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  3. C17orf62
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Chronic granulomatous disease

Gene: C17orf62

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: HGNC approved name: CYBC1
Created: 24 Jul 2021, 7:01 a.m. | Last Modified: 24 Jul 2021, 7:01 a.m.
Panel Version: 0.17
Created: 24 Jul 2021, 7:01 a.m.
Last Modified: 24 Jul 2021, 7:01 a.m.
Panel version: 0.17

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: 0.7

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Chronic granulomatous disease
Tags
new gene name
Clinvar variants
Variants in C17orf62
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: c17orf62 has been classified as Green List (High Evidence).

24 Jul 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag new gene name tag was added to gene: C17orf62.

2 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: c17orf62 has been classified as Green List (High Evidence).

1 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: c17orf62 has been classified as Green List (High Evidence).

1 Jun 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: C17orf62 was added gene: C17orf62 was added to Chronic granulomatous disease. Sources: Expert list Mode of inheritance for gene: C17orf62 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C17orf62 were set to 30361506; 30312704 Phenotypes for gene: C17orf62 were set to Chronic granulomatous disease