1. Panels
  2. Newborns main panel
  3. CYB561
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Newborns main panel

Gene: CYB561

Amber List (moderate evidence)
CYB561 (cytochrome b561)
EnsemblGeneIds (GRCh38): ENSG00000008283
EnsemblGeneIds (GRCh37): ENSG00000008283
OMIM: 600019, Gene2Phenotype
CYB561 is in 0 panels

1 review

Mafalda Gomes (Genomics England Curator)

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
PMID: 29343526 - 2 families. PMID: 31822578 - 1 case
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: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Orthostatic hypotension 2
OMIM
600019
Clinvar variants
Variants in CYB561
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to CYB561. Added phenotypes Orthostatic hypotension 2 for gene: CYB561 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to CYB561. Added phenotypes Orthostatic hypotension 2 for gene: CYB561 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to CYB561. Added phenotypes Orthostatic hypotension 2 for gene: CYB561 Rating Changed from No List (delete) to Amber List (moderate evidence)

9 Mar 2023, Gel status: 0

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Orthostatic hypotension 2 for gene: CYB561

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: CYB561 was added gene: CYB561 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: CYB561 was set to BIALLELIC, autosomal or pseudoautosomal