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 Green;Victorian Clinical Genetics Services Lipodystrophy_Lipoatrophy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Lipodystrophy, congenital generalized, type 1, MIM# 608594 Lipodystrophy;HP:0009125 32876150;11967537 False 3 100;0;0 1.17 True ENSG00000169692 ENSG00000169692 HGNC:325 AKT2 gene AKT2 Expert Review Green;Victorian Clinical Genetics Services Lipodystrophy_Lipoatrophy Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypoinsulinemic hypoglycemia with hemihypertrophy 240900 Lipodystrophy;HP:0009125 27408773;21979934 False 3 100;0;0 1.17 True ENSG00000105221 ENSG00000105221 HGNC:392 BLM gene BLM Expert Review Green;Victorian Clinical Genetics Services Lipodystrophy_Lipoatrophy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bloom syndrome, MIM# 210900 Lipodystrophy;HP:0009125 28476236 False 3 100;0;0 1.17 True ENSG00000197299 ENSG00000197299 HGNC:1058 BSCL2 gene BSCL2 Expert Review Green;Victorian Clinical Genetics Services Lipodystrophy_Lipoatrophy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Lipodystrophy, congenital generalized, type 2, MIM# 269700;MONDO:0010020;Encephalopathy, progressive, with or without lipodystrophy, MIM# 615924;MONDO:0014402 Lipodystrophy;HP:0009125 11479539;15181077;15126564;23564749 False 3 100;0;0 1.17 True ENSG00000168000 ENSG00000168000 HGNC:15832 CAV1 gene CAV1 Expert Review Green;Victorian Clinical Genetics Services Lipodystrophy_Lipoatrophy Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Lipodystrophy, familial partial, type 7, autosomal dominant MIM# 606721;Lipodystrophy, congenital generalized, type 3, autosomal recessive, MIM# 612526 Lipodystrophy;HP:0009125 18237401;25898808;11739396;18211975;27717241;26176221 False 3 100;0;0 1.17 True ENSG00000105974 ENSG00000105974 HGNC:1527 CAVIN1 gene CAVIN1 Expert Review Green;Victorian Clinical Genetics Services Lipodystrophy_Lipoatrophy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Lipodystrophy, congenital generalized, type 4, MIM# 613327;MONDO:0013225 Lipodystrophy;HP:0009125 19726876;20300641;20684003;18840361 False 3 100;0;0 1.17 True ENSG00000177469 ENSG00000177469 HGNC:9688 EPHX1 gene EPHX1 Expert Review Green;Literature Lipodystrophy_Lipoatrophy Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary lipodystrophy, MONDO:0020087, EPHX1-related Lipodystrophy;HP:0009125 34342583 False 3 50;50;0 1.17 True ENSG00000143819 ENSG00000143819 HGNC:3401 ERCC6 gene ERCC6 Expert Review Green;Victorian Clinical Genetics Services Lipodystrophy_Lipoatrophy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Cockayne syndrome, type B, MIM# 133540 Lipodystrophy;HP:0009125 28476236 False 3 100;0;0 1.17 True ENSG00000225830 ENSG00000225830 HGNC:3438 ERCC8 gene ERCC8 Expert Review Green;Victorian Clinical Genetics Services Lipodystrophy_Lipoatrophy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Cockayne syndrome, type B, MIM# 133540 Lipodystrophy;HP:0009125 28476236 False 3 100;0;0 1.17 True ENSG00000049167 ENSG00000049167 HGNC:3439 FBN1 gene FBN1 Expert Review Green;Victorian Clinical Genetics Services Lipodystrophy_Lipoatrophy Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Marfan lipodystrophy syndrome, MIM# 616914 Lipodystrophy;HP:0009125 20979188;21594992;21594993;24613577;26860060;29666143 False 3 100;0;0 1.17 True ENSG00000166147 ENSG00000166147 HGNC:3603 KCNJ6 gene KCNJ6 Expert Review Green;Victorian Clinical Genetics Services Lipodystrophy_Lipoatrophy Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Keppen-Lubinsky syndrome, MIM# 614098;MONDO:0013572 Lipodystrophy;HP:0009125 25620207;29852244 False 3 100;0;0 1.17 True ENSG00000157542 ENSG00000157542 HGNC:6267 LIPE gene LIPE Expert Review Green;Victorian Clinical Genetics Services Lipodystrophy_Lipoatrophy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Lipodystrophy, familial partial, type 6, 615980 Lipodystrophy;HP:0009125 27862896;25475467;24848981 False 3 100;0;0 1.17 True ENSG00000079435 ENSG00000079435 HGNC:6621 LMNA gene LMNA Expert Review Green;Victorian Clinical Genetics Services Lipodystrophy_Lipoatrophy Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lipodystrophy, familial partial, type 2, MIM# 151660 Lipodystrophy;HP:0009125 10587585;10655060 False 3 100;0;0 1.17 True ENSG00000160789 ENSG00000160789 HGNC:6636 MTX2 gene MTX2 Expert Review Green;Literature Lipodystrophy_Lipoatrophy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Mandibuloacral dysplasia progeroid syndrome, MIM# 619127;Mandibuloacral dysplasia;lipodystrophy;arterial calcification Lipodystrophy;HP:0009125 32917887 False 3 100;0;0 1.17 True ENSG00000128654 ENSG00000128654 HGNC:7506 OTULIN gene OTULIN Expert list;Expert Review Green Lipodystrophy_Lipoatrophy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099" Lipodystrophy;HP:0009125 27523608;27559085 False 3 100;0;0 1.17 True ENSG00000154124 ENSG00000154124 HGNC:25118 PIK3R1 gene PIK3R1 Expert Review Green;Victorian Clinical Genetics Services Lipodystrophy_Lipoatrophy Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted SHORT syndrome, MIM# 269880;Lipodystrophy;insulin resistance Lipodystrophy;HP:0009125 32439336;28472977;26974159;24886349;24830046 False 3 100;0;0 1.17 True ENSG00000145675 ENSG00000145675 HGNC:8979 PLA2G16 gene PLA2G16 Expert Review Green;Literature Lipodystrophy_Lipoatrophy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Lipodystrophy, familial partial, type 9, MIM# 620683 Lipodystrophy;HP:0009125 PMID: 37919452 False 3 100;0;0 1.17 True ENSG00000176485 ENSG00000176485 HGNC:17825 POLD1 gene POLD1 Expert Review Green;Victorian Clinical Genetics Services Lipodystrophy_Lipoatrophy Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM# 615381;MONDO:0014157 Lipodystrophy;HP:0009125 23770608;33618333;33369179;32826474;30023403;29199204;28791128 False 3 100;0;0 1.17 True ENSG00000062822 ENSG00000062822 HGNC:9175 PPARG gene PPARG Expert Review Green;Victorian Clinical Genetics Services Lipodystrophy_Lipoatrophy Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lipodystrophy, familial partial, type 3, MIM# 604367;MONDO:0011448 Lipodystrophy;HP:0009125 10622252;12453919;11788685;31863320 False 3 100;0;0 1.17 True ENSG00000132170 ENSG00000132170 HGNC:9236 PSMB8 gene PSMB8 Expert Review Green;Victorian Clinical Genetics Services Lipodystrophy_Lipoatrophy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Proteasome-associated autoinflammatory syndrome 1, MIM# 256040;MONDO:0054698 Lipodystrophy;HP:0009125 21129723;21881205;21852578;21953331 False 3 100;0;0 1.17 True ENSG00000204264 ENSG00000204264 HGNC:9545 WRN gene WRN Expert Review Green;Victorian Clinical Genetics Services Lipodystrophy_Lipoatrophy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Werner syndrome, MIM# 277700;MONDO:0010196 Lipodystrophy;HP:0009125 28476236 False 3 100;0;0 1.17 True ENSG00000165392 ENSG00000165392 HGNC:12791 ZMPSTE24 gene ZMPSTE24 Expert Review Green;Victorian Clinical Genetics Services Lipodystrophy_Lipoatrophy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612;MONDO:0012074 Lipodystrophy;HP:0009125 11923874;22718200;29794150;29208544;12913070;27410998 False 3 100;0;0 1.17 True ENSG00000084073 ENSG00000084073 HGNC:12877