Entity Name	Entity type	Gene Symbol	Sources(; separated)	Level4	Level3	Level2	Model_Of_Inheritance	Phenotypes	Omim	Orphanet	HPO	Publications	Description	Flagged	GEL_Status	UserRatings_Green_amber_red	version	ready	Mode of pathogenicity	EnsemblId(GRch37)	EnsemblId(GRch38)	HGNC	Position Chromosome	Position GRCh37 Start	Position GRCh37 End	Position GRCh38 Start	Position GRCh38 End	STR Repeated Sequence	STR Normal Repeats	STR Pathogenic Repeats	Region Haploinsufficiency Score	Region Triplosensitivity Score	Region Required Overlap Percentage	Region Variant Type	Region Verbose Name
HBA1	gene	HBA1	Expert Review Green;NHS GMS	Sickle cell, thalassaemia and other haemoglobinopathies		Haematology	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Heinz body anemias, alpha-, OMIM:140700;Thalassemias, alpha-, OMIM:604131;Hemoglobin H disease, nondeletional, OMIM:613978;Methemoglobinemia, alpha type, OMIM:617973;Erythrocytosis, familial, 7, OMIM:617981;HBA1-related alpha thalassemia spectrum, MONDO:0100561;methemoglobinemia, alpha type, MONDO:0020835						False	3	100;0;0	2.9	False		ENSG00000206172	ENSG00000206172	HGNC:4823													
HBA2	gene	HBA2	Expert Review Green;NHS GMS	Sickle cell, thalassaemia and other haemoglobinopathies		Haematology	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Heinz body anemias, alpha-, OMIM:140700;Thalassemias, alpha-, OMIM:604131;Hemoglobin H disease, deletional and nondeletional, OMIM:613978;Erythrocytosis, familial, 7, OMIM:617981;HBA2-related alpha thalassemia spectrum, MONDO:0100562						False	3	100;0;0	2.9	False		ENSG00000188536	ENSG00000188536	HGNC:4824													
HBB	gene	HBB	Expert Review Green;NHS GMS	Sickle cell, thalassaemia and other haemoglobinopathies		Haematology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Heinz body anemia, OMIM:140700;Delta-beta thalassemia, OMIM:141749;Hereditary persistence of fetal hemoglobin, OMIM:141749;Thalassemia-beta, dominant inclusion-body, OMIM:603902;Sickle cell disease, OMIM:603903;Thalassemia, beta, OMIM:613985;Methemoglobinemia, beta type, OMIM:617971;Erythrocytosis, familial, 6, OMIM:617980;dominant beta-thalassemia, MONDO:0011381;sickle cell disease, MONDO:0011382;beta-thalassemia HBB/LCRB, MONDO:0013517;hemoglobin M disease, MONDO:0018023;erythrocytosis, familial, 6, MONDO:0054801						False	3	100;0;0	2.9	False		ENSG00000244734	ENSG00000244734	HGNC:4827													
HBG1	gene	HBG1	Expert Review Green;NHS GMS	Sickle cell, thalassaemia and other haemoglobinopathies		Haematology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Fetal hemoglobin quantitative trait locus 1, OMIM:141749						False	3	100;0;0	2.9	False		ENSG00000213934	ENSG00000213934	HGNC:4831													
HBG2	gene	HBG2	Expert Review Green;NHS GMS	Sickle cell, thalassaemia and other haemoglobinopathies		Haematology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Fetal hemoglobin quantitative trait locus 1, OMIM:141749;Cyanosis, transient neonatal, OMIM:613977;cyanosis, transient neonatal, MONDO:0013511						False	3	100;0;0	2.9	False		ENSG00000196565	ENSG00000196565	HGNC:4832