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 permanent neonatal diabetes mellitus MONDO:0100164;transient neonatal diabetes mellitus MONDO:0020525 Diabetes mellitus;HP:0000819 21054355;32027066;32376986 False 3 100;0;0 0.136 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 0.136 True ENSG00000169692 ENSG00000169692 HGNC:325 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 0.136 True ENSG00000116127 ENSG00000116127 HGNC:428 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 0.136 True ENSG00000168000 ENSG00000168000 HGNC:15832 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 0.136 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 0.136 True ENSG00000173085 ENSG00000173085 HGNC:25223 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 0.136 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 0.136 True ENSG00000102580 ENSG00000102580 HGNC:9439 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 0.136 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 0.136 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 0.136 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 0.136 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 0.136 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 0.136 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 0.136 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 0.136 True ENSG00000107249 ENSG00000107249 HGNC:28510 HAMP gene HAMP Expert Review;Expert Review Green Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, type 2B 613313 Diabetes mellitus;HP:0000819 33861982;12469120;34828384;15198949;33016646 False 3 100;0;0 0.136 True ENSG00000105697 ENSG00000105697 HGNC:15598 HFE gene HFE Expert Review Green;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 3 100;0;0 0.136 True ENSG00000010704 ENSG00000010704 HGNC:4886 HFE2 gene HFE2 Expert Review;Expert Review Green Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, type 2A, 602390 Diabetes mellitus;HP:0000819 False 3 0;0;0 0.136 True ENSG00000168509 ENSG00000168509 HGNC:4887 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 0.136 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 0.136 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 0.136 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 0.136 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 0.136 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 0.136 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 0.136 True ENSG00000171105 ENSG00000171105 HGNC:6091 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 0.136 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 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 0.136 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 0.136 False ENSG00000198589 ENSG00000198589 HGNC:1742 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 0.136 True ENSG00000130675 ENSG00000130675 HGNC:4979 NEUROD1 gene NEUROD1 Expert Review Green;NHS GMS Monogenic Diabetes Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal maturity-onset diabetes of the young type 6 MONDO:0011668 Diabetes mellitus;HP:0000819 20573748;10545951;26773576;26669242 False 3 100;0;0 0.136 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 0.136 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 0.136 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 0.136 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 0.136 True ENSG00000166228 ENSG00000166228 HGNC:8646 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 0.136 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 0.136 True Other - please provide details in the comments ENSG00000145675 ENSG00000145675 HGNC:8979 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 0.136 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 0.136 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 0.136 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 0.136 False ENSG00000185002 ENSG00000185002 HGNC:21478 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 0.136 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 0.136 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 0.136 True ENSG00000163581 ENSG00000163581 HGNC:11006 SLC40A1 gene SLC40A1 Expert Review;Expert Review Green Monogenic Diabetes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hemochromatosis, type 4, MIM# 606069 Diabetes mellitus;HP:0000819 34601591;33341511;2258529 False 3 100;0;0 0.136 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 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 0.136 True ENSG00000136699 ENSG00000136699 HGNC:32949 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 0.136 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 TFR2 gene TFR2 Expert Review;Expert Review Green Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, type 3 604250 Diabetes mellitus;HP:0000819 10802645;12130528;35065677;29985876;26029709;24055163 False 3 100;0;0 0.136 True ENSG00000106327 ENSG00000106327 HGNC:11762 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 0.136 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 0.136 False ENSG00000109501 ENSG00000109501 HGNC:12762 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 0.136 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 0.136 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 0.136 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 0.136 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 0.136 True ENSG00000198482 ENSG00000198482 HGNC:33230 CEL gene CEL Expert Review Amber;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 19760265;21784842;27650499;18544793;17989309;24062244;16369531;25160620 False 2 0;0;100 0.136 True ENSG00000170835 ENSG00000170835 HGNC:1848 DYRK1B gene DYRK1B Expert Review Amber;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 2 0;100;0 0.136 True ENSG00000105204 ENSG00000105204 HGNC:3092 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 0.136 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 0.136 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 0.136 True ENSG00000145050 ENSG00000145050 HGNC:15461 PDIA6 gene PDIA6 Expert Review Amber;Literature Monogenic Diabetes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Asphyxiating thoracic dystrophy (ATD) syndrome and infantile onset diabetes Diabetes mellitus;HP:0000819 PMID: 33495992 False 2 0;100;0 0.136 True ENSG00000143870 ENSG00000143870 HGNC:30168 PLIN1 gene PLIN1 Expert Review Amber;NHS GMS Monogenic Diabetes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lipodystrophy, familial partial, type 4, 613877;Severe insulin resistance, partial lipodystrophy and diabetes Diabetes mellitus;HP:0000819 11371650;21345103;25695774;30020498 False 2 0;100;0 0.136 True ENSG00000166819 ENSG00000166819 HGNC:9076 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 0.136 True ENSG00000158615 ENSG00000158615 HGNC:14951 STAT1 gene STAT1 Expert Review;Expert Review Amber 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 False 2 0;100;0 0.136 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 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 0.136 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 0.136 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 0.136 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 0.136 False ENSG00000136573 ENSG00000136573 HGNC:1057 CAV1 gene CAV1 Expert Review Red Monogenic Diabetes Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Lipodystrophy, congenital generalized, type 3, 612526;Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome Diabetes mellitus;HP:0000819 18211975 False 1 0;50;50 0.136 True ENSG00000105974 ENSG00000105974 HGNC:1527 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 0.136 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 0.136 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 0.136 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 0.136 False ENSG00000176692 ENSG00000176692 HGNC:3801 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 0.136 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 0.136 True ENSG00000166035 ENSG00000166035 HGNC:6619 PAX4 gene PAX4 Expert Review Red;Radboud University Medical Center, Nijmegen;Royal Melbourne Hospital Monogenic Diabetes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Maturity-onset diabetes of the young, type IX MIM#612225 Diabetes mellitus;HP:0000819 17426099;14561778;25951767;21263211 False 1 67;0;33 0.136 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 0.136 True ENSG00000007372 ENSG00000007372 HGNC:8620