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
AIRE	gene	AIRE	Eligibility statement prior genetic testing;Expert Review Green	Multi-organ autoimmune diabetes	Disorders of unusual phenotypes	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Addisons disease						False	3	100;0;0	1.12	False		ENSG00000160224	ENSG00000160224	HGNC:360													
FOXP3	gene	FOXP3	Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN	Multi-organ autoimmune diabetes	Disorders of unusual phenotypes	Endocrine disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790; {Diabetes mellitus, type I, susceptibility to}, 222100;Neonatal Diabetes						False	3	100;0;0	1.12	False		ENSG00000049768	ENSG00000049768	HGNC:6106													
LRBA	gene	LRBA	Expert Review;Expert Review Green	Multi-organ autoimmune diabetes	Disorders of unusual phenotypes	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal					25468195;26206937;26745254;27057999;25479458		False	3	100;0;0	1.12	False		ENSG00000198589	ENSG00000198589	HGNC:1742													
STAT3	gene	STAT3	Expert Review Green;UKGTN	Multi-organ autoimmune diabetes	Disorders of unusual phenotypes	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Neonatal Diabetes				25038750;25359994		False	3	100;0;0	1.12	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													
IL2RA	gene	IL2RA	Expert Review Red;Radboud University Medical Center, Nijmegen	Multi-organ autoimmune diabetes	Disorders of unusual phenotypes	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Interleukin-2 receptor, alpha chain, deficiency of, 606367; {Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942						False	1	0;0;100	1.12	False		ENSG00000134460	ENSG00000134460	HGNC:6008