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
BANF1	gene	BANF1	Expert Review Amber;Victorian Clinical Genetics Services	Lipodystrophy_Lipoatrophy		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Nestor-Guillermo progeria syndrome, MIM# 614008			Lipodystrophy;HP:0009125	32783369;21549337		False	2	0;100;0	1.17	True		ENSG00000175334	ENSG00000175334	HGNC:17397													
BUD13	gene	BUD13	Expert Review Amber;Literature	Lipodystrophy_Lipoatrophy		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Lipodystrophy, MONDO:0006573			Lipodystrophy;HP:0009125	35670808		False	2	0;100;0	1.17	True		ENSG00000137656	ENSG00000137656	HGNC:28199													
LMNB2	gene	LMNB2	Expert Review Amber;Victorian Clinical Genetics Services	Lipodystrophy_Lipoatrophy		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	{Lipodystrophy, partial, acquired, susceptibility to} 608709			Lipodystrophy;HP:0009125	16826530;22768673		False	2	0;100;0	1.17	True		ENSG00000176619	ENSG00000176619	HGNC:6638													
PCYT1A	gene	PCYT1A	Expert Review Amber;Victorian Clinical Genetics Services	Lipodystrophy_Lipoatrophy		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Lipodystrophy, congenital generalized, type 5, MIM# 620680			Lipodystrophy;HP:0009125	24889630		False	2	0;100;0	1.17	True		ENSG00000161217	ENSG00000161217	HGNC:8754													
PLIN1	gene	PLIN1	Expert Review Amber;Victorian Clinical Genetics Services	Lipodystrophy_Lipoatrophy		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Lipodystrophy, familial partial, type 4, MIM# 613877			Lipodystrophy;HP:0009125	21345103;31504636;30020498;25114292		False	2	0;100;0	1.17	True		ENSG00000166819	ENSG00000166819	HGNC:9076													
PRIM1	gene	PRIM1	Expert Review Amber;Literature	Lipodystrophy_Lipoatrophy		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005			Lipodystrophy;HP:0009125	33060134		False	2	0;100;0	1.17	True		ENSG00000198056	ENSG00000198056	HGNC:9369													
PSMB4	gene	PSMB4	Expert list;Expert Review Amber	Lipodystrophy_Lipoatrophy		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	"Proteasome-associated autoinflammatory syndrome 3 and digenic forms, MIM#	617591"			Lipodystrophy;HP:0009125	26524591		False	2	0;100;0	1.17	True		ENSG00000159377	ENSG00000159377	HGNC:9541													
SPRTN	gene	SPRTN	Expert Review Amber;Victorian Clinical Genetics Services	Lipodystrophy_Lipoatrophy		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Ruijs-Aalfs syndrome, MIM# 616200;MONDO:0014527			Lipodystrophy;HP:0009125	25261934		False	2	0;100;0	1.17	True		ENSG00000010072	ENSG00000010072	HGNC:25356