Phagocyte Defects
Gene: C17orf62

C17orf62 (chromosome 17 open reading frame 62)
EnsemblGeneIds (GRCh38): ENSG00000178927
EnsemblGeneIds (GRCh37): ENSG00000178927
C17orf62 is in 5 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

8 cases from 7 Icelandic families were homozygous for p.Tyr2Ter with chronic granulomatous disease (CGD), and another homozygous case with a missense variant from Saudi Arabia with a phenotype suggestive of CGD. A null mouse model also showed a susceptibility to infection.
Created: 1 Jun 2020, 2:40 a.m. | Last Modified: 1 Jun 2020, 2:40 a.m.

Panel Version: 0.6

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Chronic granulomatous disease

Publications

Created: 1 Jun 2020, 2:40 a.m.
Last Modified: 1 Jun 2020, 2:40 a.m.
Panel version: Imported from Chronic granulomatous disease panel version 0.7

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Seven Icelandic families reported with same homozygous variant, p.Tyr2Ter and an additional family from different ethnic background with different homozygous splice site variant. Functional data, including mouse model. Gene also known as EROS and CYBC1 (HGNC approved name).
Sources: Expert list
Created: 5 Apr 2020, 5:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Chronic granulomatous disease 5, autosomal recessive, MIM# 618935

Publications

Created: 5 Apr 2020, 5:49 a.m.

Panel version: 0.37

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert list
Expert Review Green
Expert list

Phenotypes

Chronic granulomatous disease 5, autosomal recessive, MIM# 618935

Tags

new gene name

Clinvar variants

Variants in C17orf62

Penetrance

None

Publications

Panels with this gene