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
BLK	gene	BLK	Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Maturity-onset diabetes of the young, type 11, 613375;Maturity Onset Diabetes of the Young						False	1	0;0;100	1.69	False		ENSG00000136573	ENSG00000136573	HGNC:1057													
CEL	gene	CEL	Expert Review Red;Radboud University Medical Center, Nijmegen	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Maturity-onset diabetes of the young, type VIII, 609812				16369531		False	1	0;0;100	1.69	False		ENSG00000170835	ENSG00000170835	HGNC:1848													
DCAF17	gene	DCAF17	Expert Review;Expert Review Red	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal					19026396; 20507343		False	1	0;0;100	1.69	True		ENSG00000115827	ENSG00000115827	HGNC:25784													
FOXC2	gene	FOXC2	Expert Review Red;Radboud University Medical Center, Nijmegen	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders		Lymphedema-distichiasis syndrome, 153400; Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400						False	1	0;0;100	1.69	False		ENSG00000176692	ENSG00000176692	HGNC:3801													
IL2RA	gene	IL2RA	Expert Review;Expert Review Red	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal					17196245		False	1	0;0;100	1.69	True		ENSG00000134460	ENSG00000134460	HGNC:6008													
KLF11	gene	KLF11	Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Maturity-onset diabetes of the young, type VII, 610508;Maturity Onset Diabetes of the Young						False	1	0;0;100	1.69	False		ENSG00000172059	ENSG00000172059	HGNC:11811													
PAX4	gene	PAX4	Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Maturity-onset diabetes of the young, type IX, 612225; Diabetes mellitus, type 2, 125853; Diabetes mellitus, ketosis-prone, 612227;Maturity Onset Diabetes of the Young						False	1	0;0;100	1.69	False		ENSG00000106331	ENSG00000106331	HGNC:8618													
PCBD1	gene	PCBD1	Expert Review;Expert Review Red	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal					24204001;24848070		False	1	0;0;100	1.69	True		ENSG00000166228	ENSG00000166228	HGNC:8646													
STAT1	gene	STAT1	Expert Review;Expert Review Red	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted					23534974		False	1	0;0;100	1.69	True	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000115415	ENSG00000115415	HGNC:11362													
ZBTB20	gene	ZBTB20	Expert Review;Expert Review Red	Diabetes with additional phenotypes suggestive of a monogenic aetiology	Disorders of unusual phenotypes	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Primrose syndrome						False	1	0;0;100	1.69	False		ENSG00000181722	ENSG00000181722	HGNC:13503