflammatory bowel disease. Sources: Expert Review Mode of inheritance for gene: C17orf62 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C17orf62 were set to 28600779, 30361506 Phenotypes for gene: C17orf62 were set to Chronic granulomatous disease Penetrance for gene: C17orf62 were set to unknown Review for gene: C17orf62 was set to AMBER gene: C17orf62 was marked as current diagnostic