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 1.11 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 1.11 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 1.11 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 1.11 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