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	Curated sources;Expert Review Amber	Haematological malignancies for rare disease	Tumour syndromes	Tumour syndromes	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	1.19	False		ENSG00000187790	ENSG00000187790	HGNC:23168													
RAD51	gene	RAD51	Curated sources;Expert Review Amber	Haematological malignancies for rare disease	Tumour syndromes	Tumour syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Fanconi anemia, complementation group R, OMIM:617244				26681308;26253028;30907510		False	2	67;33;0	1.19	False		ENSG00000051180	ENSG00000051180	HGNC:9817													
RAD51C	gene	RAD51C	Curated sources;Expert Review Amber	Haematological malignancies for rare disease	Tumour syndromes	Tumour syndromes	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	1.19	False		ENSG00000108384	ENSG00000108384	HGNC:9820													
SH2B3	gene	SH2B3	Curated sources;Expert Review Amber	Haematological malignancies for rare disease	Tumour syndromes	Tumour syndromes	BIALLELIC, autosomal or pseudoautosomal	Class: familial predisp to leukaemia (typ AD);SH2B3-related familial ALL;ALL;Autoimmunity;No other known cancer risks				27881370;23908464		False	2	100;0;0	1.19	False		ENSG00000111252	ENSG00000111252	HGNC:29605