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
FANCM	gene	FANCM	Expert Review Red;Victorian Clinical Genetics Services	Bone Marrow Failure		Haematological disorders	BIALLELIC, autosomal or pseudoautosomal	Fanconi anaemia			Abnormality of multiple cell lineages of the bone marrow;HP:0012145	28837162		False	1	0;0;100	1.145	True		ENSG00000187790	ENSG00000187790	HGNC:23168													
FECH	gene	FECH	Expert Review Red;Victorian Clinical Genetics Services	Bone Marrow Failure		Haematological disorders	BIALLELIC, autosomal or pseudoautosomal	Protoporphyria, erythropoietic, 1, MIM# 177000			Abnormality of multiple cell lineages of the bone marrow;HP:0012145			False	1	0;0;100	1.145	True		ENSG00000066926	ENSG00000066926	HGNC:3647													
MAD2L2	gene	MAD2L2	Expert list;Expert Review Red	Bone Marrow Failure		Haematological disorders	BIALLELIC, autosomal or pseudoautosomal	"Fanconi anemia, complementation group V, MIM#	617243"			Abnormality of multiple cell lineages of the bone marrow;HP:0012145	27500492		False	1	0;0;100	1.145	True		ENSG00000116670	ENSG00000116670	HGNC:6764													
POLE	gene	POLE	Expert Review Red;Literature	Bone Marrow Failure		Haematological disorders	BIALLELIC, autosomal or pseudoautosomal	MONDO:0002254 syndromic disease			Abnormality of multiple cell lineages of the bone marrow;HP:0012145	PMID: 37833059		False	1	0;0;100	1.145	True		ENSG00000177084	ENSG00000177084	HGNC:9177													
RAD51	gene	RAD51	Expert list;Expert Review Red	Bone Marrow Failure		Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Fanconi anemia complementation group R MONDO:0014986			Abnormality of multiple cell lineages of the bone marrow;HP:0012145	26253028;26681308;30907510		False	1	0;0;100	1.145	True		ENSG00000051180	ENSG00000051180	HGNC:9817													
RBSN	gene	RBSN	Expert Review Red;Literature	Bone Marrow Failure		Haematological disorders	BIALLELIC, autosomal or pseudoautosomal	"Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities, MIM#	620939"			Abnormality of multiple cell lineages of the bone marrow;HP:0012145	29784638		False	1	0;0;100	1.145	True		ENSG00000131381	ENSG00000131381	HGNC:20759													
RPA2	gene	RPA2	Expert Review Red;Literature	Bone Marrow Failure		Haematological disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Telomere syndrome, MONDO:0100137, RPA2-related			Abnormality of multiple cell lineages of the bone marrow;HP:0012145	41703052;39231615		False	1	0;0;100	1.145	True		ENSG00000117748	ENSG00000117748	HGNC:10290													
RPL35	gene	RPL35	Expert list;Expert Review Red	Bone Marrow Failure		Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Diamond-Blackfan anemia 19, MIM# 618312			Abnormality of multiple cell lineages of the bone marrow;HP:0012145	PMID: 28280134		False	1	0;0;100	1.145	True		ENSG00000136942	ENSG00000136942	HGNC:10344													
RPS15A	gene	RPS15A	Expert list;Expert Review Red	Bone Marrow Failure		Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Diamond-Blackfan anemia 20, MIM# 618313			Abnormality of multiple cell lineages of the bone marrow;HP:0012145	PMID: 27909223		False	1	0;0;100	1.145	True		ENSG00000134419	ENSG00000134419	HGNC:10389													
RPS27	gene	RPS27	Expert Review Red;Victorian Clinical Genetics Services	Bone Marrow Failure		Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Diamond-Blackfan anemia 17, MIM# 617409			Abnormality of multiple cell lineages of the bone marrow;HP:0012145	25424902		False	1	0;0;100	1.145	True		ENSG00000177954	ENSG00000177954	HGNC:10416													
SLC30A7	gene	SLC30A7	Expert Review;Expert Review Red	Bone Marrow Failure		Haematological disorders	BIALLELIC, autosomal or pseudoautosomal	Ziegler-Huang syndrome, MIM# 620501			Abnormality of multiple cell lineages of the bone marrow;HP:0012145	36821639		False	1	0;0;100	1.145	True		ENSG00000162695	ENSG00000162695	HGNC:19306													
TSR2	gene	TSR2	Expert Review Red;Victorian Clinical Genetics Services	Bone Marrow Failure		Haematological disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946			Abnormality of multiple cell lineages of the bone marrow;HP:0012145	24942156		False	1	0;0;100	1.145	True		ENSG00000158526	ENSG00000158526	HGNC:25455