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
COX4I2	gene	COX4I2	Expert Review Red;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH	Red cell disorders		Haematological disorders	BIALLELIC, autosomal or pseudoautosomal	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, MIM#612714			Abnormal erythrocyte morphology;HP:0001877	19268275;22730437		False	1	0;0;100	1.57	True		ENSG00000131055	ENSG00000131055	HGNC:16232													
DKC1	gene	DKC1	Expert Review Red;NHS GMS;Victorian Clinical Genetics Services;Yorkshire and North East GLH	Red cell disorders		Haematological disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Dyskeratosis congenita, X-linked 305000;Hoyeraal-Hreidarsson Syndrome			Abnormal erythrocyte morphology;HP:0001877	31269755;26951492;29081935;25940403		False	1	0;0;100	1.57	True		ENSG00000130826	ENSG00000130826	HGNC:2890													
GPX1	gene	GPX1	Expert Review Red;London South GLH;NHS GMS	Red cell disorders		Haematological disorders	BIALLELIC, autosomal or pseudoautosomal	Haemolytic anaemia due to glutathione peroxidase deficiency MIM#614164			Abnormal erythrocyte morphology;HP:0001877	1131421;476008;5766310;2492138		False	1	0;0;100	1.57	True		ENSG00000233276	ENSG00000233276	HGNC:4553													
NHP2	gene	NHP2	Expert Review Red;NHS GMS;Victorian Clinical Genetics Services;Yorkshire and North East GLH	Red cell disorders		Haematological disorders	BIALLELIC, autosomal or pseudoautosomal	Dyskeratosis congenita, autosomal recessive 2, MIM# 613987			Abnormal erythrocyte morphology;HP:0001877	18523010;31985013		False	1	0;0;100	1.57	True		ENSG00000145912	ENSG00000145912	HGNC:14377													
NMNAT3	gene	NMNAT3	Expert Review Red;Literature	Red cell disorders		Haematological disorders	BIALLELIC, autosomal or pseudoautosomal	Familial hemolytic anemia, MONDO:0003689			Abnormal erythrocyte morphology;HP:0001877	41100733, 24739386		False	1	0;0;100	1.57	True		ENSG00000163864	ENSG00000163864	HGNC:20989													
POLE	gene	POLE	Expert Review Red;Literature	Red cell disorders		Haematological disorders	BIALLELIC, autosomal or pseudoautosomal	MONDO:0002254 syndromic disease			Abnormal erythrocyte morphology;HP:0001877	PMID: 37833059		False	1	0;0;100	1.57	True		ENSG00000177084	ENSG00000177084	HGNC:9177													
RACGAP1	gene	RACGAP1	Expert list;Expert Review Red	Red cell disorders		Haematological disorders	BIALLELIC, autosomal or pseudoautosomal	"Anaemia, congenital dyserythropoietic, type IIIb, autosomal recessive	619789"			Abnormal erythrocyte morphology;HP:0001877	34818416		False	1	0;0;100	1.57	True		ENSG00000161800	ENSG00000161800	HGNC:9804													
RPS27	gene	RPS27	Expert Review Red;NHS GMS;North West GLH;Victorian Clinical Genetics Services;Wessex and West Midlands GLH;Yorkshire and North East GLH	Red cell disorders		Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Diamond-Blackfan anemia 17, MIM# 617409			Abnormal erythrocyte morphology;HP:0001877	25424902;23718193		False	1	0;0;100	1.57	True		ENSG00000177954	ENSG00000177954	HGNC:10416													
SF3B1	gene	SF3B1	Expert Review Red;London South GLH;NHS GMS	Red cell disorders		Haematological disorders	Other	Myelodysplastic syndrome, somatic MIM# 614286			Abnormal erythrocyte morphology;HP:0001877	28188970;21995386		False	1	0;0;100	1.57	True		ENSG00000115524	ENSG00000115524	HGNC:10768													
STEAP3	gene	STEAP3	Expert Review Red;Genomics England PanelApp;NHS Genomic Medicine Service;NHS GMS;Wessex and West Midlands GLH	Red cell disorders		Haematological disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Severe congenital hypochromic anemia with ringed sideroblasts, MONDO:0014094			Abnormal erythrocyte morphology;HP:0001877	22031863;25515317;26675350;38360212		False	1	0;0;100	1.57	True		ENSG00000115107	ENSG00000115107	HGNC:24592													
TSR2	gene	TSR2	Expert Review Red;NHS GMS;North West GLH;Victorian Clinical Genetics Services;Wessex and West Midlands GLH;Yorkshire and North East GLH	Red cell disorders		Haematological disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946			Abnormal erythrocyte morphology;HP:0001877	20301769;24942156		False	1	0;0;100	1.57	True		ENSG00000158526	ENSG00000158526	HGNC:25455