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
AGPAT2	gene	AGPAT2	Expert Review;Expert Review Red;NHS GMS	DEMO Diabetes neonatal onset	Disorders of unusual phenotypes	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	neonatal diabetes mellitus				Poovazhagi et al., Int J Diabetes Dev Ctries (January March 2013) 33(1):66 68, DOI 10.1007/s13410-012-0099-6		False	1	25;0;75	1.4	False		ENSG00000169692	ENSG00000169692	HGNC:325													
CISD2	gene	CISD2	Expert Review Red;NHS GMS;Other	DEMO Diabetes neonatal onset	Disorders of unusual phenotypes	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal							False	1	0;0;100	1.4	False		ENSG00000145354	ENSG00000145354	HGNC:24212													
COQ2	gene	COQ2	NHS GMS	DEMO Diabetes neonatal onset	Disorders of unusual phenotypes	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	neonatal hyperglycaemia, Primary Coenzyme Q10 Deficiency						False	1	50;0;50	1.4	False		ENSG00000173085	ENSG00000173085	HGNC:25223													
COQ9	gene	COQ9	NHS GMS	DEMO Diabetes neonatal onset	Disorders of unusual phenotypes	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Primary Coenzyme Q10 Deficiency;neonatal hyperglycaemia						False	1	50;0;50	1.4	False		ENSG00000088682	ENSG00000088682	HGNC:25302													
IL2RA	gene	IL2RA	Expert Review;Expert Review Red;NHS GMS	DEMO Diabetes neonatal onset	Disorders of unusual phenotypes	Endocrine disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Neoantal diabetes, congenital hypothyrodism (multiple autoimmune) Recessive;IPEX-like syndrome;insulin-dependent diabetes mellitus at 8-weeks;{Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942;neonatal diabetes				17196245;1234567;67892689		False	1	67;0;33	1.4	True	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000134460	ENSG00000134460	HGNC:6008													
LPL	gene	LPL	NHS GMS	DEMO Diabetes neonatal onset	Disorders of unusual phenotypes	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	lipoprotein lipase deficiency;transient neonatal diabetes				12408192		False	1	50;0;50	1.4	False		ENSG00000175445	ENSG00000175445	HGNC:6677													
