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;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Insulin resistance (including lipodystrophy) Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Lipodystrophy, congenital generalized, type 1, 608594 False 3 100;0;0 1.18 False ENSG00000169692 ENSG00000169692 HGNC:325 ALMS1 gene ALMS1 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Insulin resistance (including lipodystrophy) Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal "Alstrom syndrome 203800" False 3 100;0;0 1.18 False ENSG00000116127 ENSG00000116127 HGNC:428 BLM gene BLM Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Insulin resistance (including lipodystrophy) Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Bloom syndrome, OMIM:210900 False 3 100;0;0 1.18 False ENSG00000197299 ENSG00000197299 HGNC:1058 BSCL2 gene BSCL2 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Insulin resistance (including lipodystrophy) Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Lipodystrophy, congenital generalized, type 2, OMIM:269700;Encephalopathy, progressive, with or without lipodystrophy, OMIM:615924 False 3 100;0;0 1.18 False ENSG00000168000 ENSG00000168000 HGNC:15832 CAVIN1 gene CAVIN1 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Insulin resistance (including lipodystrophy) Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Lipodystrophy, congenital generalized, type 4, 613327 19726876 False 3 100;0;0 1.18 False ENSG00000177469 ENSG00000177469 HGNC:9688 INSR gene INSR Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Insulin resistance (including lipodystrophy) Disorders of unusual phenotypes Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549;Leprechaunism, 246200;Rabson-Mendenhall syndrome, 262190 False 3 100;0;0 1.18 False ENSG00000171105 ENSG00000171105 HGNC:6091 LIPE gene LIPE Expert list;Expert Review Green Insulin resistance (including lipodystrophy) Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal 27862896;25475467;24848981 False 3 100;0;0 1.18 False ENSG00000079435 ENSG00000079435 HGNC:6621 LMNA gene LMNA Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Insulin resistance (including lipodystrophy) Disorders of unusual phenotypes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lipodystrophy, familial partial, 2, 151660 False 3 100;0;0 1.18 False ENSG00000160789 ENSG00000160789 HGNC:6636 PCNT gene PCNT Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Insulin resistance (including lipodystrophy) Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720;Insulin resistance, HP:0000855 21270239 False 3 100;0;0 1.18 False ENSG00000160299 ENSG00000160299 HGNC:16068 PCYT1A gene PCYT1A Expert Review Green;Literature;Radboud University Medical Center, Nijmegen Insulin resistance (including lipodystrophy) Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal "Spondylometaphyseal dysplasia with cone-rod dystrophy 608940" 24889630 False 3 100;0;0 1.18 False ENSG00000161217 ENSG00000161217 HGNC:8754 PIK3R1 gene PIK3R1 Expert Review Green;Literature;UKGTN Insulin resistance (including lipodystrophy) Disorders of unusual phenotypes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "SHORT syndrome 269880" 23810382;23810379;23810378 False 3 100;0;0 1.18 False Other - please provide details in the comments ENSG00000145675 ENSG00000145675 HGNC:8979 POLD1 gene POLD1 Expert Review Green;Radboud University Medical Center, Nijmegen Insulin resistance (including lipodystrophy) Disorders of unusual phenotypes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 23770608;26172944;25131834 False 3 100;0;0 1.18 False ENSG00000062822 ENSG00000062822 HGNC:9175 PPARG gene PPARG Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Insulin resistance (including lipodystrophy) Disorders of unusual phenotypes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Insulin resistance, severe, digenic 604367;Lipodystrophy, familial partial, type 3 604367 False 3 100;0;0 1.18 False ENSG00000132170 ENSG00000132170 HGNC:9236 WRN gene WRN Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen Insulin resistance (including lipodystrophy) Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal "Werner syndrome 277700" 8602509 False 3 100;0;0 1.18 False ENSG00000165392 ENSG00000165392 HGNC:12791 ZMPSTE24 gene ZMPSTE24 Expert Review Green;Radboud University Medical Center, Nijmegen Insulin resistance (including lipodystrophy) Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Mandibuloacral dysplasia with type B lipodystrophy, 608612 12913070;15317753;16297189;20034068;18435794 False 3 100;0;0 1.18 False ENSG00000084073 ENSG00000084073 HGNC:12877 PLIN1 gene PLIN1 Expert Review Amber;Radboud University Medical Center, Nijmegen Insulin resistance (including lipodystrophy) Disorders of unusual phenotypes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lipodystrophy, familial partial, type 4, 613877 25114292;21345103;30020498 False 2 100;0;0 1.18 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000166819 ENSG00000166819 HGNC:9076 ADRA2A gene ADRA2A Expert list Insulin resistance (including lipodystrophy) Disorders of unusual phenotypes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown No OMIM number;familial partial lipodystrophy 27376152 False 1 0;0;100 1.18 False ENSG00000150594 ENSG00000150594 HGNC:281 AGPS gene AGPS Expert Review Red;Radboud University Medical Center, Nijmegen Insulin resistance (including lipodystrophy) Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Lipodystrophy, congenital generalized, type 1, 608594 False 1 0;0;100 1.18 False ENSG00000018510 ENSG00000018510 HGNC:327 AKT2 gene AKT2 Emory Genetics Laboratory;Expert Review Red;Literature;Radboud University Medical Center, Nijmegen Insulin resistance (including lipodystrophy) Disorders of unusual phenotypes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diabetes mellitus, type II, OMIM:125853;Type 2 diabetes mellitus, MONDO:0005148 15166380;17327441;17576055 False 1 100;0;0 1.18 False ENSG00000105221 ENSG00000105221 HGNC:392 CAV1 gene CAV1 Expert Review Red;Radboud University Medical Center, Nijmegen Insulin resistance (including lipodystrophy) Disorders of unusual phenotypes Endocrine disorders "Lipodystrophy, congenital generalized, type 3, 612526;Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome 606721" 18211975 False 1 0;0;100 1.18 False ENSG00000105974 ENSG00000105974 HGNC:1527 CIDEC gene CIDEC Emory Genetics Laboratory;Expert Review Red;Literature Insulin resistance (including lipodystrophy) Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal "Lipodystrophy, familial partial, type 5 615238" 20049731 False 1 100;0;0 1.18 False ENSG00000187288 ENSG00000187288 HGNC:24229 FGFR3 gene FGFR3 Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Insulin resistance (including lipodystrophy) Disorders of unusual phenotypes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypochondroplasia, 146000;Crouzon syndrome with acanthosis nigricans, 612247 False 1 0;0;100 1.18 False ENSG00000068078 ENSG00000068078 HGNC:3690 NSMCE2 gene NSMCE2 Expert Review Red;Literature Insulin resistance (including lipodystrophy) Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Dwarfism with extreme insulin resistance and acanthosis nigricans 25105364 False 1 50;0;50 1.18 False ENSG00000156831 ENSG00000156831 HGNC:26513 POC1A gene POC1A Expert Review Red;Literature Insulin resistance (including lipodystrophy) Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal "Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813" 26336158 False 1 0;0;100 1.18 False ENSG00000164087 ENSG00000164087 HGNC:24488 PPP1R3A gene PPP1R3A Expert Review Red;Radboud University Medical Center, Nijmegen Insulin resistance (including lipodystrophy) Disorders of unusual phenotypes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Insulin resistance, severe, digenic 125853" False 1 0;0;100 1.18 False ENSG00000154415 ENSG00000154415 HGNC:9291 PSMB8 gene PSMB8 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Insulin resistance (including lipodystrophy) Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040;Autoinflammation, lipodystrophy, and dermatosis syndrome False 1 0;0;100 1.18 False ENSG00000204264 ENSG00000204264 HGNC:9545