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
GATA1	gene	GATA1	Expert list;Expert Review Green	Diamond Blackfan anaemia		Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Diamond-Blackfan anemia (MONDO:0015253)			Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172	PMID: 36029112		False	3	100;0;0	1.8	True		ENSG00000102145	ENSG00000102145	HGNC:4170													
HEATR3	gene	HEATR3	Expert Review Green;Literature	Diamond Blackfan anaemia		Haematological disorders	BIALLELIC, autosomal or pseudoautosomal	Diamond-Blackfan anaemia 21, MIM# 620072			Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172	PMID: 35213692		False	3	100;0;0	1.8	True		ENSG00000155393	ENSG00000155393	HGNC:26087													
RPL11	gene	RPL11	Expert Review Green;Victorian Clinical Genetics Services	Diamond Blackfan anaemia		Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Diamond-Blackfan anemia 7, MIM# 612562;MONDO:0012938			Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172	19061985		False	3	100;0;0	1.8	True		ENSG00000142676	ENSG00000142676	HGNC:10301													
RPL15	gene	RPL15	Expert Review Green;Victorian Clinical Genetics Services	Diamond Blackfan anaemia		Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Diamond-Blackfan anemia 12, MIM# 615550			Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172	23812780;29599205		False	3	100;0;0	1.8	True		ENSG00000174748	ENSG00000174748	HGNC:10306													
RPL26	gene	RPL26	Expert Review Green;Victorian Clinical Genetics Services	Diamond Blackfan anaemia		Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Diamond-Blackfan anemia 11, MIM# 614900			Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172	22431104		False	3	50;0;50	1.8	True		ENSG00000161970	ENSG00000161970	HGNC:10327													
RPL35A	gene	RPL35A	Expert Review Green;Victorian Clinical Genetics Services	Diamond Blackfan anaemia		Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Diamond-Blackfan anemia 5, MIM# 612528			Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172	18535205;32241839		False	3	100;0;0	1.8	True		ENSG00000182899	ENSG00000182899	HGNC:10345													
RPL5	gene	RPL5	Expert Review Green;Victorian Clinical Genetics Services	Diamond Blackfan anaemia		Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Diamond-Blackfan anemia 6, MIM# 612561;MONDO:0012937			Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172	19061985		False	3	100;0;0	1.8	True		ENSG00000122406	ENSG00000122406	HGNC:10360													
RPS10	gene	RPS10	Expert Review Green;Victorian Clinical Genetics Services	Diamond Blackfan anaemia		Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Diamond-Blackfan anemia 9, MIM# 613308			Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172	20116044;23718193;25946618		False	3	100;0;0	1.8	True		ENSG00000124614	ENSG00000124614	HGNC:10383													
RPS17	gene	RPS17	Expert Review Green;Victorian Clinical Genetics Services	Diamond Blackfan anaemia		Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Diamond-Blackfan anemia 4, MIM# 612527			Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172	17647292;19061985;23812780;23718193		False	3	100;0;0	1.8	True		ENSG00000182774	ENSG00000182774	HGNC:10397													
RPS19	gene	RPS19	Expert Review Green;Victorian Clinical Genetics Services	Diamond Blackfan anaemia		Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Diamond-Blackfan anemia 1, MIM# 105650;MONDO:0007110			Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172	9988267;10590074		False	3	100;0;0	1.8	True		ENSG00000105372	ENSG00000105372	HGNC:10402													
RPS24	gene	RPS24	Expert Review Green;Victorian Clinical Genetics Services	Diamond Blackfan anaemia		Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Diamond-blackfan anemia 3, MIM# 610629;MONDO:0012529			Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172	17186470;23812780;25946618		False	3	100;0;0	1.8	True		ENSG00000138326	ENSG00000138326	HGNC:10411													
RPS26	gene	RPS26	Expert Review Green;Victorian Clinical Genetics Services	Diamond Blackfan anaemia		Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Diamond-Blackfan anemia 10, MIM# 613309;MONDO:0013217			Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172	20116044;23812780;24942156		False	3	100;0;0	1.8	True		ENSG00000197728	ENSG00000197728	HGNC:10414													
RPS7	gene	RPS7	Expert Review Green;Victorian Clinical Genetics Services	Diamond Blackfan anaemia		Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Diamond-Blackfan anemia 8, MIM# 612563;MONDO:0012939			Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172	19061985;23718193;27882484;32772263		False	3	100;0;0	1.8	True		ENSG00000171863	ENSG00000171863	HGNC:10440