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Fetal anomalies

Gene: CYB5R3

Amber List (moderate evidence)
CYB5R3 (cytochrome b5 reductase 3)
EnsemblGeneIds (GRCh38): ENSG00000100243
EnsemblGeneIds (GRCh37): ENSG00000100243
OMIM: 613213, Gene2Phenotype
CYB5R3 is in 4 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 21 Feb 2025, 12:58 p.m. | Last Modified: 21 Feb 2025, 12:58 p.m.
Panel Version: 5.76
Created: 21 Feb 2025, 12:58 p.m.
Last Modified: 21 Feb 2025, 12:58 p.m.
Panel version: 5.76

Elizabeth Wall (Birmingham Women's and Children's Hospital)

I don't know

Established cause of AR methemoglobinemia (>30 cases, some functional data). Postnatal phenotype: congenital hypoxia +- neurological deficits. Type 2 (more severe phenotype) caused by truncating variants or variants affecting catalytic domain. Type 1 (isolated congenital cyanosis) caused by missense variants. Fetal presentation plausible (HbF more susceptible to methemoglobinaemia, PMID: 34467556), but no adverse antenatal outcomes documented for this gene. Some AR congenital cases note normal pregnancy course.
Created: 21 Feb 2025, 12:56 p.m. | Last Modified: 21 Feb 2025, 12:56 p.m.
Panel Version: 5.75

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Methemoglobinemia, type II, MIM#250800

Publications

Created: 21 Feb 2025, 12:56 p.m.
Last Modified: 21 Feb 2025, 12:56 p.m.
Panel version: 5.75

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE
Created: 11 Dec 2018, 9:04 a.m.
Created: 11 Dec 2018, 9:04 a.m.

Panel version: 0.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Methemoglobinemia, type II, OMIM:250800
  • METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE
OMIM
613213
Clinvar variants
Variants in CYB5R3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2025, Gel status: 2

Added New Source, Set Phenotypes, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to CYB5R3. Added phenotypes Methemoglobinemia, type II, OMIM:250800 for gene: CYB5R3 Publications for gene: CYB5R3 were updated from to 34467556

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: CYB5R3 was added gene: CYB5R3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CYB5R3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYB5R3 were set to METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE