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
ADA	gene	ADA	Expert Review Amber;Literature	Haematological malignancies cancer susceptibility		Cancer susceptibility	BIALLELIC, autosomal or pseudoautosomal	Severe combined immunodeficiency due to ADA deficiency, OMIM: 102700				32098966		False	2	100;0;0	4.40	False		ENSG00000196839	ENSG00000196839	HGNC:186													
DHX34	gene	DHX34	Expert Review Amber;Literature	Haematological malignancies cancer susceptibility		Cancer susceptibility	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	myelodysplastic syndrome;acute myeloid leukemia				32098966		False	2	67;33;0	4.40	False		ENSG00000134815	ENSG00000134815	HGNC:16719													
DNAH9	gene	DNAH9	Expert Review Amber;Literature	Haematological malignancies cancer susceptibility		Cancer susceptibility	BIALLELIC, autosomal or pseudoautosomal	MDS/AML;inherited bone marrow failure (IBMF)				32098966		False	2	67;33;0	4.40	False		ENSG00000007174	ENSG00000007174	HGNC:2953													
FANCM	gene	FANCM	Curated sources;Expert Review Amber	Haematological malignancies cancer susceptibility		Cancer susceptibility	BIALLELIC, autosomal or pseudoautosomal	Class: BM failure FA, (typ AR);Fanconi anemia;MDS;AML;Bone marrow failure;Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar				27881370;28297620		False	2	100;0;0	4.40	False		ENSG00000187790	ENSG00000187790	HGNC:23168													
HAVCR2	gene	HAVCR2	Expert list;Expert Review;Expert Review Amber;Literature	Haematological malignancies cancer susceptibility		Cancer susceptibility	BIALLELIC, autosomal or pseudoautosomal	T-cell lymphoma, subcutaneous panniculitis-like, OMIM:618398;subcutaneous panniculitis-like T-cell lymphoma, MONDO:0019475				30374066;30792187;32005988;32285995		False	2	67;33;0	4.40	False	Other	ENSG00000135077	ENSG00000135077	HGNC:18437													
KDM1A	gene	KDM1A	Expert list;Expert Review Amber	Haematological malignancies cancer susceptibility		Cancer susceptibility	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Multiple myeloma				29559475;39845416		False	2	50;50;0	4.40	False		ENSG00000004487	ENSG00000004487	HGNC:29079													
NAPRT	gene	NAPRT	Expert Review Amber;Literature	Haematological malignancies cancer susceptibility		Cancer susceptibility	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	MDS/AML;inherited bone marrow failure series				32098966		False	2	50;50;0	4.40	False		ENSG00000147813	ENSG00000147813	HGNC:30450													
PTPN13	gene	PTPN13	Expert Review Amber;Literature	Haematological malignancies cancer susceptibility		Cancer susceptibility	BIALLELIC, autosomal or pseudoautosomal	bone marrow failure and acute lymphoblastic leukemia				PMID: 35643866		False	2	0;100;0	4.40	False		ENSG00000163629	ENSG00000163629	HGNC:9646													
RAD51	gene	RAD51	Curated sources;Expert Review Amber	Haematological malignancies cancer susceptibility		Cancer susceptibility	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Fanconi anemia, complementation group R, OMIM:617244				26681308;26253028;30907510		False	2	50;50;0	4.40	False		ENSG00000051180	ENSG00000051180	HGNC:9817													
RAD51C	gene	RAD51C	Curated sources;Expert Review Amber	Haematological malignancies cancer susceptibility		Cancer susceptibility	BIALLELIC, autosomal or pseudoautosomal	Class: BM failure FA, (typ AR);Fanconi anemia;MDS;AML;Bone marrow failure;Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar				27881370; 28297620		False	2	100;0;0	4.40	False		ENSG00000108384	ENSG00000108384	HGNC:9820													
SH2B3	gene	SH2B3	Curated sources;Expert Review Amber	Haematological malignancies cancer susceptibility		Cancer susceptibility	BIALLELIC, autosomal or pseudoautosomal	Class: familial predisp to leukaemia (typ AD);SH2B3-related familial ALL;ALL;Autoimmunity;No other known cancer risks				27881370;23908464;27913496;39316992;28484264		False	2	75;25;0	4.40	False		ENSG00000111252	ENSG00000111252	HGNC:29605													
STX11	gene	STX11	Expert list;Expert Review Amber;Literature	Haematological malignancies cancer susceptibility		Cancer susceptibility	BIALLELIC, autosomal or pseudoautosomal	Hemophagocytic lymphohistiocytosis, familial, 4 603552				16582076;26176172		False	2	0;0;0	4.40	False		ENSG00000135604	ENSG00000135604	HGNC:11429													
STXBP2	gene	STXBP2	Expert list;Expert Review Amber;Literature	Haematological malignancies cancer susceptibility		Cancer susceptibility	BIALLELIC, autosomal or pseudoautosomal	risk of lymphoma;predisposition to acute lymphoblastic leukemia (ALL);Hemophagocytic lymphohistiocytosis, familial, 5 613101				23100279;24827398		False	2	0;0;0	4.40	False		ENSG00000076944	ENSG00000076944	HGNC:11445													
TCF3	gene	TCF3	Expert Review Amber;Literature	Haematological malignancies cancer susceptibility		Cancer susceptibility	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	B-cell acute lymphoblastic leukemia, MONDO:0004947				36576946;37129918		False	2	67;33;0	4.40	False		ENSG00000071564	ENSG00000071564	HGNC:11633													
UNC13D	gene	UNC13D	Expert list;Expert Review Amber;Literature	Haematological malignancies cancer susceptibility		Cancer susceptibility	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Increased risk of lymphoma;predisposition to childhood anaplastic large cell lymphoma;predisposition to leukemia;increased susceptibility to malignancy				30758854;24309606;21370424;24827398		False	2	0;0;0	4.40	False		ENSG00000092929	ENSG00000092929	HGNC:23147