CYB5R3

cytochrome b5 reductase 3
OMIM: 613213, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green CYB5R3 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Methaemoglobinaemia, type I and II, MIM# 250800
Green CYB5R3 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	Unknown	Sources Genetic Health Queensland Expert Review Green
Green CYB5R3 in Haem degradation and bilirubin metabolism defects Level 2: Metabolic disorders Version 0.17 Component of the following Super Panels: Liverome Superpanel Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of haem degradation and bilirubin metabolism methemoglobinemia due to deficiency of methemoglobin reductase MONDO:0009606
Green CYB5R3 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Methemoglobinemia, type I, 250800 (3)
Green CYB5R3 in Red cell disorders Level 2: Haematological disorders Version 1.24	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Yorkshire and North East GLH NHS GMS Wessex and West Midlands GLH North West GLH London South GLH Phenotypes Methaemoglobinaemia, type I and II, MIM# 250800
Amber CYB5R3 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Methaemoglobinemia, type II, MIM# 250800
Green CYB5R3 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Methemoglobinemia, type I, 250800 (3)