CYB5R3

Green CYB5R3 in Rare anaemia

Version 3.8
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• North West GLH
• Yorkshire and North East GLH
• London South GLH
• NHS GMS
• Expert Review Green
• Wessex and West Midlands GLH

Phenotypes

• Methaemoglobinaemia type I and II, 250800
• 250800 Methemoglobinemia
• 250800 Methaemoglobinaemia type I and II
• Methaemoglobinaemia

Amber CYB5R3 in Fetal anomalies

Version 4.1
Latest signed off version: v4.0 (1 May 2024)

Sources

• Expert Review Amber
• PAGE DD-Gene2Phenotype

Phenotypes

• METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE

Green CYB5R3 in DDG2P

Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Green
• DD-Gene2Phenotype

Phenotypes

• METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE 319395

Green CYB5R3 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.13
Latest signed off version: v6.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Victorian Clinical Genetics Services
• Expert Review Green
• Radboud University Medical Center, Nijmegen

Phenotypes

• Methemoglobinemia, type I, 250800Methemoglobinemia, type II, 250800
• METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE

Green CYB5R3 in Severe Paediatric Disorders

Version 1.184

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Methemoglobinemia, type I, 250800
• Methemoglobinemia, type II, 250800