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 ADRA2A gene ADRA2A Expert Review Red;Genomics England PanelApp Monogenic Diabetes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lipodystrophy, familial partial, type 8, OMIM #620679 Diabetes mellitus;HP:0000819 27376152 False 1 0;0;100 0.224 True ENSG00000150594 ENSG00000150594 HGNC:281 AGPS gene AGPS Expert Review Red Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Lipodystrophy, congenital generalized, type 1, 608594 Diabetes mellitus;HP:0000819 False 1 0;0;100 0.224 False ENSG00000018510 ENSG00000018510 HGNC:327 AKT2 gene AKT2 Expert Review Red;NHS GMS Monogenic Diabetes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diabetes mellitus, type II, 125853 Diabetes mellitus;HP:0000819 17576055;15166380;17327441 False 1 0;0;100 0.224 True ENSG00000105221 ENSG00000105221 HGNC:392 APPL1 gene APPL1 Expert Review Red;NHS GMS;Royal Melbourne Hospital Monogenic Diabetes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Maturity-onset diabetes of the young, type 14}, 616511;Diabetes Diabetes mellitus;HP:0000819 26073777;36208030 False 1 0;0;100 0.224 True ENSG00000157500 ENSG00000157500 HGNC:24035 BLK gene BLK Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Royal Melbourne Hospital Monogenic Diabetes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Maturity-onset diabetes of the young, type 11, 613375;Maturity Onset Diabetes of the Young Diabetes mellitus;HP:0000819 False 1 0;0;100 0.224 False ENSG00000136573 ENSG00000136573 HGNC:1057 CIDEC gene CIDEC Expert Review Red Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal CIDEC-related familial partial lipodystrophy MONDO:0014098 Diabetes mellitus;HP:0000819 20049731 False 1 0;0;100 0.224 True ENSG00000187288 ENSG00000187288 HGNC:24229 COQ9 gene COQ9 Expert Review Red;NHS GMS Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome MONDO:0013840 Diabetes mellitus;HP:0000819 19375058;26081641;31821167;11562630 False 1 0;0;100 0.224 True ENSG00000088682 ENSG00000088682 HGNC:25302 DMXL2 gene DMXL2 Expert Review Red;Other Monogenic Diabetes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Polyendocrine-polyneuropathy syndrome , MIM# 616113" Diabetes mellitus;HP:0000819 30237576;31688942;27657680;25248098 False 1 0;0;100 0.224 True ENSG00000104093 ENSG00000104093 HGNC:2938 FOXC2 gene FOXC2 Expert Review Red;Radboud University Medical Center, Nijmegen Monogenic Diabetes Endocrine disorders Unknown Lymphedema-distichiasis syndrome, 153400;Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400 Diabetes mellitus;HP:0000819 False 1 0;100;0 0.224 False ENSG00000176692 ENSG00000176692 HGNC:3801 HAMP gene HAMP Expert Review;Expert Review Red Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, type 2B 613313 Diabetes mellitus;HP:0000819 33861982;12469120;34828384;15198949;33016646 False 1 50;0;50 0.224 True ENSG00000105697 ENSG00000105697 HGNC:15598 HFE gene HFE Expert Review Red;Radboud University Medical Center, Nijmegen Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal haemochromatosis type 1 MONDO:0021001 Diabetes mellitus;HP:0000819 8696333;10575540;20301613;38560130 False 1 50;0;50 0.224 True ENSG00000010704 ENSG00000010704 HGNC:4886 HFE2 gene HFE2 Expert Review;Expert Review Red Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, type 2A, 602390 Diabetes mellitus;HP:0000819 False 1 0;0;100 0.224 True ENSG00000168509 ENSG00000168509 HGNC:4887 KLF11 gene KLF11 Expert Review;Expert Review Red;Royal Melbourne Hospital Monogenic Diabetes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Maturity-onset diabetes of the young, type VII, 610508;Maturity Onset Diabetes of the Young Diabetes mellitus;HP:0000819 15774581;26248217;23589285;31124255;35108381 False 1 0;100;0 0.224 True ENSG00000172059 ENSG00000172059 HGNC:11811 LIPC gene LIPC Expert Review Red;Radboud University Medical Center, Nijmegen Monogenic Diabetes Endocrine disorders Unknown {Diabetes mellitus, noninsulin-dependent}, MIM#125853 Diabetes mellitus;HP:0000819 1671786;12777476;1883393;22798447;15126514;18364377;32617858 False 1 0;0;100 0.224 True ENSG00000166035 ENSG00000166035 HGNC:6619 NFKB1 gene NFKB1 Expert Review Red;Victorian Clinical Genetics Services Monogenic Diabetes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency, common variable, 12 MIM# 616576;Normal-low IgG, IgA, IgM;low-normal B cells;low switched memory B cells;hypogammaglobulinaemia;recurrent respiratory and gastrointestinal infections;Chronic obstructive pulmonary disease COPD;EBV proliferation;autoimmunity;alopecia Diabetes mellitus;HP:0000819 26279205;32278790;27022143;7834752 False 1 50;0;50 0.224 True ENSG00000109320 ENSG00000109320 HGNC:7794 PAX4 gene PAX4 Expert Review Red;Radboud University Medical Center, Nijmegen;Royal Melbourne Hospital Monogenic Diabetes Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Maturity-onset diabetes of the young, type IX MIM#612225;Transient neonatal diabetes mellitus, MONDO:0020525, PAX-4 related Diabetes mellitus;HP:0000819 17426099;14561778;25951767;21263211;40614820 False 1 50;0;50 0.224 True ENSG00000106331 ENSG00000106331 HGNC:8618 PAX6 gene PAX6 Expert Review Red;NHS GMS Monogenic Diabetes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Monogenic diabetes, MONDO:0015967, PAX6-related Diabetes mellitus;HP:0000819 36202929;22153401;11756345 False 1 0;0;100 0.224 True ENSG00000007372 ENSG00000007372 HGNC:8620 PPP1R3A gene PPP1R3A Expert Review Red;Victorian Clinical Genetics Services Monogenic Diabetes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Insulin resistance, severe, digenic 125853 Diabetes mellitus;HP:0000819 29948331;12118251;18232732 False 1 0;0;100 0.224 True ENSG00000154415 ENSG00000154415 HGNC:9291 SIRT1 gene SIRT1 ClinGen;Expert Review Red Monogenic Diabetes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted monogenic diabetes MONDO:0015967 Diabetes mellitus;HP:0000819 https://search.clinicalgenome.org/CCID:008794 False 1 0;0;100 0.224 True ENSG00000096717 ENSG00000096717 HGNC:14929 SLC40A1 gene SLC40A1 Expert Review;Expert Review Red Monogenic Diabetes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hemochromatosis, type 4, MIM# 606069 Diabetes mellitus;HP:0000819 34601591;33341511;2258529 False 1 50;0;50 0.224 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000138449 ENSG00000138449 HGNC:10909 TFR2 gene TFR2 Expert Review;Expert Review Red Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, type 3 604250 Diabetes mellitus;HP:0000819 10802645;12130528;35065677;29985876;26029709;24055163 False 1 50;0;50 0.224 True ENSG00000106327 ENSG00000106327 HGNC:11762 UNC13A gene UNC13A Expert Review Red;Literature Monogenic Diabetes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Monogenic diabetes, MONDO:0015967, UNC13A-related Diabetes mellitus;HP:0000819 40011789 False 1 0;0;100 0.224 True ENSG00000130477 ENSG00000130477 HGNC:23150