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 Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Neonatal diabetes Endocrinology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperinsulinemic hypoglycemia, familial, 1, OMIM:256450;Hypoglycemia of infancy, leucine-sensitive, OMIM:240800;Diabetes mellitus, transient neonatal 2, OMIM:610374;Diabetes mellitus, noninsulin-dependent, OMIM:125853;Diabetes mellitus, permanent neonatal 3, with or without neurologic features, OMIM:618857 False 3 100;0;0 5.23 False ENSG00000006071 ENSG00000006071 HGNC:59 BSCL2 gene BSCL2 Expert Review;Expert Review Green;NHS GMS Neonatal diabetes Endocrinology BIALLELIC, autosomal or pseudoautosomal Congenital generalised lipodystrophy, severe insulin resistance and diabetes;Neonatal diabetes and generalised lipodystrophy;Lipodystrophy, congenital generalized, type 2, OMIM:269700 11479539 False 3 100;0;0 5.23 False ENSG00000168000 ENSG00000168000 HGNC:15832 CNOT1 gene CNOT1 Expert review;Expert Review Green;NHS GMS Neonatal diabetes Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holoprosencephaly 12, with or without pancreatic agenesis, OMIM:618500;holoprosencephaly 12 with or without pancreatic agenesis, MONDO:0032787 31006513;35481434;31006510 False 3 100;0;0 5.23 False Other ENSG00000125107 ENSG00000125107 HGNC:7877 EIF2AK3 gene EIF2AK3 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS;UKGTN Neonatal diabetes Endocrinology BIALLELIC, autosomal or pseudoautosomal Wolcott-Rallison syndrome, OMIM:226980 (includes onset of diabetes in neonatal period/ early infancy) 19837917 False 3 100;0;0 5.23 False ENSG00000172071 ENSG00000172071 HGNC:3255 EIF2B1 gene EIF2B1 Expert review;Expert Review Green;NHS GMS Neonatal diabetes Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Permanent neonatal/early onset diabetes and transient liver dysfunction 31882561 False 3 100;0;0 5.23 False ENSG00000111361 ENSG00000111361 HGNC:3257 EIF2S3 gene EIF2S3 Expert Review Green;NHS GMS Neonatal diabetes Endocrinology X-LINKED: hemizygous mutation in males, biallelic mutations in females diabetes mellitus (disease), MONDO:0005015;MEHMO syndrome, OMIM:300148 28055140 False 3 100;0;0 5.23 False ENSG00000130741 ENSG00000130741 HGNC:3267 FOXP3 gene FOXP3 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS;UKGTN Neonatal diabetes Endocrinology X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, OMIM:304790 (includes Insulin-dependent diabetes mellitus (type I)) 25187107;26918796;12750858;17635943 False 3 100;0;0 5.23 False ENSG00000049768 ENSG00000049768 HGNC:6106 GATA4 gene GATA4 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS;UKGTN Neonatal diabetes Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, MONDO:0010802;permanent neonatal diabetes melllitus, MONDO:0100164;Transient neonatal diabetes mellitus (disease), MONDO:0020525 24696446;20854389;27810688 False 3 100;0;0 5.23 False ENSG00000136574 ENSG00000136574 HGNC:4173 GATA6 gene GATA6 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS;UKGTN Neonatal diabetes Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pancreatic agenesis and congenital heart defects, OMIM:600001;neonatal diabetes mellitus, MONDO:0016391 22158542;23223019;28049534 False 3 100;0;0 5.23 False ENSG00000141448 ENSG00000141448 HGNC:4174 GCK gene GCK Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Neonatal diabetes Endocrinology BOTH monoallelic and biallelic, autosomal or pseudoautosomal MODY, type II, OMIM:125851;Diabetes mellitus, noninsulin-dependent, late onset, OMIM:125853;Hyperinsulinemic hypoglycemia, familial, 3, OMIM:602485;Diabetes mellitus, permanent neonatal 1, OMIM:606176;Transient Neonatal Diabetes Mellitus (disease), MONDO:0020525 (recessive) False 3 100;0;0 5.23 False ENSG00000106633 ENSG00000106633 HGNC:4195 GLIS3 gene GLIS3 Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Neonatal diabetes Endocrinology BIALLELIC, autosomal or pseudoautosomal Diabetes mellitus, neonatal, with congenital hypothyroidism, OMIM:610199 False 3 100;0;0 5.23 False ENSG00000107249 ENSG00000107249 HGNC:28510 HNF1B gene HNF1B Eligibility statement prior genetic testing;Expert Review Green;NHS GMS;UKGTN Neonatal diabetes Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Transient neonatal diabetes mellitus (disease), MONDO:0020525;permanent neonatal diabetes mellitus, MONDO:0100164;Type 2 diabetes mellitus, OMIM:125853;transient neonatal diabetes, pancreatic atrophy, mild exocrine insufficiency and low BW 15181075;26997508;17116179;16207896;21993633;15930087 False 3 100;0;0 5.23 False ENSG00000108753 ENSG00000275410 HGNC:11630 IER3IP1 gene IER3IP1 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS;UKGTN Neonatal diabetes Endocrinology BIALLELIC, autosomal or pseudoautosomal Microcephaly, epilepsy and diabetes syndrome, OMIM:614231 22991235;21835305;24138066 False 3 100;0;0 5.23 False ENSG00000134049 ENSG00000134049 HGNC:18550 IL2RA gene IL2RA Expert Review;Expert Review Green;NHS GMS Neonatal diabetes Endocrinology BIALLELIC, autosomal or pseudoautosomal neonatal diabetes mellitus, MONDO:0016391;insulin-dependent diabetes mellitus at 8-weeks;IPEX-like syndrome;{Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, OMIM:601942;neonatal diabetes mellitus with congenital hypothyroidism, MONDO:0012436 17196245 False 3 67;0;33 5.23 False ENSG00000134460 ENSG00000134460 HGNC:6008 INS gene INS Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Neonatal diabetes Endocrinology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperproinsulinemia, OMIM:616214;Maturity-onset diabetes of the young, type 10, 613370;Diabetes mellitus, insulin-dependent, 2, 125852;Transient Neonatal Diabetes Mellitus (disease), MONDO:0020525 (Dominant/Recessive);Permanent Neonatal diabetes mellitus, MONDO:010016 26101329;17855560 False 3 100;0;0 5.23 False ENSG00000254647 ENSG00000254647 HGNC:6081 INSR gene INSR Expert Review Green;NHS GMS;Other Neonatal diabetes Endocrinology BOTH monoallelic and biallelic, autosomal or pseudoautosomal neonatal diabetes;Donohue syndrome, OMIM:246200, Hyperinsulinemic hypoglycemia, familial, 5, OMIM:609968;Rabson-Mendenhall syndrome, OMIM:262190 False 3 100;0;0 5.23 False ENSG00000171105 ENSG00000171105 HGNC:6091 KCNJ11 gene KCNJ11 Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Neonatal diabetes Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperinsulinemic hypoglycemia, familial, 2, 601820;Diabetes, permanent neonatal 2, with or without neurologic features, OMIM:618856;{Diabetes mellitus, type 2, susceptibility to}, OMIM:125853;Diabetes mellitus, transient neonatal, 3, OMIM:610582;Maturity-onset diabetes of the young, type 13, OMIM:616329 False 3 100;0;0 5.23 False ENSG00000187486 ENSG00000187486 HGNC:6257 LRBA gene LRBA Expert Review;Expert Review Green;NHS GMS Neonatal diabetes Endocrinology BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 8, with autoimmunity, OMIM:614700;IPEX-like syndrome;Neonatal diabetes and additional autoimmunity 25468195;26745254;28473463 False 3 100;0;0 5.23 False ENSG00000198589 ENSG00000198589 HGNC:1742 MNX1 gene MNX1 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS;UKGTN Neonatal diabetes Endocrinology BIALLELIC, autosomal or pseudoautosomal Neonatal Diabetes Mellitus, MONDO:0016391;Permanent neonatal diabetes mellitus, MONDO:0100164;Currarino syndrome, OMIM:176450 24411943;23562494 False 3 100;0;0 5.23 False ENSG00000130675 ENSG00000130675 HGNC:4979 NEUROD1 gene NEUROD1 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS;UKGTN Neonatal diabetes Endocrinology BIALLELIC, autosomal or pseudoautosomal permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, MONDO:0012192;Maturity-onset diabetes of the young 6, OMIM:606394;Neonatal diabetes and cerebellar agenesis, rocker bottom feet, poorly developed renal cortex and medulla, sacral agenesis, high imperforate anus 20573748 False 3 100;0;0 5.23 False ENSG00000162992 ENSG00000162992 HGNC:7762 NEUROG3 gene NEUROG3 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS;UKGTN Neonatal diabetes Endocrinology BIALLELIC, autosomal or pseudoautosomal Permanent neonatal diabetes mellitus, MONDO:0100164;Diarrhea 4, malabsorptive, congenital, OMIM:610370 21378176;21490072;21993633;25120094 False 3 100;0;0 5.23 False ENSG00000122859 ENSG00000122859 HGNC:13806 NKX2-2 gene NKX2-2 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS;UKGTN Neonatal diabetes Endocrinology BIALLELIC, autosomal or pseudoautosomal Neonatal diabetes mellitus, MONDO:0016391;Syndromic neonatal diabetes, with severe developmental delay, hypotonia, cortical blindness, hearing impairment 24411943 False 3 100;0;0 5.23 False ENSG00000125820 ENSG00000125820 HGNC:7835 ONECUT1 gene ONECUT1 Expert review;Expert Review Green;NHS GMS Neonatal diabetes Endocrinology BIALLELIC, autosomal or pseudoautosomal ONECUT1-associated neonatal diabetes;neonatal diabetes mellitus, MONDO:0016391 34663987 False 3 100;0;0 5.23 False ENSG00000169856 ENSG00000169856 HGNC:8138 PDX1 gene PDX1 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS;UKGTN Neonatal diabetes Endocrinology BIALLELIC, autosomal or pseudoautosomal Pancreatic agenesis 1, OMIM:260370;MODY, type IV, OMIM:606392;Permanent neonatal diabetes mellitus, MONDO:0100164;permanent neonatal diabetes mellitus associated with pancreas agenesis 8988180;9326926;19496967;20009086;2970316 False 3 100;0;0 5.23 False ENSG00000139515 ENSG00000139515 HGNC:6107 PTF1A gene PTF1A Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Neonatal diabetes Endocrinology BIALLELIC, autosomal or pseudoautosomal Pancreatic and cerebellar agenesis, OMIM:609069;Permanent neonatal diabetes mellitus, MONDO:0100164;Pancreatic agenesis 2, OMIM:615935 False 3 100;0;0 5.23 False ENSG00000168267 ENSG00000168267 HGNC:23734 RFX6 gene RFX6 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS;UKGTN Neonatal diabetes Endocrinology BIALLELIC, autosomal or pseudoautosomal Mitchell-Riley syndrome, OMIM:615710 (includes neonatal diabetes) 21215266;21965172;20148032;26264437 False 3 100;0;0 5.23 False ENSG00000185002 ENSG00000185002 HGNC:21478 SLC19A2 gene SLC19A2 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS;UKGTN Neonatal diabetes Endocrinology BIALLELIC, autosomal or pseudoautosomal Thiamine-responsive megaloblastic anemia syndrome, OMIM:249270;diabetes mellitus, MONDO:0005015 22369132;17659067 False 3 100;0;0 5.23 False ENSG00000117479 ENSG00000117479 HGNC:10938 SLC2A2 gene SLC2A2 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS;UKGTN Neonatal diabetes Endocrinology BIALLELIC, autosomal or pseudoautosomal Fanconi-Bickel syndrome, OMIM:227810;neonatal diabetes mellitus, MONDO:0016391;transient neonatal diabetes mellitus (disease), MONDO:0020525;permanent neonatal diabetes mellitus, MONDO:0100164 22660720;12029458;22060631 False 3 100;0;0 5.23 False ENSG00000163581 ENSG00000163581 HGNC:11006 STAT3 gene STAT3 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS;UKGTN Neonatal diabetes Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoimmune disease, multisystem, infantile-onset, 1, OMIM:615952 25038750 False 3 100;0;0 5.23 False ENSG00000168610 ENSG00000168610 HGNC:11364 TMEM167A gene TMEM167A Expert Review Green;Literature;NHS GMS Neonatal diabetes Endocrinology BIALLELIC, autosomal or pseudoautosomal Microcephaly, epilepsy, and diabetes syndrome, MONDO:0100328 40924476 False 3 100;0;0 5.23 False ENSG00000174695 ENSG00000174695 HGNC:28330 WFS1 gene WFS1 Expert Review Green;NHS GMS;Other Neonatal diabetes Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Wolfram-like syndrome, autosomal dominant, OMIM:614296 28468959 False 3 100;0;0 5.23 False ENSG00000109501 ENSG00000109501 HGNC:12762 YIPF5 gene YIPF5 Expert Review Green;Literature Neonatal diabetes Endocrinology BIALLELIC, autosomal or pseudoautosomal Microcephaly, epilepsy, and diabetes syndrome 2, OMIM:619278 33164986 False 3 100;0;0 5.23 False ENSG00000145817 ENSG00000145817 HGNC:24877 ZFP57 gene ZFP57 Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Neonatal diabetes Endocrinology BIALLELIC, autosomal or pseudoautosomal Diabetes mellitus, transient neonatal, 1, OMIM:601410 18622393 False 3 100;0;0 5.23 False ENSG00000204644 ENSG00000204644 HGNC:18791 ZNF808 gene ZNF808 Expert review;Expert Review Green;NHS GMS Neonatal diabetes Endocrinology BIALLELIC, autosomal or pseudoautosomal Pancreatic agenesis 3, OMIM:620991;neonatal diabetes mellitus, MONDO:0016391 False 3 100;0;0 5.23 False ENSG00000198482 ENSG00000198482 HGNC:33230 FICD gene FICD Expert review;Expert Review Amber Neonatal diabetes Endocrinology BIALLELIC, autosomal or pseudoautosomal Neonatal diabetes;Neonatal insulin-dependent diabetes mellitus, HP:0000857;severe neurodevelopmental delay, HP:0012758;skeletal abnormalities 36704923 False 2 0;0;0 5.23 False ENSG00000198855 ENSG00000198855 HGNC:18416 PAX4 gene PAX4 Expert Review Amber;Literature Neonatal diabetes Endocrinology BIALLELIC, autosomal or pseudoautosomal Diabetes mellitus, type 2, OMIM:125853;type 2 diabetes mellitus,MONDO:0005148 11723072;25951767;36595822;40614820;41475885 False 2 50;50;0 5.23 False Other ENSG00000106331 ENSG00000106331 HGNC:8618 PDIA6 gene PDIA6 Expert Review Amber;Literature Neonatal diabetes Endocrinology BIALLELIC, autosomal or pseudoautosomal Asphyxiating thoracic dystrophy (ATD) syndrome and infantile onset diabetes 33495992 False 2 0;100;0 5.23 False ENSG00000143870 ENSG00000143870 HGNC:30168 RNU4ATAC gene RNU4ATAC Expert Review Amber;Literature Neonatal diabetes Endocrinology BIALLELIC, autosomal or pseudoautosomal RNU4ATAC spectrum disorder, MONDO:0100558;neonatal diabetes;developmental delay;microcephaly;skeletal abnormalities;hypothyroidism;humoral immune defect;hepatic disorder;growth failure;failure to thrive;atopic dermatitis 41864208 False 2 100;0;0 5.23 False Other ENSG00000264229 ENSG00000264229 HGNC:34016 RNU6ATAC gene RNU6ATAC Expert Review Amber;Literature Neonatal diabetes Endocrinology BIALLELIC, autosomal or pseudoautosomal neonatal diabetes mellitus, MONDO:0016391;hypothyroidism;humoral immunue defect;hepatic disorder;growth failure;failure to thrive;skeletal abnormalities;atopic dermatitis;vitiligo;alopecia 41864208 False 2 100;0;0 5.23 False Other ENSG00000221676 ENSG00000221676 HGNC:34017 TARS2 gene TARS2 Expert Review Amber;Literature Neonatal diabetes Endocrinology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 21, OMIM:615918;combined oxidative phosphorylation defect type 21, MONDO:0014398 24827421;34508595;37454282;39394138;39509107 False 2 50;50;0 5.23 False Other ENSG00000143374 ENSG00000143374 HGNC:30740 ISCA-37442-Gain region Expert Review Green;ClinGen Neonatal diabetes Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 601410;Transient neonatal diabetes mellitus;Transient neonatal diabetes 10923638;8842729;10615957 False 3 0;0;0 5.23 False 6 143922155 144095424 3 60 cnv_gain 6q24 region (includes PLAGL1) Gain