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 BLK gene BLK Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Diabetes with additional phenotypes suggestive of a monogenic aetiology Disorders of unusual phenotypes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Maturity-onset diabetes of the young, type 11, 613375;Maturity Onset Diabetes of the Young False 1 0;0;100 1.67 False ENSG00000136573 ENSG00000136573 HGNC:1057 CEL gene CEL Expert Review Red;Radboud University Medical Center, Nijmegen Diabetes with additional phenotypes suggestive of a monogenic aetiology Disorders of unusual phenotypes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Maturity-onset diabetes of the young, type VIII, 609812 16369531 False 1 0;0;100 1.67 False ENSG00000170835 ENSG00000170835 HGNC:1848 DCAF17 gene DCAF17 Expert Review;Expert Review Red Diabetes with additional phenotypes suggestive of a monogenic aetiology Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal 19026396; 20507343 False 1 0;0;100 1.67 True ENSG00000115827 ENSG00000115827 HGNC:25784 FOXC2 gene FOXC2 Expert Review Red;Radboud University Medical Center, Nijmegen Diabetes with additional phenotypes suggestive of a monogenic aetiology Disorders of unusual phenotypes Endocrine disorders Lymphedema-distichiasis syndrome, 153400; Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400 False 1 0;0;100 1.67 False ENSG00000176692 ENSG00000176692 HGNC:3801 IL2RA gene IL2RA Expert Review;Expert Review Red Diabetes with additional phenotypes suggestive of a monogenic aetiology Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal 17196245 False 1 0;0;100 1.67 True ENSG00000134460 ENSG00000134460 HGNC:6008 KLF11 gene KLF11 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Diabetes with additional phenotypes suggestive of a monogenic aetiology Disorders of unusual phenotypes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Maturity-onset diabetes of the young, type VII, 610508;Maturity Onset Diabetes of the Young False 1 0;0;100 1.67 False ENSG00000172059 ENSG00000172059 HGNC:11811 PAX4 gene PAX4 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Diabetes with additional phenotypes suggestive of a monogenic aetiology Disorders of unusual phenotypes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Maturity-onset diabetes of the young, type IX, 612225; Diabetes mellitus, type 2, 125853; Diabetes mellitus, ketosis-prone, 612227;Maturity Onset Diabetes of the Young False 1 0;0;100 1.67 False ENSG00000106331 ENSG00000106331 HGNC:8618 PCBD1 gene PCBD1 Expert Review;Expert Review Red Diabetes with additional phenotypes suggestive of a monogenic aetiology Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal 24204001;24848070 False 1 0;0;100 1.67 True ENSG00000166228 ENSG00000166228 HGNC:8646 STAT1 gene STAT1 Expert Review;Expert Review Red Diabetes with additional phenotypes suggestive of a monogenic aetiology Disorders of unusual phenotypes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 23534974 False 1 0;0;100 1.67 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000115415 ENSG00000115415 HGNC:11362 ZBTB20 gene ZBTB20 Expert Review;Expert Review Red Diabetes with additional phenotypes suggestive of a monogenic aetiology Disorders of unusual phenotypes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Primrose syndrome False 1 0;0;100 1.67 False ENSG00000181722 ENSG00000181722 HGNC:13503