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
RPL27	gene	RPL27	Expert Review Red;Victorian Clinical Genetics Services	Diamond Blackfan anaemia		Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Diamond-Blackfan anemia 16, MIM# 617408			Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172	25424902		False	1	0;0;100	1.8	True		ENSG00000131469	ENSG00000131469	HGNC:10328													
RPL35	gene	RPL35	Expert list;Expert Review Red	Diamond Blackfan anaemia		Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Diamond-Blackfan anemia 19, MIM#	618312"			Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172	28280134		False	1	0;0;100	1.8	True		ENSG00000136942	ENSG00000136942	HGNC:10344													
RPS15	gene	RPS15	Expert Review;Expert Review Red	Diamond Blackfan anaemia		Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Diamond-Blackfan anaemia, MONDO:0015253, RPS15-related			Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172	19061985		False	1	0;0;100	1.8	True		ENSG00000115268	ENSG00000115268	HGNC:10388													
RPS15A	gene	RPS15A	Expert list;Expert Review Red	Diamond Blackfan anaemia		Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Diamond-Blackfan anemia 20, MIM#	618313"			Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172	27909223		False	1	0;0;100	1.8	True		ENSG00000134419	ENSG00000134419	HGNC:10389													
RPS27	gene	RPS27	Expert Review Red;Victorian Clinical Genetics Services	Diamond Blackfan anaemia		Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Diamond-Blackfan anemia 17, MIM# 617409			Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172	25424902		False	1	0;0;100	1.8	True		ENSG00000177954	ENSG00000177954	HGNC:10416													
TSR2	gene	TSR2	Expert Review Red;Victorian Clinical Genetics Services	Diamond Blackfan anaemia		Haematological disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946			Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172	24942156		False	1	0;0;100	1.8	True		ENSG00000158526	ENSG00000158526	HGNC:25455