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
GJB2	gene	GJB2	Expert Review Amber	Ectodermal dysplasia		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hystrix-like ichthyosis with deafness, 602540;clouston syndrome;Scarring alopecia;HID syndrome				2681028;25575739;25808784;15757815		False	2	0;0;0	4.27	False		ENSG00000165474	ENSG00000165474	HGNC:4284													
HLA-DRA	gene	HLA-DRA	Expert Review Amber	Ectodermal dysplasia		Dermatology	Unknown	lichen planopilaris;progressive cicatricial (scarring) alopecia;Graham Little syndrome;Graham Little-Piccardi-Lassueur syndrome						False	2	0;100;0	4.27	False		ENSG00000204287	ENSG00000204287	HGNC:4947													
KDF1	gene	KDF1	Expert Review Amber;Literature	Ectodermal dysplasia		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	?Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type, OMIM:617337;ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type, MONDO:0015024				27838789;24075906;30384154;30977908;36293320;37144643;38501196;40554824		False	2	100;0;0	4.27	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000175707	ENSG00000175707	HGNC:26624													
KREMEN1	gene	KREMEN1	Expert Review Amber	Ectodermal dysplasia		Dermatology	BIALLELIC, autosomal or pseudoautosomal	Ectodermal dysplasia 13, hair/tooth type, 617392				27049303;29526031		False	2	0;100;0	4.27	False		ENSG00000183762	ENSG00000183762	HGNC:17550													
KRT71	gene	KRT71	Expert Review Amber	Ectodermal dysplasia		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	hypotrichosis;?Hypotrichosis 13, 615896;HYPT13;woolly hair				22592156		False	2	0;50;50	4.27	False		ENSG00000139648	ENSG00000139648	HGNC:28927													
KRT83	gene	KRT83	Expert Review Amber	Ectodermal dysplasia		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Monilethrix, OMIM:158000				27965375;25557232		False	2	0;100;0	4.27	False		ENSG00000170523	ENSG00000170523	HGNC:6460													
LSS	gene	LSS	Expert Review Amber;Literature	Ectodermal dysplasia		Dermatology	BIALLELIC, autosomal or pseudoautosomal	Alopecia-intellectual disability syndrome 4, OMIM:618840;alopecia-intellectual disability syndrome 4, MONDO:0030009;Hypotrichosis 14, OMIM:618275;hypotrichosis 14, MONDO:0032649				32101538;30401459;30723320;29016354		False	2	100;0;0	4.27	False		ENSG00000160285	ENSG00000160285	HGNC:6708													
SDR9C7	gene	SDR9C7	Expert Review Amber	Ectodermal dysplasia		Dermatology	BIALLELIC, autosomal or pseudoautosomal	autosomal recessive congenital ichthyosis (ARCI) type 7 (includes scarring alopecia)						False	2	0;100;0	4.27	False		ENSG00000170426	ENSG00000170426	HGNC:29958													
TUFT1	gene	TUFT1	Expert Review Amber;Literature	Ectodermal dysplasia		Dermatology	BIALLELIC, autosomal or pseudoautosomal	Woolly hair-skin fragility syndrome, OMIM:620415				36689522;37716648		False	2	50;50;0	4.27	False		ENSG00000143367	ENSG00000143367	HGNC:12422