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 Severe insulin resistance and lipodystrophy syndromes Endocrinology BIALLELIC, autosomal or pseudoautosomal Lipodystrophy, congenital generalized, type 1, 608594 False 3 100;0;0 5.1 False ENSG00000169692 ENSG00000169692 HGNC:325 ALMS1 gene ALMS1 Expert list;Expert Review Green;NHS GMS Severe insulin resistance and lipodystrophy syndromes Endocrinology BIALLELIC, autosomal or pseudoautosomal Alstrom syndrome, OMIM:203800 16720663;29718281;32958032 False 3 100;0;0 5.1 False ENSG00000116127 ENSG00000116127 HGNC:428 BLM gene BLM Expert list;Expert Review Green;NHS GMS Severe insulin resistance and lipodystrophy syndromes Endocrinology BIALLELIC, autosomal or pseudoautosomal Bloom syndrome, OMIM:210900;Insulin resistance, HP:0000855 7585968;16763388;21536711;27710244;28232778;29477938 False 3 100;0;0 5.1 False ENSG00000197299 ENSG00000197299 HGNC:1058 BSCL2 gene BSCL2 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Severe insulin resistance and lipodystrophy syndromes Endocrinology BIALLELIC, autosomal or pseudoautosomal Lipodystrophy, congenital generalized, type 2, OMIM:269700;Encephalopathy, progressive, with or without lipodystrophy, OMIM:615924 False 3 100;0;0 5.1 False ENSG00000168000 ENSG00000168000 HGNC:15832 CAV1 gene CAV1 Expert Review;Expert Review Green Severe insulin resistance and lipodystrophy syndromes Endocrinology BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Lipodystrophy, congenital generalized, type 3, 612526;Lipodystrophy, familial partial, type 7, 606721 18390817;18237401;18211975;25898808;26176221;27717241;11739396;23049990 False 3 0;100;0 5.1 False ENSG00000105974 ENSG00000105974 HGNC:1527 CAVIN1 gene CAVIN1 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Severe insulin resistance and lipodystrophy syndromes Endocrinology BIALLELIC, autosomal or pseudoautosomal Lipodystrophy, congenital generalized, type 4, 613327 19726876 False 3 100;0;0 5.1 False ENSG00000177469 ENSG00000177469 HGNC:9688 EPHX1 gene EPHX1 Expert list;Expert Review Green;NHS GMS Severe insulin resistance and lipodystrophy syndromes Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted lipodystrophy, MONDO:0006573;Insulin resistance, HP:0000855 34342583 False 3 100;0;0 5.1 False Other ENSG00000143819 ENSG00000143819 HGNC:3401 FBN1 gene FBN1 Expert Review;Expert Review Green;NHS GMS Severe insulin resistance and lipodystrophy syndromes Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Marfan lipodystrophy syndrome, OMIM:616914 20979188;21594992;21594993;24613577;26860060;29666143 False 3 100;0;0 5.1 False ENSG00000166147 ENSG00000166147 HGNC:3603 INSR gene INSR Expert Review Green Severe insulin resistance and lipodystrophy syndromes Endocrinology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Diabetes mellitus, insulin-resistant, with acanthosis nigricans, OMIM:610549 False 3 0;0;0 5.1 False ENSG00000171105 ENSG00000171105 HGNC:6091 KCNJ6 gene KCNJ6 Expert Review;Expert Review Green;NHS GMS Severe insulin resistance and lipodystrophy syndromes Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Keppen-Lubinsky syndrome, OMIM:614098;Keppen-Lubinsky syndrome, MONDO:0013572 25620207;29852244 False 3 100;0;0 5.1 False ENSG00000157542 ENSG00000157542 HGNC:6267 LIPE gene LIPE Expert list;Expert Review;Expert Review Green Severe insulin resistance and lipodystrophy syndromes Endocrinology BIALLELIC, autosomal or pseudoautosomal Lipodystrophy, familial partial, type 6, 615980 27862896;25475467;24848981 False 3 0;0;0 5.1 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 Severe insulin resistance and lipodystrophy syndromes Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lipodystrophy, familial partial, 2, 151660 False 3 100;0;0 5.1 False ENSG00000160789 ENSG00000160789 HGNC:6636 MFN2 gene MFN2 Expert list;Expert Review Green;NHS GMS Severe insulin resistance and lipodystrophy syndromes Endocrinology BIALLELIC, autosomal or pseudoautosomal Lipomatosis, multiple symmetric, with or without peripheral neuropathy, OMIM:151800 26085578;28414270;30158064 False 3 100;0;0 5.1 False Other ENSG00000116688 ENSG00000116688 HGNC:16877 MTX2 gene MTX2 Expert Review Green;Literature Severe insulin resistance and lipodystrophy syndromes Endocrinology BIALLELIC, autosomal or pseudoautosomal Mandibuloacral dysplasia;lipodystrophy;arterial calcification 32917887 False 3 100;0;0 5.1 False ENSG00000128654 ENSG00000128654 HGNC:7506 OTULIN gene OTULIN Expert Review;Expert Review Green;NHS GMS Severe insulin resistance and lipodystrophy syndromes Endocrinology BIALLELIC, autosomal or pseudoautosomal Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099 27523608;27559085 False 3 100;0;0 5.1 False ENSG00000154124 ENSG00000154124 HGNC:25118 PCNT gene PCNT Expert list;Expert Review Green;NHS GMS Severe insulin resistance and lipodystrophy syndromes Endocrinology BIALLELIC, autosomal or pseudoautosomal Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720;Insulin resistance, HP:0000855 21270239 False 3 100;0;0 5.1 False ENSG00000160299 ENSG00000160299 HGNC:16068 PCYT1A gene PCYT1A Expert list;Expert Review Green;NHS GMS Severe insulin resistance and lipodystrophy syndromes Endocrinology BIALLELIC, autosomal or pseudoautosomal Spondylometaphyseal dysplasia with cone-rod dystrophy, OMIM:608940;congenital generalized lipodystrophy, MONDO:0006536;Insulin resistance, HP:0000855 18955728;24889630 False 3 100;0;0 5.1 False ENSG00000161217 ENSG00000161217 HGNC:8754 PIK3R1 gene PIK3R1 Expert list;Expert Review Green;NHS GMS Severe insulin resistance and lipodystrophy syndromes Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted SHORT syndrome, OMIM:269880 23810378;26497935;27710244;27766312 False 3 100;0;0 5.1 False Other ENSG00000145675 ENSG00000145675 HGNC:8979 PLA2G16 gene PLA2G16 Expert list;Expert Review Green;NHS GMS Severe insulin resistance and lipodystrophy syndromes Endocrinology BIALLELIC, autosomal or pseudoautosomal Associated with Lipodystrophy, familial partial, type 9, OMIM:620683;lipodystrophy, familial partial, type 9, MONDO:0958034 37919452 False 3 100;0;0 5.1 False ENSG00000176485 ENSG00000176485 HGNC:17825 PLIN1 gene PLIN1 Expert Review Green;Radboud University Medical Center, Nijmegen Severe insulin resistance and lipodystrophy syndromes Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lipodystrophy, familial partial, type 4, 613877 21345103;30020498;11371650;25695774;25114292;29747582 False 3 100;0;0 5.1 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 POC1A gene POC1A Expert list;Expert Review Green;NHS GMS Severe insulin resistance and lipodystrophy syndromes Endocrinology BIALLELIC, autosomal or pseudoautosomal Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, OMIM:614813;Insulin resistance, HP:0000855 22440536;26336158;28819016;33372278;35234134 False 3 100;0;0 5.1 False ENSG00000164087 ENSG00000164087 HGNC:24488 POLD1 gene POLD1 Expert Review Green;Radboud University Medical Center, Nijmegen Severe insulin resistance and lipodystrophy syndromes Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 25131834;26172944;23770608 False 3 100;0;0 5.1 False ENSG00000062822 ENSG00000062822 HGNC:9175 PPARG gene PPARG Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Severe insulin resistance and lipodystrophy syndromes Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Insulin resistance, severe, digenic 604367;Lipodystrophy, familial partial, type 3 604367 False 3 100;0;0 5.1 False ENSG00000132170 ENSG00000132170 HGNC:9236 PSMB4 gene PSMB4 Expert list;Expert Review Green;NHS GMS Severe insulin resistance and lipodystrophy syndromes Endocrinology BIALLELIC, autosomal or pseudoautosomal ?Proteasome-associated autoinflammatory syndrome 3 and digenic forms, OMIM:617591 26524591;34416217 False 3 100;0;0 5.1 False ENSG00000159377 ENSG00000159377 HGNC:9541 PSMB8 gene PSMB8 Expert list;Expert Review Green;NHS GMS Severe insulin resistance and lipodystrophy syndromes Endocrinology BIALLELIC, autosomal or pseudoautosomal Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040 20534754;21129723;21953331;26524591 False 3 100;0;0 5.1 False ENSG00000204264 ENSG00000204264 HGNC:9545 WRN gene WRN Expert list;Expert Review Green;NHS GMS Severe insulin resistance and lipodystrophy syndromes Endocrinology BIALLELIC, autosomal or pseudoautosomal Werner syndrome, OMIM:277700 22654791;23849162;27710244;35780059 False 3 100;0;0 5.1 False ENSG00000165392 ENSG00000165392 HGNC:12791 ZMPSTE24 gene ZMPSTE24 Expert Review Green;Radboud University Medical Center, Nijmegen Severe insulin resistance and lipodystrophy syndromes Endocrinology BIALLELIC, autosomal or pseudoautosomal Mandibuloacral dysplasia with type B lipodystrophy, 608612 18435794;16297189;20034068;12913070;15317753 False 3 100;0;0 5.1 False ENSG00000084073 ENSG00000084073 HGNC:12877