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
CYLD	gene	CYLD	Expert Review Green;London North GLH;NHS GMS	Multiple monogenic benign skin tumours		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cylindromatosis, familial, OMIM:132700, Trichoepithelioma, multiple familial, 1, OMIM:601606						False	3	100;0;0	2.5	False		ENSG00000083799	ENSG00000083799	HGNC:2584													
FLCN	gene	FLCN	Expert Review Green;London North GLH;NHS GMS	Multiple monogenic benign skin tumours		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Birt-Hogg-Dub syndrome, OMIM:135150						False	3	100;0;0	2.5	False		ENSG00000154803	ENSG00000154803	HGNC:27310													
LEMD3	gene	LEMD3	Expert Review Green;London North GLH;NHS GMS	Multiple monogenic benign skin tumours		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Osteopoikilosis with or without melorheostosis, OMIM:166700;BUSCHKE-OLLENDORFF SYNDROME, OMIM:166700						False	3	100;0;0	2.5	False		ENSG00000174106	ENSG00000174106	HGNC:28887													
MLH1	gene	MLH1	Expert Review Green;London North GLH;NHS GMS	Multiple monogenic benign skin tumours		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Muir-Torre syndrome, OMIM:158320						False	3	100;0;0	2.5	False		ENSG00000076242	ENSG00000076242	HGNC:7127													
MSH2	gene	MSH2	Expert Review Green;London North GLH;NHS GMS	Multiple monogenic benign skin tumours		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Muir-Torre syndrome, OMIM:158320						False	3	100;0;0	2.5	False		ENSG00000095002	ENSG00000095002	HGNC:7325													
PDGFRB	gene	PDGFRB	Expert Review Green;London North GLH;NHS GMS	Multiple monogenic benign skin tumours		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Myofibromatosis, infantile, 1, OMIM:228550;myofibromatosis, infantile, 1, MONDO:0009227				23731537;23731542		False	3	50;0;50	2.5	False		ENSG00000113721	ENSG00000113721	HGNC:8804													
MSH6	gene	MSH6	Expert list;Expert Review Amber	Multiple monogenic benign skin tumours		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Muir-Torre syndrome, MONDO:0008018						False	2	0;100;0	2.5	False		ENSG00000116062	ENSG00000116062	HGNC:7329													
NOTCH3	gene	NOTCH3	Expert Review Amber;Other	Multiple monogenic benign skin tumours		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	?Myofibromatosis, infantile 2, OMIM:615293;myofibromatosis, infantile, 2, MONDO:0014122				33509954;23731542		False	2	0;100;0	2.5	False		ENSG00000074181	ENSG00000074181	HGNC:7883													
PMS2	gene	PMS2	Expert list;Expert Review Amber	Multiple monogenic benign skin tumours		Dermatology	BIALLELIC, autosomal or pseudoautosomal	Muir-Torre syndrome, MONDO:0008018						False	2	0;100;0	2.5	False		ENSG00000122512	ENSG00000122512	HGNC:9122