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
FAAP100	gene	FAAP100	Expert Review Amber;Literature	Confirmed Fanconi anaemia or Bloom syndrome		Haematology	BIALLELIC, autosomal or pseudoautosomal	Fanconi anemia, complementation group X, OMIM:621258;Fanconi anemia, MONDO:0019391				40232843;40244696		False	2	100;0;0	2.13	False		ENSG00000185504	ENSG00000185504	HGNC:26171													
MAD2L2	gene	MAD2L2	Expert Review Amber;NHS GMS;North West GLH;Yorkshire and North East GLH	Confirmed Fanconi anaemia or Bloom syndrome		Haematology	BIALLELIC, autosomal or pseudoautosomal	?Fanconi anemia, complementation group V, 617243;617243 ?Fanconi anemia, complementation group V						False	2	0;100;0	2.13	False		ENSG00000116670	ENSG00000116670	HGNC:6764													
RAD51C	gene	RAD51C	Expert Review Amber;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH	Confirmed Fanconi anaemia or Bloom syndrome		Haematology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Fanconi anemia, complementation group O, OMIM:613390;Fanconi anemia complementation group O, MONDO:0013248				20400963;22232082;26681308;29278735;37031326		False	2	20;80;0	2.13	False		ENSG00000108384	ENSG00000108384	HGNC:9820													
XRCC2	gene	XRCC2	Expert Review Amber;NHS GMS;Yorkshire and North East GLH	Confirmed Fanconi anaemia or Bloom syndrome		Haematology	BIALLELIC, autosomal or pseudoautosomal	?Fanconi anemia, complementation group U, OMIM:617247;Fanconi anemia complementation group U, MONDO:0014987				22232082;27208205		False	2	33;33;33	2.13	False		ENSG00000196584	ENSG00000196584	HGNC:12829