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
AKT2	gene	AKT2	Expert list;Expert Review Amber	Severe insulin resistance and lipodystrophy syndromes		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Diabetes mellitus, type II, OMIM:125853;Type 2 diabetes mellitus, MONDO:0005148;Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900;Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416;Partial lipodystrophy				12843127;15166380;17327441;27710244		False	2	50;50;0	5.1	False		ENSG00000105221	ENSG00000105221	HGNC:392													
CIDEC	gene	CIDEC	Expert list;Expert Review Amber	Severe insulin resistance and lipodystrophy syndromes		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	?Lipodystrophy, familial partial, type 5, OMIM:615238				20049731;25565658;27710244		False	2	67;33;0	5.1	False		ENSG00000187288	ENSG00000187288	HGNC:24229													
POC5	gene	POC5	Expert Review Amber;Literature	Severe insulin resistance and lipodystrophy syndromes		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Retinal dystrophy;diabetes mellitus;lipodystrophy;renal failure;abnormal muscle physiology				29272404;40590205		False	2	100;0;0	5.1	False		ENSG00000152359	ENSG00000152359	HGNC:26658													
PSMA3	gene	PSMA3	Expert list;Expert Review Amber;NHS GMS	Severe insulin resistance and lipodystrophy syndromes		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Proteasome associated autoinflammatory syndrome-1, CANDLES (Chronic, atypical, neutrophillic dermatosis with lipodystrophy and elevated temperature syndrome), Joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome)				26524591		False	2	0;100;0	5.1	False		ENSG00000100567	ENSG00000100567	HGNC:9532