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
CASP14	gene	CASP14	Expert Review Red;London North GLH;NHS GMS	Palmoplantar keratodermas		Dermatology	BIALLELIC, autosomal or pseudoautosomal	Ichthyosis, congenital, autosomal recessive 12;617320						False	1	25;0;75	4.9	False		ENSG00000105141	ENSG00000105141	HGNC:1502													
CLDN1	gene	CLDN1	Expert Review Red;London North GLH;NHS GMS	Palmoplantar keratodermas		Dermatology	BIALLELIC, autosomal or pseudoautosomal	Neonatal ichthyosis-sclerosing cholangitis syndrome						False	1	25;0;75	4.9	False		ENSG00000163347	ENSG00000163347	HGNC:2032													
DSC1	gene	DSC1	Expert Review Red;London North GLH;NHS GMS	Palmoplantar keratodermas		Dermatology		Desmosomal disorders						False	1	0;0;100	4.9	False		ENSG00000134765	ENSG00000134765	HGNC:3035													
DSG2	gene	DSG2	Expert Review Red;London North GLH;NHS GMS	Palmoplantar keratodermas		Dermatology		Desmosomal disorders						False	1	0;0;100	4.9	False		ENSG00000046604	ENSG00000046604	HGNC:3049													
MVK	gene	MVK	Expert Review Red;London North GLH;NHS GMS	Palmoplantar keratodermas		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Porokeratosis 3, multiple types, OMIM:175900						False	1	25;0;75	4.9	False		ENSG00000110921	ENSG00000110921	HGNC:7530													
PEX7	gene	PEX7	Expert Review Red;London North GLH;NHS GMS	Palmoplantar keratodermas		Dermatology	BIALLELIC, autosomal or pseudoautosomal	Refsum disease						False	1	25;0;75	4.9	False		ENSG00000112357	ENSG00000112357	HGNC:8860													
PHYH	gene	PHYH	Expert Review Red;London North GLH;NHS GMS	Palmoplantar keratodermas		Dermatology	BIALLELIC, autosomal or pseudoautosomal	Refsum disease, OMIM:266500						False	1	25;0;75	4.9	False		ENSG00000107537	ENSG00000107537	HGNC:8940													
PKP2	gene	PKP2	Expert Review Red;London North GLH;NHS GMS	Palmoplantar keratodermas		Dermatology		Desmosomal disorders						False	1	0;0;100	4.9	False		ENSG00000057294	ENSG00000057294	HGNC:9024													
SASH1	gene	SASH1	Expert Review Red;London North GLH;NHS GMS	Palmoplantar keratodermas		Dermatology	BIALLELIC, autosomal or pseudoautosomal	?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma, OMIM:618373						False	1	0;0;100	4.9	False		ENSG00000111961	ENSG00000111961	HGNC:19182													
SLC27A4	gene	SLC27A4	Expert Review Red;London North GLH;NHS GMS	Palmoplantar keratodermas		Dermatology	BIALLELIC, autosomal or pseudoautosomal	Ichthyosis prematurity syndrome, OMIM:608649						False	1	25;0;75	4.9	False		ENSG00000167114	ENSG00000167114	HGNC:10998													
ST14	gene	ST14	Expert Review Red;London North GLH;NHS GMS	Palmoplantar keratodermas		Dermatology	BIALLELIC, autosomal or pseudoautosomal	Autosomal recessive congenital ichthyosis				17273967;18445049;18843291;29611532		False	1	33;0;67	4.9	False		ENSG00000149418	ENSG00000149418	HGNC:11344													
STK11	gene	STK11	Expert Review Red	Palmoplantar keratodermas		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown							False	1	0;50;50	4.9	False		ENSG00000118046	ENSG00000118046	HGNC:11389