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;Royal Melbourne Hospital	Maturity-onset Diabetes of the Young		Endocrine disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Diabetes mellitus, permanent neonatal, 6;Hyperinsulinemic hypoglycemia, familial, 1, 256450;Transient Neonatal Diabetes, Dominant;Hypoglycemia of infancy, leucine-sensitive, 240800;Permanent Neonatal Diabetes Mellitus (recessive);Diabetes mellitus, transient neonatal 2,  610374;Diabetes mellitus, noninsulin-dependent, 125853;Permanent Neonatal Diabetes Mellitus			Diabetes mellitus;HP:0000819	21054355;32027066;32376986		False	3	100;0;0	1.21	True		ENSG00000006071	ENSG00000006071	HGNC:59													
CEL	gene	CEL	Expert Review Green;Royal Melbourne Hospital	Maturity-onset Diabetes of the Young		Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Maturity-onset diabetes of the young, type VIII, 609812			Diabetes mellitus;HP:0000819	24062244;21784842;19760265;18544793;17989309;16369531;29233499;27650499		False	3	33;33;33	1.21	True		ENSG00000170835	ENSG00000170835	HGNC:1848													
GCK	gene	GCK	Expert Review Green;Royal Melbourne Hospital	Maturity-onset Diabetes of the Young		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	1.21	True		ENSG00000106633	ENSG00000106633	HGNC:4195													
HNF1A	gene	HNF1A	Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services	Maturity-onset Diabetes of the Young		Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Maturity Onset Diabetes of the Young;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;HP:0000819	9097962;9112026		False	3	100;0;0	1.21	True		ENSG00000135100	ENSG00000135100	HGNC:11621													
HNF1B	gene	HNF1B	Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services	Maturity-onset Diabetes of the Young		Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Renal cysts and diabetes syndrome, 137920			Diabetes mellitus;HP:0000819			False	3	100;0;0	1.21	True		ENSG00000108753	ENSG00000275410	HGNC:11630													
HNF4A	gene	HNF4A	Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services	Maturity-onset Diabetes of the Young		Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Maturity Onset Diabetes of the Young;MODY, type I, 125850;OMIM 616026			Diabetes mellitus;HP:0000819	31875549;24285859;22802087;30005691;28458902		False	3	100;0;0	1.21	True		ENSG00000101076	ENSG00000101076	HGNC:5024													
INS	gene	INS	Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services	Maturity-onset Diabetes of the Young		Endocrine disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	monogenic diabetes MONDO:0015967;Diabetes mellitus, insulin-dependent, 2, MIM# 125852;Diabetes mellitus, permanent neonatal 4, MIM# 618858;Maturity-onset diabetes of the young, type 10, MIM# 613370			Diabetes mellitus;HP:0000819	18162506;9884331		False	3	100;0;0	1.21	True		ENSG00000254647	ENSG00000254647	HGNC:6081													
KCNJ11	gene	KCNJ11	Expert Review Green;Royal Melbourne Hospital	Maturity-onset Diabetes of the Young		Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hyperinsulinemic hypoglycemia, familial, 2, 601820Diabetes, permanent neonatal, 606176Diabetes mellitus, permanent neonatal, with neurologic features, 606176{Diabetes mellitus, type 2, susceptibility to}, 125853Diabetes mellitus, transient neonatal, 3, 610582;Maturity Onset Diabetes of the Young			Diabetes mellitus;HP:0000819			False	3	100;0;0	1.21	False		ENSG00000187486	ENSG00000187486	HGNC:6257													
NEUROD1	gene	NEUROD1	Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services	Maturity-onset Diabetes of the Young		Endocrine disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Maturity Onset Diabetes of the Young;{Diabetes mellitus, noninsulin-dependent}, 125853			Diabetes mellitus;HP:0000819	25477324;25684977;22784109;29521454		False	3	100;0;0	1.21	True		ENSG00000162992	ENSG00000162992	HGNC:7762													
PCBD1	gene	PCBD1	Expert Review Green;Literature;Victorian Clinical Genetics Services	Maturity-onset Diabetes of the Young		Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	MODY			Diabetes mellitus;HP:0000819	24848070;24204001		False	3	100;0;0	1.21	True		ENSG00000166228	ENSG00000166228	HGNC:8646													
PDX1	gene	PDX1	Expert Review Green;Royal Melbourne Hospital	Maturity-onset Diabetes of the Young		Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Pancreatic agenesis 1 - MIM#260370 (AR);MODY, type IV - MIM#606392(AD)			Diabetes mellitus;HP:0000819	9326926;10545531;10720084;12970316;20009086;19496967		False	3	100;0;0	1.21	True		ENSG00000139515	ENSG00000139515	HGNC:6107													
RFX6	gene	RFX6	Expert list;Expert Review Green;Victorian Clinical Genetics Services	Maturity-onset Diabetes of the Young		Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	maturity-onset diabetes of the young MONDO:0018911			Diabetes mellitus;HP:0000819	20148032;25048417;27185633;29026101;31001871;36208030		False	3	100;0;0	1.21	True		ENSG00000185002	ENSG00000185002	HGNC:21478