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Newborns main panel

Gene: C17orf62

Green List (high evidence)
C17orf62 (chromosome 17 open reading frame 62)
EnsemblGeneIds (GRCh38): ENSG00000178927
EnsemblGeneIds (GRCh37): ENSG00000178927
C17orf62 is in 2 panels

1 review

Mafalda Gomes (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for C17orf62 is CYBC1
Created: 25 Oct 2023, 9:01 a.m. | Last Modified: 25 Oct 2023, 9:01 a.m.
Panel Version: 0.250
The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
Hematologically important mutations: The autosomal forms of chronic granulomatous disease (third update) - PubMed (nih.gov) 8 families, (7 icelandic families with the same founder variant). PMID: 37055004 - additional case and review previous 9 cases
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.250

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Chronic granulomatous disease 5
Tags
new-gene-name
Clinvar variants
Variants in C17orf62
Penetrance
None
Panels with this gene

History Filter Activity

25 Oct 2023, Gel status: 3

Added Tag

Mafalda Gomes (Genomics England Curator)

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

25 Oct 2023, Gel status: 3

Removed Tag, Removed Tag

Mafalda Gomes (Genomics England Curator)

Tag different_gene_name was removed from gene: C17orf62. Tag CYBC1 was removed from gene: C17orf62.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Chronic granulomatous disease 5 for gene: C17orf62

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Chronic granulomatous disease 5 for gene: C17orf62

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Chronic granulomatous disease 5 for gene: C17orf62

15 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to C17orf62. Added phenotypes Chronic granulomatous disease 5 for gene: C17orf62 Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to C17orf62. Rating Changed from Amber List (moderate evidence) to No List (delete)

27 Mar 2023, Gel status: 2

Added Tag, Added Tag

Mafalda Gomes (Genomics England Curator)

Tag different_gene_name tag was added to gene: C17orf62. Tag CYBC1 tag was added to gene: C17orf62.

9 Mar 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Chronic granulomatous disease 5 for gene: C17orf62

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: C17orf62 was added gene: C17orf62 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: C17orf62 was set to BIALLELIC, autosomal or pseudoautosomal