HBB

hemoglobin subunit beta
OMIM: 141900, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green HBB in Mendeliome Version 1.2302	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Delta-beta thalassemia 141749 Erythrocytosis 6 617980 Heinz body anemia 140700 Hereditary persistence of fetal hemoglobin 141749 Methemoglobinemia, beta type 617971 Sickle cell anemia 603903 Thalassemia-beta, dominant inclusion-body 603902 Thalassemia, beta 613985
Green HBB 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 Thalassemias, beta-, 613985 (3)
Green HBB in Stroke Level 2: Neurology and neurodevelopmental disorders Version 1.16	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Sickle cell anemia MIM#603903 Tags SV/CNV
Amber HBB in Cerebral vascular malformations Level 2: Neurology and neurodevelopmental disorders Version 1.0 Component of the following Super Panels: Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Genomics England PanelApp Expert Review Amber Phenotypes Sickle cell anemia 603903
Green HBB in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Beta-thalassemia
Green HBB in Red cell disorders Level 2: Haematological disorders Version 1.29	1 review	BOTH monoallelic and 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 Thalassemia, beta, MIM# 613985 Sickle cell anaemia, MIM# 603903 Methaemoglobinaemia, beta type, MIM# 617971 Hereditary persistence of fetal haemoglobin, MIM# 141749 Heinz body anaemia, MIM# 140700 Erythrocytosis 6, MIM# 617980
Green HBB in Prepair 1000+ Level 2: Screening Version 1.1566	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Thalassemias, beta-, 613985 (3)
Green HBB in BabyScreen+ newborn screening Level 2: Screening Version 1.116	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Sickle cell anaemia, MIM# 603903 Tags treatable haematological
Green HBB in Prepair 500+ Level 2: Screening Version 1.5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Thalassemias, beta-, 613985 (3)