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
CARD11	gene	CARD11	Expert Review Green;Literature	Severe multi-system atopic disease with high IgE	Atopy	Dermatological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	multisystem atopic disease, eczema, raised IgE, low IgM,  eosinophilia;B-cell expansion with NFKB and T-cell anergy, OMIM:616452				28628108;28747751		False	3	100;0;0	1.9	True		ENSG00000198286	ENSG00000198286	HGNC:16393													
DOCK8	gene	DOCK8	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN	Severe multi-system atopic disease with high IgE	Atopy	Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Mental retardation, autosomal dominant 2, 614113Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700;Hyper IgE syndromes						False	3	100;0;0	1.9	False		ENSG00000107099	ENSG00000107099	HGNC:19191													
PGM3	gene	PGM3	Expert Review Green;Literature	Severe multi-system atopic disease with high IgE	Atopy	Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency 23				24589341; 24698316		False	3	100;0;0	1.9	False		ENSG00000013375	ENSG00000013375	HGNC:8907													
SPINK5	gene	SPINK5	Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen	Severe multi-system atopic disease with high IgE	Atopy	Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Netherton syndrome, 256500Atopy, 147050;Netherton syndrome				PMID  11841556		False	3	0;0;0	1.9	False		ENSG00000133710	ENSG00000133710	HGNC:15464													
STAT3	gene	STAT3	Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Severe multi-system atopic disease with high IgE	Atopy	Dermatological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hyper IgE Syndrome;Hyper IgE syndromes;Hyper-IgE recurrent infection syndrome, 147060						False	3	0;0;0	1.9	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000168610	ENSG00000168610	HGNC:11364													
IL21R	gene	IL21R	Radboud University Medical Center, Nijmegen	Severe multi-system atopic disease with high IgE	Atopy	Dermatological disorders		[IgE, elevated level of], 147050Immunodeficiency, primary, autosomal recessive, IL21R-related, 615207						False	1	0;0;0	1.9	False		ENSG00000103522	ENSG00000103522	HGNC:6006													
PLA2G7	gene	PLA2G7	Radboud University Medical Center, Nijmegen	Severe multi-system atopic disease with high IgE	Atopy	Dermatological disorders		Platelet-activating factor acetylhydrolase deficiency, 614278{Asthma, susceptibility to}, 600807{Atopy, susceptibility to}, 147050						False	1	0;0;0	1.9	False		ENSG00000146070	ENSG00000146070	HGNC:9040													
TYK2	gene	TYK2	Emory Genetics Laboratory	Severe multi-system atopic disease with high IgE	Atopy	Dermatological disorders		Hyper IgE syndromes						False	1	0;0;0	1.9	False		ENSG00000105397	ENSG00000105397	HGNC:12440