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
A2ML1	gene	A2ML1	Expert Review Red;Other	Pigmentary skin disorders		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Noonan syndrome				24939586;27942422;25862627		False	1	0;0;0	4.13	False		ENSG00000166535	ENSG00000166535	HGNC:23336													
ASIP	gene	ASIP	Expert Review Red;London North GLH;NHS GMS	Pigmentary skin disorders		Dermatology		Pigmentation, susceptibility to facial pigmented spots						False	1	0;0;100	4.13	False		ENSG00000101440	ENSG00000101440	HGNC:745													
BNC2	gene	BNC2	Expert Review Red;London North GLH;NHS GMS	Pigmentary skin disorders		Dermatology		Pigmentation, susceptibility to facial pigmented spots						False	1	0;0;100	4.13	False		ENSG00000173068	ENSG00000173068	HGNC:30988													
FANCM	gene	FANCM	Expert Review;Expert Review Red	Pigmentary skin disorders		Dermatology	BIALLELIC, autosomal or pseudoautosomal							False	1	50;0;50	4.13	False		ENSG00000187790	ENSG00000187790	HGNC:23168													
GNA11	gene	GNA11	Expert Review Red;London North GLH;NHS GMS	Pigmentary skin disorders		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Extensive dermal melanocytosis;Phakomatosis pigmentovascularis						False	1	50;0;50	4.13	False		ENSG00000088256	ENSG00000088256	HGNC:4379													
GNAQ	gene	GNAQ	Expert Review Red;London North GLH;NHS GMS	Pigmentary skin disorders		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sturge Weber syndrome;Extensive dermal melanocytosis;Phakomatosis pigmentovascularis						False	1	50;0;50	4.13	False		ENSG00000156052	ENSG00000156052	HGNC:4390													
GNAS	gene	GNAS	Expert Review Red;London North GLH;NHS GMS	Pigmentary skin disorders		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	McCune-Albright syndrome						False	1	50;0;50	4.13	False		ENSG00000087460	ENSG00000087460	HGNC:4392													
IRF4	gene	IRF4	Expert Review Red;London North GLH;NHS GMS	Pigmentary skin disorders		Dermatology		Pigmentation,susceptibility to facial pigmented spots						False	1	0;0;100	4.13	False		ENSG00000137265	ENSG00000137265	HGNC:6119													
MC1R	gene	MC1R	Expert Review Red;London North GLH;NHS GMS	Pigmentary skin disorders		Dermatology	BIALLELIC, autosomal or pseudoautosomal	Susceptibility to facial pigmented spots;Susceptibility to congenital melanocytic naevi;Pigmentation;Susceptibility to melanoma						False	1	50;0;50	4.13	False		ENSG00000258839	ENSG00000258839	HGNC:6929													
NOP10	gene	NOP10	Expert Review Red;London North GLH;NHS GMS	Pigmentary skin disorders		Dermatology	BIALLELIC, autosomal or pseudoautosomal	Dyskeratosis congenita, autosomal recessive 1, 224230						False	1	0;0;100	4.13	False		ENSG00000182117	ENSG00000182117	HGNC:14378													
OFD1	gene	OFD1	Expert Review Red;London North GLH;NHS GMS	Pigmentary skin disorders		Dermatology		Terminal osseous dysplasia with pigmentary defects						False	1	0;0;100	4.13	False		ENSG00000046651	ENSG00000046651	HGNC:2567													
RASA2	gene	RASA2	Other	Pigmentary skin disorders		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Noonan syndrome?				25049390		False	1	0;0;0	4.13	False		ENSG00000155903	ENSG00000155903	HGNC:9872													
SMARCB1	gene	SMARCB1	Expert Review;Expert Review Red	Pigmentary skin disorders		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Schwannomatosis-1, susceptibility to				PMID: 32972601		False	1	50;50;0	4.13	False		ENSG00000099956	ENSG00000099956	HGNC:11103													
VDR	gene	VDR	Expert Review Red;London North GLH;NHS GMS	Pigmentary skin disorders		Dermatology		Susceptibility to skin cancer						False	1	0;0;100	4.13	False		ENSG00000111424	ENSG00000111424	HGNC:12679