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 ABCC8 gene ABCC8 Expert Review Green;NHS GMS Monogenic Diabetes Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Maturity-onset diabetes of the young, type 12, MIM# 621196;permanent neonatal diabetes mellitus MONDO:0100164;transient neonatal diabetes mellitus MONDO:0020525 Diabetes mellitus;HP:0000819 21054355;32027066;32376986;21989597;34014594 False 3 100;0;0 0.224 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000006071 ENSG00000006071 HGNC:59 AGPAT2 gene AGPAT2 Expert Review;Expert Review Green Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal congenital generalized lipodystrophy type 1 MONDO:0012071 Diabetes mellitus;HP:0000819 33651552;30296183;35857714;21847459 False 3 100;0;0 0.224 True ENSG00000169692 ENSG00000169692 HGNC:325 AIRE gene AIRE Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Monogenic Diabetes Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM#240300 Diabetes mellitus;HP:0000819 False 3 100;0;0 0.224 True ENSG00000160224 ENSG00000160224 HGNC:360 ALMS1 gene ALMS1 Expert Review Green Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Alstrom syndrome MONDO:0008763 Diabetes mellitus;HP:0000819 11941369;17594715 False 3 100;0;0 0.224 True ENSG00000116127 ENSG00000116127 HGNC:428 BLM gene BLM Expert Review Green;Victorian Clinical Genetics Services Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Bloom Syndrome MIM# 210900;Short stature, dysmorphic facies;sun-sensitive;immunoglobulin deficiency (IgA, IgG, IgM);erythema;marrow failure;leukaemia;lymphoma;chromosomal instability;predisposition to malignancies Diabetes mellitus;HP:0000819 17407155;9285778;7585968;8079989;12242442;11101838;20301572 False 3 100;0;0 0.224 True ENSG00000197299 ENSG00000197299 HGNC:1058 BSCL2 gene BSCL2 Expert Review;Expert Review Green Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal congenital generalized lipodystrophy type 2 MONDO:0010020;diabetes mellitus MONDO:0005015 Diabetes mellitus;HP:0000819 11479539;26239609 False 3 100;0;0 0.224 True ENSG00000168000 ENSG00000168000 HGNC:15832 CAV1 gene CAV1 Expert Review Green Monogenic Diabetes Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital generalized lipodystrophy type 3, MONDO:0012923 Diabetes mellitus;HP:0000819 18211975,18541701,34643546,11739396,12660144 False 3 33;33;33 0.224 True ENSG00000105974 ENSG00000105974 HGNC:1527 CAVIN1 gene CAVIN1 Expert Review Green;Victorian Clinical Genetics Services Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Lipodystrophy, congenital generalized, type 4, MIM# 613327;MONDO:0013225 Diabetes mellitus;HP:0000819 19726876;20300641;20684003;18840361 False 3 100;0;0 0.224 True ENSG00000177469 ENSG00000177469 HGNC:9688 CEL gene CEL Expert Review Green;NHS GMS Monogenic Diabetes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diabetes and pancreatic exocrine dysfunction;Maturity-onset diabetes of the young, type VIII, 609812 Diabetes mellitus;HP:0000819 24062244;21784842;19760265;18544793;17989309;16369531;29233499;27650499;33862081;37726640;38483348 False 3 67;0;33 0.224 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000170835 ENSG00000170835 HGNC:1848 CELA2A gene CELA2A Expert Review Green;Literature Monogenic Diabetes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted abdominal obesity-metabolic syndrome 4 MONDO:0032837 Diabetes mellitus;HP:0000819 31358993 False 3 100;0;0 0.224 False ENSG00000142615 ENSG00000142615 HGNC:24609 CISD2 gene CISD2 Expert Review Green;NHS GMS Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Wolfram syndrome, MIM#2604928 Diabetes mellitus;HP:0000819 10739754;17846994;25056293;25371195;7490992 False 3 100;0;0 0.224 True ENSG00000145354 ENSG00000145354 HGNC:24212 COQ2 gene COQ2 Expert Review Green;NHS GMS Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal coenzyme Q10 deficiency, primary, 1 MONDO:0011829 Diabetes mellitus;HP:0000819 16400613;30337132;26296322 False 3 100;0;0 0.224 True ENSG00000173085 ENSG00000173085 HGNC:25223 CTLA4 gene CTLA4 Expert Review Green;Victorian Clinical Genetics Services Monogenic Diabetes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoimmune lymphoproliferative syndrome, type V (MIM#616100), AD Diabetes mellitus;HP:0000819 False 3 100;0;0 0.224 True ENSG00000163599 ENSG00000163599 HGNC:2505 DCAF17 gene DCAF17 Expert Review Green;NHS GMS Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Woodhouse-Sakati syndrome MONDO:0009419 Diabetes mellitus;HP:0000819 24464444;19026396;20507343;35002959;34732557;34590781 False 3 100;0;0 0.224 True ENSG00000115827 ENSG00000115827 HGNC:25784 DNAJC3 gene DNAJC3 Expert Review Green;NHS GMS Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome MONDO:0014523 Diabetes mellitus;HP:0000819 33486469;34630333;34654017;32738013;29767246 False 3 100;0;0 0.224 True ENSG00000102580 ENSG00000102580 HGNC:9439 DUT gene DUT Expert list;Expert Review Green Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Bone marrow failure and diabetes mellitus syndrome (MIM#620044) Diabetes mellitus;HP:0000819 28073829;35611808 False 3 50;50;0 0.224 True ENSG00000128951 ENSG00000128951 HGNC:3078 DYRK1B gene DYRK1B Expert Review Green;NHS GMS Monogenic Diabetes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes);Abdominal obesity-metabolic syndrome 3, 615812 Diabetes mellitus;HP:0000819 34193236;34786696;24827035;28743892 False 3 50;50;0 0.224 True ENSG00000105204 ENSG00000105204 HGNC:3092 EIF2AK3 gene EIF2AK3 Expert Review Green;UKGTN Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Wolcott-Rallison syndrome MONDO:0009192;neonatal diabetes mellitus MONDO:0016391 Diabetes mellitus;HP:0000819 20202148;11997520;16813601;10932183;37873802;36106422 False 3 100;0;0 0.224 True ENSG00000172071 ENSG00000172071 HGNC:3255 EIF2B1 gene EIF2B1 Expert Review;Expert Review Green Monogenic Diabetes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neonatal diabetes mellitus, MONDO:0016391, EIF2B1-related Diabetes mellitus;HP:0000819 31882561 False 3 100;0;0 0.224 True ENSG00000111361 ENSG00000111361 HGNC:3257 EIF2S3 gene EIF2S3 Expert Review Green;NHS GMS Monogenic Diabetes Endocrine disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females microcephaly;MEHMO syndrome (X-linked NDM and microcephaly),300148;diabetes;epilepsy;hypogonadism;intellectual disability;hypogenitalism;central obesity Diabetes mellitus;HP:0000819 28055140 False 3 100;0;0 0.224 False ENSG00000130741 ENSG00000130741 HGNC:3267 FOXP3 gene FOXP3 Expert Review Green;UKGTN Monogenic Diabetes Endocrine disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome MONDO:0010580 Diabetes mellitus;HP:0000819 11137992;32234571;11137993;33614561 False 3 100;0;0 0.224 True ENSG00000049768 ENSG00000049768 HGNC:6106 GATA4 gene GATA4 Expert Review Green;NHS GMS;UKGTN Monogenic Diabetes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neonatal diabetes mellitus MONDO:0016391 Diabetes mellitus;HP:0000819 27810688;24696446;20854389 False 3 50;50;0 0.224 True ENSG00000136574 ENSG00000136574 HGNC:4173 GATA6 gene GATA6 Expert Review Green;NHS GMS Monogenic Diabetes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown pancreatic hypoplasia-diabetes-congenital heart disease syndrome MONDO:0010802 Diabetes mellitus;HP:0000819 25706805;25708516;25356219;22158542;27098067;23635550;22806356;24310933;23223019;22962692;26210631;24433315;23639568 False 3 100;0;0 0.224 True ENSG00000141448 ENSG00000141448 HGNC:4174 GCK gene GCK Expert Review Green;NHS GMS Monogenic Diabetes Endocrine disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Diabetes mellitus, noninsulin-dependent, late onset, AD (MIM#125853);Diabetes mellitus, permanent neonatal 1, AR (MIM#606176);Hyperinsulinemic hypoglycemia, familial, 3, AD (MIM#602485);MODY, type II, AD (MIM#125851) Diabetes mellitus;HP:0000819 19790256 False 3 100;0;0 0.224 True ENSG00000106633 ENSG00000106633 HGNC:4195 GLIS3 gene GLIS3 Expert Review Green;UKGTN Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal neonatal diabetes mellitus with congenital hypothyroidism MONDO:0012436 Diabetes mellitus;HP:0000819 16715098;21139041;35394098 False 3 100;0;0 0.224 True ENSG00000107249 ENSG00000107249 HGNC:28510 HNF1A gene HNF1A Expert Review Green;NHS GMS Monogenic Diabetes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3;Maturity-Onset Diabetes Of The Young;MODY, type III, 600496;Maturity-onset diabetes of the young (MODY);MODY, type III, 600496{Diabetes mellitus, noninsulin-dependent, 2}, 125853{Diabetes mellitus, insulin-dependent}, 222100Hepatic adenoma, somatic, 142330Renal cell carcinoma, 144700Diabetes mellitus, insulin-dependent, 20, 612520;{Diabetes mellitus, noninsulin-dependent, 2}, 125853;Diabetes mellitus, insulin-dependent, 20, 612520;{Diabetes mellitus, insulin-dependent}, 222100;Maturity Onset Diabetes of the Young;MODY3 Diabetes mellitus;HP:0000819 False 3 100;0;0 0.224 False ENSG00000135100 ENSG00000135100 HGNC:11621 HNF1B gene HNF1B Expert Review Green;NHS GMS Monogenic Diabetes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted renal cysts and diabetes syndrome MONDO:0007669 Diabetes mellitus;HP:0000819 25536396;9703339;10484768 False 3 100;0;0 0.224 True ENSG00000108753 ENSG00000275410 HGNC:11630 HNF4A gene HNF4A Expert Review Green;NHS GMS Monogenic Diabetes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young 616026;Maturity-Onset Diabetes Of The Young, Type 1;MODY1, 125850;{Diabetes mellitus, noninsulin-dependent}, 125853 Diabetes mellitus;HP:0000819 28242437;8945471;11590126 False 3 100;0;0 0.224 True ENSG00000101076 ENSG00000101076 HGNC:5024 IER3IP1 gene IER3IP1 Expert Review Green;UKGTN Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231;Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647 Diabetes mellitus;HP:0000819 22991235;24138066;21835305 False 3 100;0;0 0.224 True ENSG00000134049 ENSG00000134049 HGNC:18550 IL2RA gene IL2RA Expert Review;Expert Review Green;NHS GMS Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Neoantal diabetes, congenital hypothyrodism (multiple autoimmune) Recessive;{Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942;insulin-dependent diabetes mellitus at 8-weeks;IPEX-like syndrome;neonatal diabetes Diabetes mellitus;HP:0000819 17196245 False 3 0;100;0 0.224 False ENSG00000134460 ENSG00000134460 HGNC:6008 INS gene INS Expert Review Green;NHS GMS Monogenic Diabetes Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal diabetes mellitus, permanent neonatal 4 MONDO:0030089;maturity-onset diabetes of the young type 10 MONDO:0013240 Diabetes mellitus;HP:0000819 17855560;18451997;18162506;18192540;32034745;30182532 False 3 100;0;0 0.224 True ENSG00000254647 ENSG00000254647 HGNC:6081 INSR gene INSR Expert Review Green;NHS GMS Monogenic Diabetes Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal insulin-resistance syndrome type A MONDO:0012520;Rabson-Mendenhall syndrome MONDO:0009874;Donohue syndrome MONDO:0009517 Diabetes mellitus;HP:0000819 34965699;8288049;28765322 False 3 100;0;0 0.224 True ENSG00000171105 ENSG00000171105 HGNC:6091 ITCH gene ITCH Expert Review Green;Victorian Clinical Genetics Services Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245 Diabetes mellitus;HP:0000819 20170897;31091003;32356405;30705142;33894394 False 3 100;0;0 0.224 True ENSG00000078747 ENSG00000078747 HGNC:13890 KCNJ11 gene KCNJ11 Expert Review Green;NHS GMS Monogenic Diabetes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted permanent neonatal diabetes mellitus MONDO:0100164 Diabetes mellitus;HP:0000819 30086875;20922570;28824061;15115830;23626843 False 3 100;0;0 0.224 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000187486 ENSG00000187486 HGNC:6257 LIPE gene LIPE Expert list;Expert Review Green Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal LIPE-related familial partial lipodystrophy, MONDO:0014431 Diabetes mellitus;HP:0000819 27862896;25475467;24848981 False 3 100;0;0 0.224 True ENSG00000079435 ENSG00000079435 HGNC:6621 LMNA gene LMNA Expert Review Green;NHS GMS Monogenic Diabetes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules;Severe insulin resistance, partial lipodystrophy and diabetes;FPLD2;LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2;Lipodystrophy, familial partial, 2, 151660 Diabetes mellitus;HP:0000819 24002959;26775134 False 3 100;0;0 0.224 False ENSG00000160789 ENSG00000160789 HGNC:6636 LRBA gene LRBA Expert Review;Expert Review Green Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 8, with autoimmunity Diabetes mellitus;HP:0000819 25468195;25479458;26206937;26745254;27057999 False 3 100;0;0 0.224 False ENSG00000198589 ENSG00000198589 HGNC:1742 MAFA gene MAFA Expert Review Green;Other Monogenic Diabetes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Insulinomatosis and diabetes mellitus, OMIM #:147630 Diabetes mellitus;HP:0000819 29339498 False 3 100;0;0 0.224 False ENSG00000182759 ENSG00000182759 HGNC:23145 MFN2 gene MFN2 ClinGen;Expert Review Green Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Multiple symmetric lipomatosis with partial lipodystrophy, MONDO:1060153 Diabetes mellitus;HP:0000819 8458227, 26114802, 26085578, 37162328, 28414270, 30158064 False 3 100;0;0 0.224 True ENSG00000116688 ENSG00000116688 HGNC:16877 MIA3 gene MIA3 Expert Review Green;Literature Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Ondontochondrodysplasia 2 with hearing loss and diabetes , MIM#619269 Diabetes mellitus;HP:0000819 32101163;33778321;40948380;40119123 False 3 100;0;0 0.224 True ENSG00000154305 ENSG00000154305 HGNC:24008 MNX1 gene MNX1 Expert Review Green;UKGTN Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Permanent neonatal diabetes mellitus, MONDO:0100164, MNX1-related Diabetes mellitus;HP:0000819 24411943;23562494;26534984 False 3 100;0;0 0.224 True ENSG00000130675 ENSG00000130675 HGNC:4979 MT-TL1 gene MT-TL1 Expert list;Expert Review Green Monogenic Diabetes Endocrine disorders MITOCHONDRIAL Mitochondrial disease (MONDO:0044970), MT-TL1-related Diabetes mellitus;HP:0000819 9323566;12221518;20471262;23220830;23273904;24338029;23582502;11271374;23258140;14749274;16019720 False 3 100;0;0 0.224 True ENSG00000209082 ENSG00000209082 HGNC:7490 MT-TS2 gene MT-TS2 Expert list;Expert Review Green Monogenic Diabetes Endocrine disorders MITOCHONDRIAL Mitochondrial disease (MONDO:0044970), MT-TS2-related Diabetes mellitus;HP:0000819 9792552;10090882;16950817;21257182;22369973;22378285 False 3 100;0;0 0.224 True ENSG00000210184 ENSG00000210184 HGNC:7498 MT-TT gene MT-TT Expert list;Expert Review Green Monogenic Diabetes Endocrine disorders MITOCHONDRIAL Mitochondrial disease (MONDO:0044970), MT-TT-related Diabetes mellitus;HP:0000819 32083134;8769114;9367299;1645537;8511015;22638997;29760464;30236074;28187756;35808913 False 3 50;50;0 0.224 True ENSG00000210195 ENSG00000210195 HGNC:7499 MT-TV gene MT-TV Expert list;Expert Review Green Monogenic Diabetes Endocrine disorders MITOCHONDRIAL Mitochondrial disease (MONDO:0044970), MT-TV-related Diabetes mellitus;HP:0000819 9450773;12056939;19252805;15320572;18314141;24691472;39468830 False 3 100;0;0 0.224 True ENSG00000210077 ENSG00000210077 HGNC:7500 MT-TW gene MT-TW Expert list;Expert Review Green Monogenic Diabetes Endocrine disorders MITOCHONDRIAL Mitochondrial disease (MONDO:0044970), MT-TW-related Diabetes mellitus;HP:0000819 7695240;9266739;9673981;12776230;15054399;18337306;19809478;26524491;23841600;30937556 False 3 100;0;0 0.224 True ENSG00000210117 ENSG00000210117 HGNC:7501 NEUROD1 gene NEUROD1 Expert Review Green;NHS GMS Monogenic Diabetes Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Monogenic diabetes, MONDO:0015967 Diabetes mellitus;HP:0000819 20573748;10545951;26773576;26669242;12200761;30259503 False 3 100;0;0 0.224 True ENSG00000162992 ENSG00000162992 HGNC:7762 NEUROG3 gene NEUROG3 Expert Review Green;UKGTN Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal congenital malabsorptive diarrhea 4 MONDO:0012479 Diabetes mellitus;HP:0000819 25650326;26288179 False 3 100;0;0 0.224 True ENSG00000122859 ENSG00000122859 HGNC:13806 NKX2-2 gene NKX2-2 Expert Review Green;UKGTN Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Syndromic neonatal diabetes, with severe developmental delay, hypotonia, cortical blindness, hearing impairment Diabetes mellitus;HP:0000819 24411943;9584121 False 3 100;0;0 0.224 True ENSG00000125820 ENSG00000125820 HGNC:7835 ONECUT1 gene ONECUT1 Expert Review Green;Literature Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Syndromic diabetes;Neonatal diabetes mellitus MONDO:0016391 Diabetes mellitus;HP:0000819 37639628;34663987;10825208 False 3 50;50;0 0.224 True ENSG00000169856 ENSG00000169856 HGNC:8138 PCBD1 gene PCBD1 Expert Review Green;NHS GMS Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, D, 264070;Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty) Diabetes mellitus;HP:0000819 24204001;24848070 False 3 100;0;0 0.224 True ENSG00000166228 ENSG00000166228 HGNC:8646 PDIA6 gene PDIA6 Expert Review Green;Literature Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal multiple congenital anomalies, MONDO:0019042, PDIA6-related Diabetes mellitus;HP:0000819 40974269;35856135;33495992 False 3 33;67;0 0.224 True ENSG00000143870 ENSG00000143870 HGNC:30168 PDX1 gene PDX1 Expert Review Green;NHS GMS Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal maturity-onset diabetes of the young type 4 MONDO:0011667 Diabetes mellitus;HP:0000819 9326926;10545531;10720084;12970316;20009086;19496967 False 3 100;0;0 0.224 True ENSG00000139515 ENSG00000139515 HGNC:6107 PIK3R1 gene PIK3R1 Expert Review Green;NHS GMS Monogenic Diabetes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted SHORT syndrome MONDO:0010026;Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome, MIM#269880 Diabetes mellitus;HP:0000819 23810378;32879144;32602265;3651536;34249805;32439336 False 3 100;0;0 0.224 True Other - please provide details in the comments ENSG00000145675 ENSG00000145675 HGNC:8979 PLA2G16 gene PLA2G16 Expert Review Green;Literature Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Lipodystrophy, familial partial, type 9, MIM# 620683 Diabetes mellitus;HP:0000819 PMID: 37919452 False 3 100;0;0 0.224 True ENSG00000176485 ENSG00000176485 HGNC:17825 PLIN1 gene PLIN1 Expert Review Green;NHS GMS Monogenic Diabetes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted PLIN1-related familial partial lipodystrophy, MONDO:0013478 Diabetes mellitus;HP:0000819 21345103;25114292;29747582;31504636;11371650 False 3 50;50;0 0.224 True ENSG00000166819 ENSG00000166819 HGNC:9076 POC1A gene POC1A Expert Review Green;Victorian Clinical Genetics Services Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, MONDO:0013894 Diabetes mellitus;HP:0000819 22840364;22840363;26374189;26162852;26791357;39662966 False 3 100;0;0 0.224 False ENSG00000164087 ENSG00000164087 HGNC:24488 POC5 gene POC5 Expert Review Green;Literature Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Ciliopathy, MONDO:0005308, POC5-related Diabetes mellitus;HP:0000819 40590205;29272404 False 3 100;0;0 0.224 True ENSG00000152359 ENSG00000152359 HGNC:26658 POLD1 gene POLD1 Expert Review Green;NHS GMS Monogenic Diabetes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted mandibular hypoplasia-deafness-progeroid syndrome MONDO:0014157 Diabetes mellitus;HP:0000819 23770608;33369179;32826474;30023403;29199204;28791128 False 3 100;0;0 0.224 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000062822 ENSG00000062822 HGNC:9175 PPARG gene PPARG Expert Review Green;NHS GMS Monogenic Diabetes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Insulin resistance, severe, digenic;FPLD3;Obesity, severe, 601665;{Diabetes, type 2}, 125853;Lipodystrophy, familial partial, type 3;Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension;Insulin resistance, severe, digenic 604367;[Obesity, resistance to];Lipodystrophy, familial partial, type 3, 604367;Insulin resistance, severe, digenic, 604367;Lipodystrophy, familial partial, type 3 604367;LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3;Carotid intimal medial thickness 1, 609338 Diabetes mellitus;HP:0000819 False 3 0;0;100 0.224 False ENSG00000132170 ENSG00000132170 HGNC:9236 PTF1A gene PTF1A Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Diabetes mellitus, permanent neonatal, with cerebellar agenesis, MIM#609069 Diabetes mellitus;HP:0000819 24212882;21749365;10507728;15543146;19650412;37854477 False 3 100;0;0 0.224 True ENSG00000168267 ENSG00000168267 HGNC:23734 RFX6 gene RFX6 Expert list;Expert Review Green;NHS GMS Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Mitchell-Riley syndrome, 615710;Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities;recessive syndromic diabetes and autosomal dominant MODY Diabetes mellitus;HP:0000819 27167055;27185633;26770845;26761945;26264437;26559129;25048417 False 3 100;0;0 0.224 False ENSG00000185002 ENSG00000185002 HGNC:21478 RNU4ATAC gene RNU4ATAC Expert Review Green;Victorian Clinical Genetics Services Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal RNU4ATAC spectrum disorder MONDO:0100558;Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710);Roifman syndrome (MIM# 616651);Lowry-Wood syndrome, MIM# 226960 Diabetes mellitus;HP:0000819 23794361;26522830;30455926;29265708;12605445 False 3 100;0;0 0.224 False ENSG00000264229 ENSG00000264229 HGNC:34016 RNU6ATAC gene RNU6ATAC Expert Review Green;Literature Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Syndromic disease, MONDO:0002254, RNU6ATAC-related;neonatal diabetes Diabetes mellitus;HP:0000819 40975062;41808409 False 3 33;33;33 0.224 True ENSG00000221676 ENSG00000221676 HGNC:34017 SLC19A2 gene SLC19A2 Expert Review Green;UKGTN Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal thiamine-responsive megaloblastic anemia syndrome MONDO:0009575 Diabetes mellitus;HP:0000819 10391221;14994241;22369132;35114785 False 3 100;0;0 0.224 True ENSG00000117479 ENSG00000117479 HGNC:10938 SLC29A3 gene SLC29A3 Expert Review Green;NHS GMS Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Histiocytosis-lymphadenopathy plus syndrome, MIM#602782 Diabetes mellitus;HP:0000819 19336477;22238637;38163427;24894595 False 3 100;0;0 0.224 True ENSG00000198246 ENSG00000198246 HGNC:23096 SLC2A2 gene SLC2A2 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal "Fanconi-Bickel syndrome, MIM# 227810" Diabetes mellitus;HP:0000819 PMID: 23456528;22831748;22660720 False 3 100;0;0 0.224 True ENSG00000163581 ENSG00000163581 HGNC:11006 SMPD4 gene SMPD4 Expert Review Green;Literature Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies MIM#618622 Diabetes mellitus;HP:0000819 PMID: 36732302 False 3 100;0;0 0.224 True ENSG00000136699 ENSG00000136699 HGNC:32949 STAT1 gene STAT1 Expert Review;Expert Review Green Monogenic Diabetes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome MONDO:0013599 Diabetes mellitus;HP:0000819 23534974;33027576;27114460 False 3 50;50;0 0.224 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 STAT3 gene STAT3 Expert Review Green;UKGTN Monogenic Diabetes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted STAT3-related early-onset multisystem autoimmune disease MONDO:0014414 Diabetes mellitus;HP:0000819 25038750;25359994;38020118;30825606 False 3 100;0;0 0.224 True 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 TMEM167A gene TMEM167A Expert Review Green;Literature Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, epilepsy, and diabetes syndrome MONDO:0100328, TMEM167A-related Diabetes mellitus;HP:0000819 PMID: 40924476 False 3 100;0;0 0.224 True ENSG00000174695 ENSG00000174695 HGNC:28330 TRMT10A gene TRMT10A Expert Review Green;NHS GMS Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, short stature, and impaired glucose metabolism 1, 616033 Diabetes mellitus;HP:0000819 34541035;24204302;25053765;26297882;35137278 False 3 100;0;0 0.224 True ENSG00000145331 ENSG00000145331 HGNC:28403 WFS1 gene WFS1 Expert Review Green;NHS GMS Monogenic Diabetes Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Wolfram-like syndrome, autosomal dominant, 614296;Wolfram syndrome, 222300;Deafness, autosomal dominant 6/14/38, 600965;?Cataract 41,116400;{Diabetes mellitus, noninsulin-dependent, association with}, 125853;Deafness,autosomal dominant 6/14/38, 600965;{Diabetes mellitus, noninsulin-dependent,association with};diabetes insipidus or optic atrophy Diabetes mellitus;HP:0000819 27185633;27217304 False 3 100;0;0 0.224 False ENSG00000109501 ENSG00000109501 HGNC:12762 WRN gene WRN Expert Review Green;Victorian Clinical Genetics Services Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Werner syndrome, MIM# 277700;MONDO:0010196 Diabetes mellitus;HP:0000819 28476236;8602509;8968742;9012406;20301687 False 3 100;0;0 0.224 True ENSG00000165392 ENSG00000165392 HGNC:12791 YIPF5 gene YIPF5 Expert Review Green;Literature Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278 Diabetes mellitus;HP:0000819 33164986 False 3 100;0;0 0.224 True ENSG00000145817 ENSG00000145817 HGNC:24877 ZBTB20 gene ZBTB20 Expert Review Green;NHS GMS Monogenic Diabetes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Primrose syndrome MONDO:0009798;Primrose syndrome (tall stature, macrocephaly, intellectual disability, disturbed behaviour, unusual facial features, diabetes, deafness, progressive muscle wasting and ectopic calcifications);Primrose syndrome, 259050 Diabetes mellitus;HP:0000819 20644156;27061120;25017102;29737001;38087819;32473227;30637921;32266967 False 3 100;0;0 0.224 True ENSG00000181722 ENSG00000181722 HGNC:13503 ZFP57 gene ZFP57 Expert Review Green;NHS GMS Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Diabetes mellitus, transient neonatal, 1, MIM#601410 Diabetes mellitus;HP:0000819 18622393;27075368;23150280;30315371;35218690;28334746 False 3 100;0;0 0.224 True ENSG00000204644 ENSG00000204644 HGNC:18791 ZMPSTE24 gene ZMPSTE24 Expert Review Green Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Mandibuloacral dysplasia with type B lipodystrophy, 608612 Diabetes mellitus;HP:0000819 12913070;15317753;20034068;16297189;18435794 False 3 100;0;0 0.224 False ENSG00000084073 ENSG00000084073 HGNC:12877 ZNF808 gene ZNF808 Expert Review Green;Literature Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Pancreatic agenesis 3, MIM# 620991 Diabetes mellitus;HP:0000819 PMID: 37308312 False 3 100;0;0 0.224 True ENSG00000198482 ENSG00000198482 HGNC:33230 CNOT1 gene CNOT1 Expert Review Amber;Literature Monogenic Diabetes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holoprosencephaly 12 with or without pancreatic agenesis MONDO:0032787 Diabetes mellitus;HP:0000819 PMID: 31006513 False 2 50;50;0 0.224 True ENSG00000125107 ENSG00000125107 HGNC:7877 EPHX1 gene EPHX1 Expert Review Amber;Literature Monogenic Diabetes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary lipodystrophy, MONDO:0020087, EPHX1-related Diabetes mellitus;HP:0000819 34342583 False 2 0;100;0 0.224 True ENSG00000143819 ENSG00000143819 HGNC:3401 FICD gene FICD Expert Review Amber;Literature Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Monogenic diabetes, MONDO:0015967, FICD-related Diabetes mellitus;HP:0000819 36704923;36136088 False 2 0;100;0 0.224 True ENSG00000198855 ENSG00000198855 HGNC:18416 MANF gene MANF Expert Review;Expert Review Amber Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Diabetes, deafness, developmental delay, and short stature syndrome, MIM# 620651 Diabetes mellitus;HP:0000819 26077850;33500254;34815294 False 2 0;100;0 0.224 True ENSG00000145050 ENSG00000145050 HGNC:15461 NSMCE2 gene NSMCE2 Expert Review Amber;Literature Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 10, MONDO:0014991 Diabetes mellitus;HP:0000819 25105364 False 2 0;100;0 0.224 True ENSG00000156831 ENSG00000156831 HGNC:26513 PCYT1A gene PCYT1A Expert Review Amber;Victorian Clinical Genetics Services Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Lipodystrophy, congenital generalized, type 5, MIM# 620680 Diabetes mellitus;HP:0000819 24889630 False 2 0;100;0 0.224 True ENSG00000161217 ENSG00000161217 HGNC:8754 PPP1R15B gene PPP1R15B Expert Review Amber;NHS GMS Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability,616817 Diabetes mellitus;HP:0000819 26159176;26307080;27640355 False 2 0;100;0 0.224 True ENSG00000158615 ENSG00000158615 HGNC:14951 TARS2 gene TARS2 Expert List;Expert Review Amber Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation defect type 21, MONDO:0014398 Diabetes mellitus;HP:0000819 39509107 False 2 0;100;0 0.224 True ENSG00000143374 ENSG00000143374 HGNC:30740 ISCA-37432-Loss region Expert list;Expert Review Green;Expert list Monogenic Diabetes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Chromosome 17q12 deletion syndrome MIM#614527;Renal cysts and diabetes (RCAD) syndrome" Diabetes mellitus;HP:0000819 PMID: 19844256 False 3 100;0;0 0.224 False 17 36458167 37854617 3 80 cnv_loss Chromosome 17q12 deletion syndrome ISCA-37442-Gain region Expert list;Expert Review Green;Expert Review Green;Expert list Monogenic Diabetes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Diabetes mellitus, transient neonatal 1, MIM# 601410" Diabetes mellitus;HP:0000819 8842729 False 3 100;0;0 0.224 False 6 143922155 144095424 3 80 cnv_gain Chromosome 6q24-related transient diabetes mellitus, neonatal