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
ERCC4	gene	ERCC4	Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN	Neurofibromatosis Type 1	Muscle and nerve	Tumour syndromes	BIALLELIC, autosomal or pseudoautosomal	Xeroderma pigmentosum, group F, 278760;XFE progeroid syndrome, 610965;Fanconi anemia, complementation group Q, 615272;Xeroderma pigmentosum, type F/Cockayne syndrome, 278760;Fanconi Anaemia						False	1	75;25;0	1.33	False		ENSG00000175595	ENSG00000175595	HGNC:3436													
FANCM	gene	FANCM	Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Neurofibromatosis Type 1	Muscle and nerve	Tumour syndromes	BIALLELIC, autosomal or pseudoautosomal	Fanconi anemia, complementation group M, 614087;Fanconi Anemia;Fanconi Anaemia				16116422;19423727;25078778		False	1	50;25;25	1.33	False		ENSG00000187790	ENSG00000187790	HGNC:23168													
MAP2K1	gene	MAP2K1	Expert Review Red;Literature	Neurofibromatosis Type 1	Muscle and nerve	Tumour syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Noonan syndrome with multiple lentigines (LEOPARD syndrome), 151100 				25423878		False	1	0;0;100	1.33	False		ENSG00000169032	ENSG00000169032	HGNC:6840													
UBE2T	gene	UBE2T	Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Literature	Neurofibromatosis Type 1	Muscle and nerve	Tumour syndromes	BIALLELIC, autosomal or pseudoautosomal	Fanconi anaemia, complementation group T,  616435				26046368		False	1	0;100;0	1.33	False		ENSG00000077152	ENSG00000077152	HGNC:25009