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		Endocrinology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Transient Neonatal Diabetes Mellitus, MONDO:0020525 (dominant);Diabetes mellitus, noninsulin-dependent, OMIM:125853;Diabetes mellitus, transient neonatal 2, OMIM:610374;Hyperinsulinemic hypoglycemia, familial, 1, OMIM:256450;Hypoglycemia of infancy, leucine-sensitive, OMIM:240800;Permanent Neonatal Diabetes Mellitus, MONDO:0100164(recessive)						False	3	100;0;0	3.18	False	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													
AKT2	gene	AKT2	Expert Review Green;NHS GMS	Monogenic diabetes		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Diabetes mellitus, type II, OMIM:125853;Type 2 diabetes mellitus, MONDO:0005148				17576055;17327441;15166380		False	3	100;0;0	3.18	False		ENSG00000105221	ENSG00000105221	HGNC:392													
APPL1	gene	APPL1	Expert Review Green;NHS GMS	Monogenic diabetes		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	{Maturity-onset diabetes of the young, type 14}, OMIM:616511						False	3	33;33;33	3.18	False		ENSG00000157500	ENSG00000157500	HGNC:24035													
CEL	gene	CEL	Expert Review Green;NHS GMS	Monogenic diabetes		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Maturity-onset diabetes of the young, type VIII, OMIM:609812;Diabetes and pancreatic exocrine dysfunction				16369531;24062244;21784842;19760265;18544793;17989309;27650499;25160620		False	3	67;0;33	3.18	False		ENSG00000170835	ENSG00000170835	HGNC:1848													
CISD2	gene	CISD2	Expert Review Green;NHS GMS	Monogenic diabetes		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Wolfram syndrome 2, OMIM:604928				17846994;25056293		False	3	100;0;0	3.18	False		ENSG00000145354	ENSG00000145354	HGNC:24212													
DCAF17	gene	DCAF17	Expert Review Green;NHS GMS	Monogenic diabetes		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Woodhouse-Sakati syndrome, OMIM:241080				20507343;19026396;24464444		False	3	67;0;33	3.18	False		ENSG00000115827	ENSG00000115827	HGNC:25784													
DNAJC3	gene	DNAJC3	Expert Review Green;NHS GMS	Monogenic diabetes		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, OMIM:616192;juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome, MONDO:0014523						False	3	100;0;0	3.18	False		ENSG00000102580	ENSG00000102580	HGNC:9439													
DUT	gene	DUT	Expert Review Green;Literature;NHS GMS	Monogenic diabetes		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Bone marrow failure and diabetes mellitus syndrome, OMIM:620044				28073829;35611808;35931051		False	3	50;50;0	3.18	False		ENSG00000128951	ENSG00000128951	HGNC:3078													
DYRK1B	gene	DYRK1B	Expert Review Green;NHS GMS	Monogenic diabetes		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Abdominal obesity-metabolic syndrome 3, OMIM:615812						False	3	100;0;0	3.18	False		ENSG00000105204	ENSG00000105204	HGNC:3092													
GATA4	gene	GATA4	Expert Review Green;NHS GMS	Monogenic diabetes		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	NEONATAL DIABETES MELLITUS, MONDO:0016391;Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, MONDO:0010802;Metabolic syndrome, MONDO:0004955 (coronary artery disease, hypertension, central obesity and diabetes)				24696446		False	3	100;0;0	3.18	False		ENSG00000136574	ENSG00000136574	HGNC:4173													
GATA6	gene	GATA6	Expert Review Green;NHS GMS	Monogenic diabetes		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OMIM:600001;Metabolic syndrome, MONDO:0004955 (coronary artery disease, hypertension, central obesity and diabetes)				22806356;25706805;23635550;24433315;24310933;23639568;22158542;26210631;22962692;27098067;25708516;23223019;25356219		False	3	100;0;0	3.18	False		ENSG00000141448	ENSG00000141448	HGNC:4174													
GCK	gene	GCK	Expert Review Green;NHS GMS	Monogenic diabetes		Endocrinology	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Hyperinsulinemic hypoglycemia, familial, 3, OMIM:602485;Diabetes mellitus, noninsulin-dependent, late onset, OMIM:125853;MODY, type II, OMIM:125851;Diabetes mellitus, permanent neonatal 1, OMIM:606176						False	3	100;0;0	3.18	False		ENSG00000106633	ENSG00000106633	HGNC:4195													
HNF1A	gene	HNF1A	Expert Review Green;NHS GMS	Monogenic diabetes		Endocrinology	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	3.18	False		ENSG00000135100	ENSG00000135100	HGNC:11621													
HNF1B	gene	HNF1B	Expert Review Green;NHS GMS	Monogenic diabetes		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	transient neonatal diabetes mellitus (disease), MONDO:0020525;Type 2 diabetes mellitus, OMIM:125853;maturity-onset diabetes of the young (disease), MONDO:0018911						False	3	100;0;0	3.18	False		ENSG00000108753	ENSG00000275410	HGNC:11630													
HNF4A	gene	HNF4A	Expert Review Green;NHS GMS	Monogenic diabetes		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	{Diabetes mellitus, noninsulin-dependent}, OMIM:125853;MODY, type I , OMIM:125850;Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM:616026				28242437		False	3	100;0;0	3.18	False		ENSG00000101076	ENSG00000101076	HGNC:5024													
INS	gene	INS	Expert Review Green;NHS GMS	Monogenic diabetes		Endocrinology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Maturity-onset diabetes of the young, type 10, OMIM:613370;Diabetes mellitus, permanent neonatal 4, OMIM:618858;Diabetes mellitus, insulin-dependent, 2, OMIM:125852;Hyperproinsulinemia, OMIM:616214						False	3	100;0;0	3.18	False		ENSG00000254647	ENSG00000254647	HGNC:6081													
INSR	gene	INSR	Expert Review Green;NHS GMS	Monogenic diabetes		Endocrinology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans, OMIM:610549;Hyperinsulinemic hypoglycemia, familial, 5, OMIM:609968;Leprechaunism, OMIM:246200;Rabson-Mendenhall syndrome, OMIM:262190				8288049		False	3	100;0;0	3.18	False		ENSG00000171105	ENSG00000171105	HGNC:6091													
KCNJ11	gene	KCNJ11	Expert Review Green;NHS GMS	Monogenic diabetes		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Diabetes mellitus, transient neonatal, 3, OMIM:610582;Diabetes, permanent neonatal 2, with or without neurologic features, OMIM:618856;Hyperinsulinemic hypoglycemia, familial, 2, OMIM:601820;Maturity-onset diabetes of the young, type 13, OMIM:616329						False	3	100;0;0	3.18	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;NHS GMS	Monogenic diabetes		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Lipodystrophy, familial partial, type 2, OMIM:151660;Severe insulin resistance, partial lipodystrophy and diabetes				26775134;24002959		False	3	100;0;0	3.18	False		ENSG00000160789	ENSG00000160789	HGNC:6636													
MT-TL1	gene	MT-TL1	Expert Review Green;NHS GMS	Monogenic diabetes		Endocrinology	MITOCHONDRIAL	maternally-inherited diabetes and deafness, MONDO:0010785						False	3	100;0;0	3.18	False		ENSG00000209082	ENSG00000209082	HGNC:7490													
NEUROD1	gene	NEUROD1	Expert Review Green;NHS GMS	Monogenic diabetes		Endocrinology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Maturity-onset diabetes of the young 6, OMIM:606394;{Type 2 diabetes mellitus, susceptibility to}, OMIM:125853				26773576;10545951;26669242;20573748		False	3	100;0;0	3.18	False		ENSG00000162992	ENSG00000162992	HGNC:7762													
PAX6	gene	PAX6	Expert Review Green;NHS GMS	Monogenic diabetes		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	diabetes mellitus (disease), MONDO:0005015						False	3	100;0;0	3.18	False		ENSG00000007372	ENSG00000007372	HGNC:8620													
PCBD1	gene	PCBD1	Expert Review Green;NHS GMS	Monogenic diabetes		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Hyperphenylalaninemia, BH4-deficient, D, OMIM:264070				24204001;24848070		False	3	67;0;33	3.18	False		ENSG00000166228	ENSG00000166228	HGNC:8646													
PDX1	gene	PDX1	Expert Review Green;NHS GMS	Monogenic diabetes		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Pancreatic agenesis 1, OMIM:260370;MODY, type IV, OMIM:606392						False	3	100;0;0	3.18	False		ENSG00000139515	ENSG00000139515	HGNC:6107													
PIK3R1	gene	PIK3R1	Expert Review Green;NHS GMS	Monogenic diabetes		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	SHORT syndrome, OMIM:269880				23810378		False	3	100;0;0	3.18	False	Other - please provide details in the comments	ENSG00000145675	ENSG00000145675	HGNC:8979													
PLIN1	gene	PLIN1	Expert Review Green;NHS GMS	Monogenic diabetes		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Lipodystrophy, familial partial, type 4, OMIM:613877				21345103;30020498;11371650;25695774;25114292;29747582		False	3	100;0;0	3.18	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000166819	ENSG00000166819	HGNC:9076													
POLD1	gene	POLD1	Expert Review Green;NHS GMS	Monogenic diabetes		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, OMIM:615381				23770608		False	3	100;0;0	3.18	False	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		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Lipodystrophy, familial partial, type 3, OMIM:604367;Insulin resistance, severe, digenic, OMIM:604367;Obesity, severe, OMIM:601665;{Diabetes, type 2}, OMIM:125853						False	3	100;0;0	3.18	False		ENSG00000132170	ENSG00000132170	HGNC:9236													
PPP1R15B	gene	PPP1R15B	Expert Review Green;NHS GMS	Monogenic diabetes		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Microcephaly, short stature, and impaired glucose metabolism 2, OMIM:616817						False	3	100;0;0	3.18	False		ENSG00000158615	ENSG00000158615	HGNC:14951													
RFX6	gene	RFX6	Expert Review Green;NHS GMS	Monogenic diabetes		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Mitchell-Riley syndrome, OMIM:615710				25048417;26770845;26761945;27185633;26559129;26264437;27167055		False	3	100;0;0	3.18	False		ENSG00000185002	ENSG00000185002	HGNC:21478													
SLC29A3	gene	SLC29A3	Expert Review Green;NHS GMS	Monogenic diabetes		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782				19336477		False	3	100;0;0	3.18	False		ENSG00000198246	ENSG00000198246	HGNC:23096													
SMPD4	gene	SMPD4	Expert Review Green;Literature;NHS GMS	Monogenic diabetes		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies, OMIM:618622;type 1 diabetes mellitus, MONDO:0005147				36732302		False	3	50;50;0	3.18	False		ENSG00000136699	ENSG00000136699	HGNC:32949													
TRMT10A	gene	TRMT10A	Expert Review Green;NHS GMS	Monogenic diabetes		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Microcephaly, short stature, and impaired glucose metabolism 1, OMIM:616033				26297882;24204302		False	3	100;0;0	3.18	False		ENSG00000145331	ENSG00000145331	HGNC:28403													
WFS1	gene	WFS1	Expert Review Green;NHS GMS	Monogenic diabetes		Endocrinology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Wolfram syndrome 1, OMIM:222300;Wolfram syndrome 1, MONDO:0009101;Wolfram-like syndrome, MONDO:0013673;autosomal dominant nonsyndromic hearing loss, MONDO:0019587				27217304;27185633;33693650;23903355;28271591;29207974;39221226;40779032		False	3	100;0;0	3.18	False		ENSG00000109501	ENSG00000109501	HGNC:12762													
ZBTB20	gene	ZBTB20	Expert Review Green;NHS GMS	Monogenic diabetes		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	diabetes mellitus (disease), MONDO:0005015				25017102;20644156		False	3	67;0;33	3.18	False		ENSG00000181722	ENSG00000181722	HGNC:13503													
ZFP57	gene	ZFP57	Expert Review Green;NHS GMS	Monogenic diabetes		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	transient neonatal diabetes mellitus (disease), MONDO:0020525;Diabetes mellitus, transient neonatal, 1, OMIM:601410						False	3	100;0;0	3.18	False		ENSG00000204644	ENSG00000204644	HGNC:18791													
ZMPSTE24	gene	ZMPSTE24	Expert Review Green	Monogenic diabetes		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Mandibuloacral dysplasia with type B lipodystrophy, OMIM:608612				18435794;16297189;20034068;12913070;15317753		False	3	0;0;0	3.18	False		ENSG00000084073	ENSG00000084073	HGNC:12877													
FICD	gene	FICD	Expert Review Amber;Literature	Monogenic diabetes		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 92, autosomal recessive, OMIM:620911;diabetes mellitus, MONDO:0005015;Neonatal insulin-dependent diabetes mellitus, HP:0000857				36704923;36136088;40062579		False	2	100;0;0	3.18	False		ENSG00000198855	ENSG00000198855	HGNC:18416													
KBTBD2	gene	KBTBD2	Expert Review Amber;Literature	Monogenic diabetes		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder, MONDO:0700092				39313616		False	2	0;100;0	3.18	False		ENSG00000170852	ENSG00000170852	HGNC:21751													
POC5	gene	POC5	Expert Review Amber;Literature	Monogenic diabetes		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Retinal dystrophy;diabetes mellitus;lipodystrophy;renal failure;abnormal muscle physiology				29272404;40590205		False	2	100;0;0	3.18	False		ENSG00000152359	ENSG00000152359	HGNC:26658													
SLC19A2	gene	SLC19A2	Expert Review Amber	Monogenic diabetes		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Thiamine-responsive megaloblastic anemia syndrome, OMIM:249270;diabetes mellitus, MONDO:0005015				26549656;26839896;33571483;39025920;20301459;10391221;38932873		False	2	75;0;25	3.18	False		ENSG00000117479	ENSG00000117479	HGNC:10938													
ZNF808	gene	ZNF808	Expert Review;Expert Review Amber	Monogenic diabetes		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Pancreatic agenesis 3, OMIM:620991;diabetes mellitus, MONDO:0005015				37973953;41500078		False	2	100;0;0	3.18	False		ENSG00000198482	ENSG00000198482	HGNC:33230													
AGPS	gene	AGPS	Expert Review Red	Monogenic diabetes		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Lipodystrophy, congenital generalized, type 1, 608594						False	1	0;0;0	3.18	False		ENSG00000018510	ENSG00000018510	HGNC:327													
CAV1	gene	CAV1	Expert Review Red	Monogenic diabetes		Endocrinology	Unknown	Lipodystrophy, congenital generalized, type 3, 612526;Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome				18211975		False	1	0;0;0	3.18	False		ENSG00000105974	ENSG00000105974	HGNC:1527													
CIDEC	gene	CIDEC	Expert Review Red	Monogenic diabetes		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Lipodystrophy, familial partial, type 5				20049731		False	1	0;0;0	3.18	False		ENSG00000187288	ENSG00000187288	HGNC:24229													
ISCA-37432-Loss	region		Expert Review Amber	Monogenic diabetes		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	614527;utero-vaginal atresia;RCAD syndrome;Schizophrenia;Chromosome 17q12 deletion syndrome;delayed development, intellectual disability;global developmental delay;Autism Spectrum Disorder;Renal cysts and diabetes syndrome;Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females						False	2	100;0;0	3.18	False					17			36458167	37854616				3		60	cnv_loss	17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss