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
CEL	gene	CEL	Expert Review Amber;NHS GMS	Monogenic Diabetes		Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Diabetes and pancreatic exocrine dysfunction;Maturity-onset diabetes of the young, type VIII, 609812			Diabetes mellitus;HP:0000819	19760265;21784842;27650499;18544793;17989309;24062244;16369531;25160620		False	2	0;0;100	0.136	True		ENSG00000170835	ENSG00000170835	HGNC:1848													
DYRK1B	gene	DYRK1B	Expert Review Amber;NHS GMS	Monogenic Diabetes		Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes);Abdominal obesity-metabolic syndrome 3, 615812			Diabetes mellitus;HP:0000819	34193236;34786696;24827035;28743892		False	2	0;100;0	0.136	True		ENSG00000105204	ENSG00000105204	HGNC:3092													
EPHX1	gene	EPHX1	Expert Review Amber;Literature	Monogenic Diabetes		Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hereditary lipodystrophy, MONDO:0020087, EPHX1-related			Diabetes mellitus;HP:0000819	34342583		False	2	0;100;0	0.136	True		ENSG00000143819	ENSG00000143819	HGNC:3401													
FICD	gene	FICD	Expert Review Amber;Literature	Monogenic Diabetes		Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Monogenic diabetes, MONDO:0015967, FICD-related			Diabetes mellitus;HP:0000819	36704923;36136088		False	2	0;100;0	0.136	True		ENSG00000198855	ENSG00000198855	HGNC:18416													
MANF	gene	MANF	Expert Review;Expert Review Amber	Monogenic Diabetes		Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Diabetes, deafness, developmental delay, and short stature syndrome, MIM# 620651			Diabetes mellitus;HP:0000819	26077850;33500254;34815294		False	2	0;100;0	0.136	True		ENSG00000145050	ENSG00000145050	HGNC:15461													
PDIA6	gene	PDIA6	Expert Review Amber;Literature	Monogenic Diabetes		Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Asphyxiating thoracic dystrophy (ATD) syndrome and infantile onset diabetes			Diabetes mellitus;HP:0000819	PMID: 33495992		False	2	0;100;0	0.136	True		ENSG00000143870	ENSG00000143870	HGNC:30168													
PLIN1	gene	PLIN1	Expert Review Amber;NHS GMS	Monogenic Diabetes		Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Lipodystrophy, familial partial, type 4, 613877;Severe insulin resistance, partial lipodystrophy and diabetes			Diabetes mellitus;HP:0000819	11371650;21345103;25695774;30020498		False	2	0;100;0	0.136	True		ENSG00000166819	ENSG00000166819	HGNC:9076													
PPP1R15B	gene	PPP1R15B	Expert Review Amber;NHS GMS	Monogenic Diabetes		Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability,616817			Diabetes mellitus;HP:0000819	26159176;26307080;27640355		False	2	0;100;0	0.136	True		ENSG00000158615	ENSG00000158615	HGNC:14951													
STAT1	gene	STAT1	Expert Review;Expert Review Amber	Monogenic Diabetes		Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome MONDO:0013599			Diabetes mellitus;HP:0000819	23534974;33027576		False	2	0;100;0	0.136	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													
