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;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Hyperinsulinemic hypoglycemia, familial, 1, 256450; Hypoglycemia of infancy, leucine-sensitive, 240800; Diabetes mellitus, transient neonatal 2,  610374; Diabetes mellitus, noninsulin-dependent, 125853; Diabetes mellitus, permanent neonatal, 6;Permanent Neonatal Diabetes Mellitus;Transient Neonatal Diabetes, Dominant;Permanent neonatal diabetes mellitus; transient neonatal diabetes (Dominant);DIABETES MELLITUS, NONINSULIN-DEPENDENT						False	3	100;0;0	1.69	False		ENSG00000006071	ENSG00000006071	HGNC:59													
AGPAT2	gene	AGPAT2	Expert Review;Expert Review Green	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	lipodystrophy				11967537;12765973		False	3	100;0;0	1.69	True		ENSG00000169692	ENSG00000169692	HGNC:325													
ALMS1	gene	ALMS1	Eligibility statement prior genetic testing;Expert Review Green	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Alstrom syndrome						False	3	100;0;0	1.69	False		ENSG00000116127	ENSG00000116127	HGNC:428													
BSCL2	gene	BSCL2	Expert Review;Expert Review Green	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Lipodystrophy, congenital generalized, type 2, OMIM:269700				11479539		False	3	100;0;0	1.69	True		ENSG00000168000	ENSG00000168000	HGNC:15832													
CISD2	gene	CISD2	Expert Review;Expert Review Green	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	604928;Wolfram syndrome 2				17846994;25056293		False	3	100;0;0	1.69	False		ENSG00000145354	ENSG00000145354	HGNC:24212													
EIF2AK3	gene	EIF2AK3	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Multiple Epiphyseal Dysplasia with Early-Onset Diabetes Mellitus;Wolcott-Rallison syndrome 						False	3	100;0;0	1.69	False		ENSG00000172071	ENSG00000172071	HGNC:3255													
FOXP3	gene	FOXP3	Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790; {Diabetes mellitus, type I, susceptibility to}, 222100;IPEX syndrome						False	3	100;0;0	1.69	False		ENSG00000049768	ENSG00000049768	HGNC:6106													
GATA4	gene	GATA4	Expert Review Green;UKGTN	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Neonatal diabetes, Pancreatic agenesis and/or congenital heart defects 				24696446		False	3	100;0;0	1.69	False		ENSG00000136574	ENSG00000136574	HGNC:4173													
GATA6	gene	GATA6	Expert Review Green;UKGTN	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Pancreatic agenesis and congenital heart defects ;PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS				Lango Allen et al 2011 Nat Genet 44, 20-22 De Franco et al 2013 Diabetes 62, 993-997;27098067;26210631;25706805;25708516;25356219;24433315;24310933;23639568;23635550;22962692;22806356;22158542		False	3	100;0;0	1.69	False		ENSG00000141448	ENSG00000141448	HGNC:4174													
GCK	gene	GCK	Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	MODY, type II, 125851; Diabetes mellitus, noninsulin-dependent, late onset, 125853; Diabetes mellitus, gestational, 125851; Hyperinsulinemic hypoglycemia, familial, 3, 602485; Diabetes mellitus, permanent neonatal, 606176;Maturity Onset Diabetes of the Young;Permanent Neonatal Diabetes Mellitus;Transient Neonatal Diabetes, Recessive;Maturity-onset diabetes of the young (MODY);Maturity-Onset Diabetes Of The Young;Permanent neonatal diabetes ;MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2; MODY2 						False	3	100;0;0	1.69	False		ENSG00000106633	ENSG00000106633	HGNC:4195													
GLIS3	gene	GLIS3	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 -3;Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism;Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism;Neonatal Diabetes mellitus with congenital hypothyroidism 						False	3	100;0;0	1.69	False		ENSG00000107249	ENSG00000107249	HGNC:28510													
HAMP	gene	HAMP	Expert Review;Expert Review Green	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Hemochromatosis, type 2B 613313						False	3	100;0;0	1.69	False		ENSG00000105697	ENSG00000105697	HGNC:15598													
HFE	gene	HFE	Expert Review Green;Radboud University Medical Center, Nijmegen	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Hemochromatosis, 235200; {Microvascular complications of diabetes 7}, 612635; {Porphyria variegata, susceptibility to}, 176200; {Porphyria cutanea tarda, susceptibility to}, 176100; {Alzheimer disease, susceptibility to}, 104300						False	3	100;0;0	1.69	False		ENSG00000010704	ENSG00000010704	HGNC:4886													
HFE2	gene	HFE2	Expert Review;Expert Review Green	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Hemochromatosis, type 2A, 602390						False	3	100;0;0	1.69	False		ENSG00000168509	ENSG00000168509	HGNC:4887													
HNF1A	gene	HNF1A	Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Diabetes mellitus, insulin-dependent, 20, OMIM:612520;{Diabetes mellitus, noninsulin-dependent, 2}, OMIM:125853;MODY, type III, OMIM:600496						False	3	100;0;0	1.69	False		ENSG00000135100	ENSG00000135100	HGNC:11621													
HNF1B	gene	HNF1B	Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Renal cysts and diabetes syndrome, 137920; Diabetes mellitus, noninsulin-dependent, 125853; {Renal cell carcinoma}, 144700;Renal Cysts and Diabetes Syndrome;Maturity-Onset Diabetes Of The Young;Transient neonatal diabetes ;RENAL CYSTS AND DIABETES SYNDROME; RCAD ;renal malformation						False	3	100;0;0	1.69	False		ENSG00000108753	ENSG00000275410	HGNC:11630													
HNF4A	gene	HNF4A	Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	MODY, type I, 125850;{Diabetes mellitus, noninsulin-dependent}, 125853;Maturity Onset Diabetes of the Young;Maturity-onset diabetes of the young (MODY);Maturity-Onset Diabetes Of The Young;MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1;MODY1;#616026						False	3	100;0;0	1.69	False		ENSG00000101076	ENSG00000101076	HGNC:5024													
IER3IP1	gene	IER3IP1	Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Microcephaly, epilepsy, and diabetes syndrome, 614231;Microcephaly, epilepsy and diabetes syndrome 				21835305, 22991235, 24138066		False	3	0;0;100	1.69	True		ENSG00000134049	ENSG00000134049	HGNC:18550													
INS	gene	INS	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Hyperproinsulinemia, familial, with or without diabetes; Maturity-onset diabetes of the young, type 10, 613370; Diabetes mellitus, permanent neonatal, 606176; Diabetes mellitus, type 1, 125852; Diabetes mellitus, insulin-dependent, 2, 125852;Maturity Onset Diabetes of the Young;Transient Neonatal Diabetes, Dominant/Recessive;Permanent Neonatal diabetes mellitus ;MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10						False	3	100;0;0	1.69	False		ENSG00000254647	ENSG00000254647	HGNC:6081													
INSR	gene	INSR	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Diabetes mellitus, insulin-resistant, with acanthosis nigricans;OMIM 610549;Leprechaunism, 246200;Rabson-Mendenhall syndrome, 262190;Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549;Hyperinsulinemic hypoglycemia, familial, 5, 609968;Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans;Pineal Hyperplasia,Insulin- Resistant Diabetes Mellitus, and Somatic Abnormalities;Diabetes Mellitus, Insulin-Resistant, With Acanthosis Nigricans;Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities;DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS				8288049		False	3	100;0;0	1.69	False		ENSG00000171105	ENSG00000171105	HGNC:6091													
KCNJ11	gene	KCNJ11	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hyperinsulinemic hypoglycemia, familial, 2, 601820; Diabetes, permanent neonatal, 606176; Diabetes mellitus, permanent neonatal, with neurologic features, 606176;{Diabetes mellitus, type 2, susceptibility to}, 125853; Diabetes mellitus, transient neonatal, 3, 610582; {Diabetes mellitus, type 2, susceptibility to}, 125853; Diabetes mellitus, trans;Maturity Onset Diabetes of the Young;Transient Neonatal Diabetes, Dominant;Diabetes Mellitus, Permanent Neonatal; Diabetes Mellitus, Transient Neonatal, 3; Transient Neonatal diabetes mellitus (Dominant); Maturity Onset Diabetes of the Young (Dominant);Diabetes Mellitus, Permanent Neonatal diabetes mellitus (Dominant and recessive); Transient Neonatal, 3						False	3	100;0;0	1.69	False	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;Illumina TruGenome Clinical Sequencing Services;UKGTN	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules;LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; FPLD2 				26775134;24002959		False	3	100;0;0	1.69	False		ENSG00000160789	ENSG00000160789	HGNC:6636													
LRBA	gene	LRBA	Expert Review;Expert Review Green	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency, common variable, 8, with autoimmunity				25468195; 26206937; 26745254; 27057999; 25479458		False	3	100;0;0	1.69	True		ENSG00000198589	ENSG00000198589	HGNC:1742													
MNX1	gene	MNX1	Expert Review Green;UKGTN	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal					Flanagan et al 2014 Cell Metab 19:146-154;23562494;24411943;26534984		False	3	100;0;0	1.69	False		ENSG00000130675	ENSG00000130675	HGNC:4979													
MT-TL1	gene	MT-TL1	Eligibility statement prior genetic testing;Expert Review Green;UKGTN	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	MITOCHONDRIAL	MELAS syndrome;Diabetes-Deafness Syndrome, Maternally Transmitted;DIABETES AND DEAFNESS, MATERNALLY INHERITED;MIDD						False	3	100;0;0	1.69	False		ENSG00000209082	ENSG00000209082	HGNC:7490													
NEUROD1	gene	NEUROD1	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	{Diabetes mellitus, noninsulin-dependent}, 125853; Maturity-onset diabetes of the young 6, 606394;Maturity Onset Diabetes of the Young;Maturity-Onset Diabetes Of The Young;Permanent neonatal diabetes and cerebellar agenesis ;MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6; MODY6 				26773576;10545951;20573748;26669242		False	3	100;0;0	1.69	False		ENSG00000162992	ENSG00000162992	HGNC:7762													
NEUROG3	gene	NEUROG3	Expert Review Green;UKGTN	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Permanent neonatal diabetes and enteric anendocrinosis 				Rubio-Cabezas et al 2011 Diabetes 60:1349-1353;26288179;25650326		False	3	100;0;0	1.69	False		ENSG00000122859	ENSG00000122859	HGNC:13806													
NKX2-2	gene	NKX2-2	Expert Review Green;UKGTN	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal					24411943		False	3	100;0;0	1.69	False		ENSG00000125820	ENSG00000125820	HGNC:7835													
PDX1	gene	PDX1	Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen;UKGTN	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	MODY type IV;Maturity-onset diabetes of the young (MODY);Maturity-Onset Diabetes Of The Young;Permanent neonatal diabetes ;MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4; MODY4 						False	3	0;0;0	1.69	False		ENSG00000139515	ENSG00000139515	HGNC:6107													
PIK3R1	gene	PIK3R1	Expert Review;Expert Review Green	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome				23810378		False	3	100;0;0	1.69	True		ENSG00000145675	ENSG00000145675	HGNC:8979													
POLD1	gene	POLD1	Expert Review;Expert Review Green	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, OMIM:615381				23770608		False	3	100;0;0	1.69	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;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Obesity, severe, 601665; [Obesity, resistance to]; Insulin resistance, severe, digenic, 604367; Lipodystrophy, familial partial, type 3, 604367; Carotid intimal medial thickness 1, 609338; {Diabetes, type 2}, 125853;Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension;LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; FPLD3 						False	3	100;0;0	1.69	False		ENSG00000132170	ENSG00000132170	HGNC:9236													
PTF1A	gene	PTF1A	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Diabetes mellitus, permanent neonatal, with cerebellar agenesis, 609069;Permanent neonatal diabetes mellitus (PNDM);Permanent neonatal diabetes with cerebellar agenesis 						False	3	100;0;0	1.69	False		ENSG00000168267	ENSG00000168267	HGNC:23734													
RFX6	gene	RFX6	Expert Review Green;UKGTN	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities;Mitchell-Riley syndrome				Spiegal et al 2011 AM J Med Genet 155:2821-2825;Smith et al 2010 Nature 463:775-780;27185633;27167055;26770845;26761945;26559129;26264437;25048417		False	3	100;0;0	1.69	False		ENSG00000185002	ENSG00000185002	HGNC:21478													
SLC19A2	gene	SLC19A2	Expert Review Green;UKGTN	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Thiamine-responsive megaloblastic anemia syndrome, OMIM:249270;diabetes mellitus, MONDO:0005015				Shaw-Smith et al 2012 Pediatr Diabetes 13:314-321;26839896;26549656		False	3	100;0;0	1.69	False		ENSG00000117479	ENSG00000117479	HGNC:10938													
SLC29A3	gene	SLC29A3	Expert Review;Expert Review Green	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782;Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome				19336477		False	3	100;0;0	1.69	True		ENSG00000198246	ENSG00000198246	HGNC:23096													
SLC2A2	gene	SLC2A2	Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	{Diabetes mellitus, noninsulin-dependent}; Fanconi-Bickel syndrome, 227810;Fanconi-Bickel syndrome 				23456528;22660720;22831748		False	3	100;0;0	1.69	False		ENSG00000163581	ENSG00000163581	HGNC:11006													
SLC40A1	gene	SLC40A1	Expert Review;Expert Review Green	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hemochromatosis, type 4 606069						False	3	100;0;0	1.69	False		ENSG00000138449	ENSG00000138449	HGNC:10909													
STAT3	gene	STAT3	Expert Review Green;UKGTN	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neonatal diabetes and additional multi-organ autoimmunity 				Flanagan et al 2014 Nature Genetics (In press);27167055		False	3	100;0;0	1.69	False	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	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Hemochromatosis, type 3 604250						False	3	100;0;0	1.69	False		ENSG00000106327	ENSG00000106327	HGNC:11762													
TRMT10A	gene	TRMT10A	Expert Review;Expert Review Green	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	young onset diabetes, short stature and microcephaly with intellectual disability; failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies				24204302; 26297882		False	3	100;0;0	1.69	True		ENSG00000145331	ENSG00000145331	HGNC:28403													
WFS1	gene	WFS1	Eligibility statement prior genetic testing;Expert Review Green;Radboud University Medical Center, Nijmegen	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Wolfram syndrome, OMIM:222300;Deafness, autosomal dominant 6/14/38, OMIM:600965;Wolfram-like syndrome, autosomal dominant, OMIM:614296;{Diabetes mellitus, noninsulin-dependent, association with}, OMIM:125853;?Cataract 41, OMIM:116400;diabetes insipidus or optic atrophy				27217304;27185633;33693650		False	3	100;0;0	1.69	False		ENSG00000109501	ENSG00000109501	HGNC:12762													
ZFP57	gene	ZFP57	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Diabetes mellitus, transient neonatal, 1, 601410;Transient Neonatal Diabetes, Recessive;Transient Neonatal Diabetes 						False	3	100;0;0	1.69	False		ENSG00000204644	ENSG00000204644	HGNC:18791													
ISCA-37432-Loss	region		Expert Review Green;ClinGen	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	RCAD syndrome;utero-vaginal atresia;Schizophrenia;614527;delayed development, intellectual disability;Renal cysts and diabetes syndrome;Autism Spectrum Disorder;Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females;Chromosome 17q12 deletion syndrome;global developmental delay						False	3	0;0;0	1.69	False					17			36458167	37854616				3		60	cnv_loss	17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss
