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
ATRX	gene	ATRX	Expert Review Red;London South GLH;NHS GMS	Rare anaemia		Haematology	X-LINKED: hemizygous mutation in males, biallelic mutations in females	301040 Alpha-thalassemia/mental retardation syndrome				11449489;17579672;19444090		False	1	50;50;0	3.23	False		ENSG00000085224	ENSG00000085224	HGNC:886													
COX4I2	gene	COX4I2	Expert Review Red;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH	Rare anaemia		Haematology	BIALLELIC, autosomal or pseudoautosomal	612714 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis;Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714;612714 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis;Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, andCalvarial Hyperostosis;Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis;Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis				19268275		False	1	17;67;17	3.23	False		ENSG00000131055	ENSG00000131055	HGNC:16232													
CYB5A	gene	CYB5A	Expert Review Red;London South GLH;NHS GMS	Rare anaemia		Haematology	BIALLELIC, autosomal or pseudoautosomal	250790 Methemoglobinemia and ambiguous genitalia				8168836;20080843		False	1	0;50;50	3.23	False		ENSG00000166347	ENSG00000166347	HGNC:2570													
DKC1	gene	DKC1	Expert Review Red;NHS GMS;Yorkshire and North East GLH	Rare anaemia		Haematology	X-LINKED: hemizygous mutation in males, biallelic mutations in females	305000 Dyskeratosis congenita, X-linked						False	1	50;50;0	3.23	False		ENSG00000130826	ENSG00000130826	HGNC:2890													
FTCD	gene	FTCD	Expert Review Red;London South GLH;NHS GMS	Rare anaemia		Haematology	BIALLELIC, autosomal or pseudoautosomal	229100 Glutamate formiminotransferase deficiency				12815595		False	1	50;50;0	3.23	False		ENSG00000160282	ENSG00000160282	HGNC:3974													
FUT2	gene	FUT2	Literature	Rare anaemia		Haematology	BIALLELIC, autosomal or pseudoautosomal	Developmental and epileptic encephalopathy				39350204		False	1	0;0;0	3.23	False		ENSG00000176920	ENSG00000176920	HGNC:4013													
GPX1	gene	GPX1	Expert Review Red;London South GLH;NHS GMS	Rare anaemia		Haematology	BIALLELIC, autosomal or pseudoautosomal	614164 Hemolytic anemia due to glutathione peroxidase deficiency				1131421		False	1	0;50;50	3.23	False		ENSG00000233276	ENSG00000233276	HGNC:4553													
HBE1	gene	HBE1	Expert Review Red;London South GLH;NHS GMS	Rare anaemia		Haematology	BIALLELIC, autosomal or pseudoautosomal	Epsilon-gamma-delta-beta thalassaemia				17712794		False	1	50;50;0	3.23	False		ENSG00000213931	ENSG00000213931	HGNC:4830													
RPL26	gene	RPL26	Expert Review Red;London South GLH;NHS GMS;Wessex and West Midlands GLH	Rare anaemia		Haematology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	?Diamond-Blackfan anemia 11, 614900;614900 ?Diamond-Blackfan anemia 11				22431104		False	1	50;25;25	3.23	False		ENSG00000161970	ENSG00000161970	HGNC:10327													
SF3B1	gene	SF3B1	Expert Review Red;London South GLH;NHS GMS	Rare anaemia		Haematology	Unknown	605590 Refractory anaemia with ring sideroblasts				21995386;28188970		False	1	50;50;0	3.23	False		ENSG00000115524	ENSG00000115524	HGNC:10768