HBA1

hemoglobin subunit alpha 1
OMIM: 141800, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green HBA1 in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.313	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Thalassemias, alpha- , MIM#604131 Tags SV/CNV
Green HBA1 in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Erythrocytosis 7, MIM# 617981 Heinz body anemias, alpha-, MIM# 140700 Methemoglobinemia, alpha type , MIM#617973 Thalassemias, alpha-, MIM# 604131 Hemoglobin H disease, nondeletional, MIM# 613978 Tags SV/CNV
Green HBA1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Thalassaemia alpha
Green HBA1 in Red cell disorders Level 2: Haematological disorders Version 1.24	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 Thalassemias, alpha-, MIM# 604131 Heinz body anemias, alpha-, MIM# 140700 Erythrocytosis 7, MIM# 617981
Green HBA1 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert Review Green Victorian Clinical Genetics Services Phenotypes Thalassaemia, alpha-, 604131 Fetal hydrops
Red HBA1 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Erythrocytosis 7, MIM# 617981 Heinz body anemias, alpha-, MIM# 140700 Methemoglobinemia, alpha type , MIM#617973 Thalassemias, alpha-, MIM# 604131 Hemoglobin H disease, nondeletional, MIM# 613978
Amber HBA1 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BabySeq Category A gene BeginNGS Phenotypes Thalassaemia alpha, MIM#604131 Tags treatable haematological technically challenging