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
DNA2	gene	DNA2	Expert Review Amber;Literature	Photosensitivity Syndromes		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Rothmund-Thomson syndrome, MONDO:0010002, DNA2 associated			Cutaneous photosensitivity;HP:0000992	37055165		False	2	0;100;0	1.8	True		ENSG00000138346	ENSG00000138346	HGNC:2939													
GATA1	gene	GATA1	Expert list;Expert Review Amber	Photosensitivity Syndromes		Dysmorphic and congenital abnormality syndromes	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Erythropoietic porphyria			Cutaneous photosensitivity;HP:0000992	PMID: 17148589;25251786		False	2	0;100;0	1.8	True		ENSG00000102145	ENSG00000102145	HGNC:4170													
RECQL	gene	RECQL	Expert Review Amber;Literature	Photosensitivity Syndromes		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Photosensitivity;facial dysmorphism;xeropthalmia;skeletal abnormalities			Cutaneous photosensitivity;HP:0000992	PMID: 35025765		False	2	0;100;0	1.8	True		ENSG00000004700	ENSG00000004700	HGNC:9948