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
ADAMTS2	gene	ADAMTS2	Expert Review Red	Rare genetic inflammatory skin disorders		Dermatology	BIALLELIC, autosomal or pseudoautosomal	Ehlers-Danlos syndrome, dermatosparaxis type, OMIM:225410						False	1	0;50;50	4.18	False		ENSG00000087116	ENSG00000087116	HGNC:218													
AGPS	gene	AGPS	Expert Review Red;London North GLH;NHS GMS	Rare genetic inflammatory skin disorders		Dermatology		Photoallergic dermatitis						False	1	0;0;100	4.18	False		ENSG00000018510	ENSG00000018510	HGNC:327													
COL1A1	gene	COL1A1	Expert Review Red	Rare genetic inflammatory skin disorders		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown							False	1	0;50;50	4.18	False		ENSG00000108821	ENSG00000108821	HGNC:2197													
COL1A2	gene	COL1A2	Expert Review Red	Rare genetic inflammatory skin disorders		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown							False	1	0;50;50	4.18	False		ENSG00000164692	ENSG00000164692	HGNC:2198													
COL3A1	gene	COL3A1	Expert Review Red	Rare genetic inflammatory skin disorders		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown							False	1	0;50;50	4.18	False		ENSG00000168542	ENSG00000168542	HGNC:2201													
COL4A3	gene	COL4A3	Expert Review Red	Rare genetic inflammatory skin disorders		Dermatology	BIALLELIC, autosomal or pseudoautosomal							False	1	0;50;50	4.18	False		ENSG00000169031	ENSG00000169031	HGNC:2204													
COL4A4	gene	COL4A4	Expert Review Red	Rare genetic inflammatory skin disorders		Dermatology	BIALLELIC, autosomal or pseudoautosomal							False	1	0;50;50	4.18	False		ENSG00000081052	ENSG00000081052	HGNC:2206													
COL4A5	gene	COL4A5	Expert Review Red	Rare genetic inflammatory skin disorders		Dermatology	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)							False	1	0;50;50	4.18	False		ENSG00000188153	ENSG00000188153	HGNC:2207													
COL5A1	gene	COL5A1	Expert Review Red	Rare genetic inflammatory skin disorders		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown							False	1	0;50;50	4.18	False		ENSG00000130635	ENSG00000130635	HGNC:2209													
COL5A2	gene	COL5A2	Expert Review Red	Rare genetic inflammatory skin disorders		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown							False	1	0;50;50	4.18	False		ENSG00000204262	ENSG00000204262	HGNC:2210													
EDA	gene	EDA	Expert Review Red;London North GLH;NHS GMS	Rare genetic inflammatory skin disorders		Dermatology	X-LINKED: hemizygous mutation in males, biallelic mutations in females	ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED				9683615		False	1	50;0;50	4.18	False		ENSG00000158813	ENSG00000158813	HGNC:3157													
FLG	gene	FLG	Expert Review Red;London North GLH;NHS GMS	Rare genetic inflammatory skin disorders		Dermatology	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Ichthyosis vulgaris, OMIM:146700;Dermatitis, atopic, susceptibility to, 2, OMIM:605803;hereditary palmoplantar keratoderma, MONDO:0019272				16444271;16550169		False	1	50;25;25	4.18	False		ENSG00000143631	ENSG00000143631	HGNC:3748													
XYLT2	gene	XYLT2	Expert Review Red;London North GLH;NHS GMS	Rare genetic inflammatory skin disorders		Dermatology		Scleroderma						False	1	0;0;100	4.18	False		ENSG00000015532	ENSG00000015532	HGNC:15517