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
ADH5	gene	ADH5	Expert Review Amber;Literature	Rare anaemia		Haematology	BIALLELIC, autosomal or pseudoautosomal	Aplastic anaemia;Mental retardation;Skin hyperpigmentation, Short stature;Microcephaly				33147438;33355142		False	2	100;0;0	3.23	False		ENSG00000197894	ENSG00000197894	HGNC:253													
CPOX	gene	CPOX	Expert Review Amber;Other	Rare anaemia		Haematology	BIALLELIC, autosomal or pseudoautosomal	Coproporphyria, OMIM:121300;Harderoporphyria, OMIM:618892				7757079;9454777;21103937;30828546;38940544;40296768		False	2	100;0;0	3.23	False		ENSG00000080819	ENSG00000080819	HGNC:2321													
HSCB	gene	HSCB	Expert Review Amber;Literature	Rare anaemia		Haematology	BIALLELIC, autosomal or pseudoautosomal	?Anemia, sideroblastic, 5, OMIM:619523				32634119		False	2	0;100;0	3.23	False		ENSG00000100209	ENSG00000100209	HGNC:28913													
NDUFB11	gene	NDUFB11	Expert Review Amber;NHS GMS;Wessex and West Midlands GLH	Rare anaemia		Haematology		sideroblastic anaemia						False	2	0;100;0	3.23	False		ENSG00000147123	ENSG00000147123	HGNC:20372													
NHLRC2	gene	NHLRC2	Expert Review Amber;Literature	Rare anaemia		Haematology	BIALLELIC, autosomal or pseudoautosomal	FINCA syndrome OMIM:618278				29423877;32435055		False	2	100;0;0	3.23	False		ENSG00000196865	ENSG00000196865	HGNC:24731													
NHP2	gene	NHP2	Expert Review Amber;NHS GMS;Yorkshire and North East GLH	Rare anaemia		Haematology	BIALLELIC, autosomal or pseudoautosomal	613987 Dyskeratosis congenita, autosomal recessive 2						False	2	0;100;0	3.23	False		ENSG00000145912	ENSG00000145912	HGNC:14377													
PGK1	gene	PGK1	Expert Review Amber;London South GLH;NHS GMS	Rare anaemia		Haematology	X-LINKED: hemizygous mutation in males, biallelic mutations in females	300653 Phosphoglycerate kinase 1 deficiency				6412025;16740138		False	2	50;50;0	3.23	False		ENSG00000102144	ENSG00000102144	HGNC:8896													
RPL18	gene	RPL18	Expert Review Amber;NHS GMS;Wessex and West Midlands GLH	Rare anaemia		Haematology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Diamond-Blackfan anaemia				28280134		False	2	0;100;0	3.23	False		ENSG00000063177	ENSG00000063177	HGNC:10310													
RPS27	gene	RPS27	Expert Review Amber;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH	Rare anaemia		Haematology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	?Diamond-Blackfan anemia 17, OMIM:617409				23718193;25424902		False	2	33;50;17	3.23	False		ENSG00000177954	ENSG00000177954	HGNC:10416													
RPS28	gene	RPS28	Expert Review Amber;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH	Rare anaemia		Haematology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	606164 Diamond Blackfan anemia 15 with mandibulofacial dysostosis;Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164				24942156;20301769		False	2	0;100;0	3.23	False		ENSG00000233927	ENSG00000233927	HGNC:10418													
SLC19A1	gene	SLC19A1	Expert Review Amber;Literature	Rare anaemia		Haematology	BIALLELIC, autosomal or pseudoautosomal	?Megaloblastic anemia, folate-responsive, OMIM:601775;Immunodeficiency 114, folate-responsive, OMIM:620603				32276275;36517554;36745868		False	2	50;0;50	3.23	False		ENSG00000173638	ENSG00000173638	HGNC:10937													
STEAP3	gene	STEAP3	Expert Review Amber;NHS GMS;Wessex and West Midlands GLH	Rare anaemia		Haematology		hypochromic anaemia						False	2	0;100;0	3.23	False		ENSG00000115107	ENSG00000115107	HGNC:24592													
TSR2	gene	TSR2	Expert Review Amber;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH	Rare anaemia		Haematology	X-LINKED: hemizygous mutation in males, biallelic mutations in females	300946 ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis;?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946				24942156;20301769		False	2	0;100;0	3.23	False		ENSG00000158526	ENSG00000158526	HGNC:25455