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
DES	gene	DES	Eligibility statement prior genetic testing;Expert Review Red; UKGTN	Palmoplantar keratoderma and erythrokeratodermas	Keratodermas	Dermatological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Striate keratoderma with woolly hair; Cardiomyopathy, dilated, 1I						False	1	0;0;100	1.35	False		ENSG00000175084	ENSG00000175084	HGNC:2770													
DSG2	gene	DSG2	Eligibility statement prior genetic testing;Expert Review Red; UKGTN	Palmoplantar keratoderma and erythrokeratodermas	Keratodermas	Dermatological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Striate keratoderma with woolly hair; Arrhythmogenic right ventricular dysplasia 10 Cardiomyopathy, dilated, 1BB						False	1	0;0;100	1.35	False		ENSG00000046604	ENSG00000046604	HGNC:3049													
ELOVL4	gene	ELOVL4	Literature	Palmoplantar keratoderma and erythrokeratodermas	Keratodermas	Dermatological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	"Spinocerebellar ataxia 34	133190"				26010696; 24566826		False	1	0;0;100	1.35	False		ENSG00000118402	ENSG00000118402	HGNC:14415													
KANK2	gene	KANK2	Expert Review Red;Radboud University Medical Center, Nijmegen	Palmoplantar keratoderma and erythrokeratodermas	Keratodermas	Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	PPKWH;Palmoplantar keratoderma and woolly hair, 616099				24671081		False	1	0;100;0	1.35	False		ENSG00000197256	ENSG00000197256	HGNC:29300													
LIPH	gene	LIPH	Emory Genetics Laboratory;Expert Review Red	Palmoplantar keratoderma and erythrokeratodermas	Keratodermas	Dermatological disorders		Woolly hair/hypotrichosis syndrome						False	1	0;0;100	1.35	False		ENSG00000163898	ENSG00000163898	HGNC:18483													
MBTPS2	gene	MBTPS2	Literature	Palmoplantar keratoderma and erythrokeratodermas	Keratodermas	Dermatological disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	IFAP syndrome. 308205, along with pachyonychia, palmoplantar and periorificial keratoderma;?Olmsted syndrome, X-linked, 300918;X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques (Olmsted syndrome)				24313295; 22931912		False	1	0;0;0	1.35	False		ENSG00000012174	ENSG00000012174	HGNC:15455													
MT-TS1	gene	MT-TS1	Other	Palmoplantar keratoderma and erythrokeratodermas	Keratodermas	Dermatological disorders	MITOCHONDRIAL	palmoplantar keratoderma with deafness; Keratoderma, Palmoplantar, with deafness				9450881		False	1	0;100;0	1.35	False		ENSG00000210151	ENSG00000210151	HGNC:7497													
SASH1	gene	SASH1	Expert Review Red;Literature;Radboud University Medical Center, Nijmegen	Palmoplantar keratoderma and erythrokeratodermas	Keratodermas	Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma, OMIM:618373				25315659		False	1	0;0;0	1.35	False		ENSG00000111961	ENSG00000111961	HGNC:19182													
SDR9C7	gene	SDR9C7	Literature	Palmoplantar keratoderma and erythrokeratodermas	Keratodermas	Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	"Autosomal Recessive Congenital Ichthyosis (includes palmoplantar keratoderma);ARCI;Ichthyosis, congenital, autosomal recessive 13	617574"				28369735; 28173123		False	1	0;0;0	1.35	False		ENSG00000170426	ENSG00000170426	HGNC:29958