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 BSCL2 gene BSCL2 Expert Review;Expert Review Green;NHS GMS DEMO Diabetes neonatal onset Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Congenital generalised lipodystrophy, severe insulin resistance and diabetes;Neonatal diabetes and generalised lipodystrophy;Lipodystrophy, congenital generalized, type 2, 269700 11479539 False 3 100;0;0 1.4 False ENSG00000168000 ENSG00000168000 HGNC:15832 EIF2AK3 gene EIF2AK3 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS;UKGTN DEMO Diabetes neonatal onset Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Wolcott-Rallison syndrome, 226980 (includes onset of diabetes in neonatal period/ early infancy) 19837917 False 3 100;0;0 1.4 False ENSG00000172071 ENSG00000172071 HGNC:3255 EIF2S3 gene EIF2S3 Expert Review Green;NHS GMS DEMO Diabetes neonatal onset Disorders of unusual phenotypes Endocrine disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females diabetes;hypogonadism;MEHMO syndrome (X-linked NDM and microcephaly),300148;microcephaly;intellectual disability;epilepsy;central obesity;hypogenitalism 28055140 False 3 100;0;0 1.4 False ENSG00000130741 ENSG00000130741 HGNC:3267 FOXP3 gene FOXP3 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS;UKGTN DEMO Diabetes neonatal onset Disorders of unusual phenotypes Endocrine disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females IPEX syndrome;Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (includes Insulin-dependent diabetes mellitus (type I)) 25187107;17635943;26918796;12750858 False 3 100;0;0 1.4 False ENSG00000049768 ENSG00000049768 HGNC:6106 G6PD gene G6PD Expert Review Green;Literature DEMO Diabetes neonatal onset Disorders of unusual phenotypes Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal hemolytic anaemia 1234568 False 3 100;0;0 1.4 False ENSG00000160211 ENSG00000160211 HGNC:4057 GATA4 gene GATA4 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS;UKGTN DEMO Diabetes neonatal onset Disorders of unusual phenotypes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted transient neonatal diabetes melllitus;permanent neonatal diabetes melllitus;Neonatal diabetes, Pancreatic agenesis and/or congenital heart defects 24696446;27810688;20854389 False 3 100;0;0 1.4 False ENSG00000136574 ENSG00000136574 HGNC:4173 GATA6 gene GATA6 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS;UKGTN DEMO Diabetes neonatal onset Disorders of unusual phenotypes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pancreatic agenesis and congenital heart defects;Pancreatic agenesis and congenital heart defects, 600001;neonatal diabetes mellitus 28049534;23223019;22158542 False 3 100;0;0 1.4 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 DEMO Diabetes neonatal onset Disorders of unusual phenotypes Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Permanent neonatal diabetes;MODY, type II, 125851;Permanent Neonatal Diabetes Mellitus;Transient Neonatal Diabetes, Recessive;Diabetes mellitus, permanent neonatal, 606176;Diabetes mellitus, noninsulin-dependent, late onset, 125853;Fasting hyperglycaemia, permanent neonatal diabetes;Hyperinsulinemic hypoglycemia, familial, 3, 602485;Diabetes mellitus, gestational, 125851 False 3 100;0;0 1.4 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 DEMO Diabetes neonatal onset Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199;Neonatal Diabetes mellitus with congenital hypothyroidism False 3 100;0;0 1.4 False ENSG00000107249 ENSG00000107249 HGNC:28510 HNF1B gene HNF1B Eligibility statement prior genetic testing;Expert Review Green;NHS GMS;UKGTN DEMO Diabetes neonatal onset Disorders of unusual phenotypes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted permanent neonatal diabetes mellitus;Transient neonatal diabetes, pancreatic atrophy, mild exocrine insufficiency and low BW;Diabetes mellitus, noninsulin-dependent, 125853;Transient neonatal diabetes;transient neonatal diabetes mellitus (TNDM) 17116179;15181075;26997508;16207896;15930087;21993633 False 3 100;0;0 1.4 False ENSG00000108753 ENSG00000275410 HGNC:11630 IER3IP1 gene IER3IP1 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS;UKGTN DEMO Diabetes neonatal onset Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, epilepsy and diabetes syndrome, 614231;neonatal diabetes;permanent neonatal diabetes 24138066;21835305;22991235 False 3 100;0;0 1.4 False ENSG00000134049 ENSG00000134049 HGNC:18550 INS gene INS Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN DEMO Diabetes neonatal onset Disorders of unusual phenotypes Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Permanent Neonatal diabetes mellitus;Diabetes mellitus, permanent neonatal, 606176;Maturity-onset diabetes of the young, type 10, 613370;Hyperproinsulinemia, familial, with or without diabetes;Transient Neonatal Diabetes, Dominant/Recessive;Diabetes mellitus, insulin-dependent, 2, 125852;Diabetes mellitus, type 1, 125852 26101329;17855560 False 3 100;0;0 1.4 False ENSG00000254647 ENSG00000254647 HGNC:6081 INSR gene INSR Expert Review Green;NHS GMS;Other DEMO Diabetes neonatal onset Disorders of unusual phenotypes Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Donohue syndrome, 246200;neonatal diabetes False 3 100;0;0 1.4 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 DEMO Diabetes neonatal onset Disorders of unusual phenotypes Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Transient Neonatal Diabetes, Dominant;Isolated permanent neonatal diabetes;Diabetes Mellitus, Transient Neonatal, 3;Diabetes Mellitus, PermanentNeonatal;Transient Neonatal diabetes mellitus (Dominant);Diabetes mellitus, permanent neonatal, with neurologic features, 606176;isolated transient neonatal diabetes, neonatal diabetes and developmental delay;{Diabetes mellitus, type 2, susceptibility to}, 125853;Diabetes, permanent neonatal, 606176;Hyperinsulinemic hypoglycemia, familial, 2, 601820;Diabetes mellitus, transient neonatal, 3, 610582 False 3 100;0;0 1.4 False ENSG00000187486 ENSG00000187486 HGNC:6257 LRBA gene LRBA Expert Review;Expert Review Green;NHS GMS DEMO Diabetes neonatal onset Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Immunodysregulation and type 1 diabetes;Immunodeficiency, common variable, 8, with autoimmunity, 614700;IPEX-like syndrome;Neonatal diabetes and additional autoimmunity 25468195;28473463;26745254 False 3 100;0;0 1.4 False ENSG00000198589 ENSG00000198589 HGNC:1742 MNX1 gene MNX1 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS;UKGTN DEMO Diabetes neonatal onset Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal IUGR;Neonatal Diabetes;w w/o eatures of Currarrino syndrome and sacral agenesis;Permanent neonatal diabetes mellitus (PNDM);Recessive Neonatal diabetes;Currarino syndrome, 176450 23562494;24411943 False 3 100;0;0 1.4 False ENSG00000130675 ENSG00000130675 HGNC:4979 NEUROD1 gene NEUROD1 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS;UKGTN DEMO Diabetes neonatal onset Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Permanent neonatal diabetes and cerebellar agenesis;Maturity-onset diabetes of the young 6, 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 1.4 False ENSG00000162992 ENSG00000162992 HGNC:7762 NEUROG3 gene NEUROG3 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS;UKGTN DEMO Diabetes neonatal onset Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Syndromic neonatal diabetes with malabsorptive diarrhea (neurointestinal dysplasia, intrahepatic bilary tract, abnormalities of thyroid gland and CNS);congenital malabsorptive diarrhea and neonatal diabetes;Permanent neonatal diabetes and enteric anendocrinosis 21378176;25120094;21490072;21993633 False 3 100;0;0 1.4 False ENSG00000122859 ENSG00000122859 HGNC:13806 NKX2-2 gene NKX2-2 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS;UKGTN DEMO Diabetes neonatal onset Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Neonatal diabetes;Syndromic neonatal diabetes, with severe developmental delay, hypotonia, cortical blindness, hearing impairment 24411943 False 3 100;0;0 1.4 False ENSG00000125820 ENSG00000125820 HGNC:7835 PDX1 gene PDX1 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS;UKGTN DEMO Diabetes neonatal onset Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal pancreas agenesis;Permanent neonatal diabetes;permanent neonatal diabetes mellitus associated with pancreas agenesis;Pancreatic agenesis 1, 260370 2970316;20009086;8988180;19496967;9326926 False 3 100;0;0 1.4 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 DEMO Diabetes neonatal onset Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Permanent neonatal diabetes with cerebellar agenesis;Permanent neonatal diabetes mellitus (PNDM);Diabetes mellitus, permanent neonatal, with cerebellar agenesis, 609069 False 3 100;0;0 1.4 False ENSG00000168267 ENSG00000168267 HGNC:23734 RFX6 gene RFX6 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS;UKGTN DEMO Diabetes neonatal onset Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal pancreatic hypoplasia, gallbladder aplasia and intestinal atresia;Mitchell-Riley syndrome, 615710 (includes neonatal diabetes);Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities;Mitchell-Riley syndrome;Syndromic Neonatal diabetes 21215266;26264437;21965172;20148032 False 3 100;0;0 1.4 False ENSG00000185002 ENSG00000185002 HGNC:21478 SLC19A2 gene SLC19A2 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS;UKGTN DEMO Diabetes neonatal onset Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Thiamine responsive megaloblastic anaemia;Thiamine-responsive megaloblastic anemia syndrome, 249270;neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia (TRMA);permanent neonatal diabetes (PNDM);neonatal diabetes 22369132;17659067 False 3 100;0;0 1.4 False ENSG00000117479 ENSG00000117479 HGNC:10938 SLC2A2 gene SLC2A2 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS;UKGTN DEMO Diabetes neonatal onset Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal hepatomegaly, RTA and hypophosphatemic rickets;Fanconi-Bickel syndrome, 227810;neonatal diabetes mellitus;transient neonatal diabetes mellitus (TNDM);short stature;Fanconi Bickel Syndrome;permanent neonatal diabetes (PDNM);neonatal diabetes 22060631;12029458;22660720 False 3 100;0;0 1.4 False ENSG00000163581 ENSG00000163581 HGNC:11006 STAT3 gene STAT3 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS;UKGTN DEMO Diabetes neonatal onset Disorders of unusual phenotypes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neonatal diabetes and additional multi-organ autoimmunity;Neonatal diabetes and early-onset multi-organ autoimmune disease;permanent neonatal diabetes 25038750 False 3 100;0;0 1.4 False ENSG00000168610 ENSG00000168610 HGNC:11364 WFS1 gene WFS1 Expert Review Green;NHS GMS;Other DEMO Diabetes neonatal onset Disorders of unusual phenotypes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Wolfram syndrome, 222300;Syndromic neonatal diabetes 28468959 False 3 100;0;0 1.4 False ENSG00000109501 ENSG00000109501 HGNC:12762 ZFP57 gene ZFP57 Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN DEMO Diabetes neonatal onset Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Diabetes mellitus, transient neonatal, 1, 601410;Transient Neonatal Diabetes;Transient Neonatal Diabetes, Recessive 18622393 False 3 100;0;0 1.4 False ENSG00000204644 ENSG00000204644 HGNC:18791 ABCC8 gene ABCC8 Eligibility statement prior genetic testing;Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN DEMO Diabetes neonatal onset Disorders of unusual phenotypes Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Transient Neonatal Diabetes, Dominant;Isolated permanent neonatal diabetes;Diabetes mellitus, noninsulin-dependent, 125853;Diabetes mellitus, transient neonatal 2, 610374;Permanent Neonatal Diabetes Mellitus;Hyperinsulinemic hypoglycemia, familial, 1, 256450;transient neonatal diabetes (Dominant);Diabetes mellitus, permanent neonatal, 606176;isolated transient neonatal diabetes, neonatal diabetes and developmental delay;Permanent neonatal diabetes mellitus;Hypoglycemia of infancy, leucine-sensitive, 240800 False 2 100;0;0 1.4 False ENSG00000006071 ENSG00000006071 HGNC:59 AGPAT2 gene AGPAT2 Expert Review;Expert Review Red;NHS GMS DEMO Diabetes neonatal onset Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal neonatal diabetes mellitus Poovazhagi et al., Int J Diabetes Dev Ctries (January March 2013) 33(1):66 68, DOI 10.1007/s13410-012-0099-6 False 1 25;0;75 1.4 False ENSG00000169692 ENSG00000169692 HGNC:325 CISD2 gene CISD2 Expert Review Red;NHS GMS;Other DEMO Diabetes neonatal onset Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal False 1 0;0;100 1.4 False ENSG00000145354 ENSG00000145354 HGNC:24212 COQ2 gene COQ2 NHS GMS DEMO Diabetes neonatal onset Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal neonatal hyperglycaemia, Primary Coenzyme Q10 Deficiency False 1 50;0;50 1.4 False ENSG00000173085 ENSG00000173085 HGNC:25223 COQ9 gene COQ9 NHS GMS DEMO Diabetes neonatal onset Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Primary Coenzyme Q10 Deficiency;neonatal hyperglycaemia False 1 50;0;50 1.4 False ENSG00000088682 ENSG00000088682 HGNC:25302 IL2RA gene IL2RA Expert Review;Expert Review Red;NHS GMS DEMO Diabetes neonatal onset Disorders of unusual phenotypes Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neoantal diabetes, congenital hypothyrodism (multiple autoimmune) Recessive;IPEX-like syndrome;insulin-dependent diabetes mellitus at 8-weeks;{Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942;neonatal diabetes 17196245;1234567;67892689 False 1 67;0;33 1.4 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000134460 ENSG00000134460 HGNC:6008 LPL gene LPL NHS GMS DEMO Diabetes neonatal onset Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal lipoprotein lipase deficiency;transient neonatal diabetes 12408192 False 1 50;0;50 1.4 False ENSG00000175445 ENSG00000175445 HGNC:6677 ISCA-37442-Gain region ClinGen;Expert Review Green DEMO Diabetes neonatal onset Disorders of unusual phenotypes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 601410;Transient neonatal diabetes;Transient neonatal diabetes mellitus 8842729;10615957;10923638 False 3 0;0;0 1.4 False 6 143922155 144095424 3 60 cnv_gain 6q24 region (includes PLAGL1) Gain