CYB5R3

cytochrome b5 reductase 3
OMIM: 613213, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green CYB5R3 in Mendeliome Version 1.2302	1 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 1.63	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Methemoglobinemia MONDO:0001117
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	0 reviews	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	0 reviews	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 1.29	1 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 1.313	1 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 1.1566	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Methemoglobinaemia, type II (MIM# 250800)