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 ADCY3 gene ADCY3 Expert Review Green;Literature;NHS GMS Severe early-onset obesity Endocrinology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Monogenic severe obesity;{Obesity, susceptibility to, BMIQ19}, OMIM:617885 29311636;29311637;35026759 False 3 100;0;0 5.21 False ENSG00000138031 ENSG00000138031 HGNC:234 ALMS1 gene ALMS1 Emory Genetics Laboratory;Expert list;Expert Review Green Severe early-onset obesity Endocrinology BIALLELIC, autosomal or pseudoautosomal Alstrom syndrome, OMIM:203800 False 3 100;0;0 5.21 False ENSG00000116127 ENSG00000116127 HGNC:428 ARL6 gene ARL6 Emory Genetics Laboratory;Expert list;Expert Review Green Severe early-onset obesity Endocrinology BIALLELIC, autosomal or pseudoautosomal Obesity;Bardet-Biedl syndrome 3, OMIM:600151 False 3 100;0;0 5.21 False ENSG00000113966 ENSG00000113966 HGNC:13210 BBS1 gene BBS1 Emory Genetics Laboratory;Expert list;Expert Review Green Severe early-onset obesity Endocrinology BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 1 OMIM:209900;Bardet-Biedl syndrome 1 MONDO:0008854 False 3 100;0;0 5.21 False ENSG00000174483 ENSG00000174483 HGNC:966 BBS10 gene BBS10 Emory Genetics Laboratory;Expert list;Expert Review Green Severe early-onset obesity Endocrinology BIALLELIC, autosomal or pseudoautosomal obesity;Bardet-Biedl syndrome 10, OMIM:615987 False 3 100;0;0 5.21 False ENSG00000179941 ENSG00000179941 HGNC:26291 BBS12 gene BBS12 Emory Genetics Laboratory;Expert list;Expert Review Green Severe early-onset obesity Endocrinology BIALLELIC, autosomal or pseudoautosomal obesity;Bardet-Biedl syndrome 12, OMIM:615989 False 3 100;0;0 5.21 False ENSG00000181004 ENSG00000181004 HGNC:26648 BBS2 gene BBS2 Emory Genetics Laboratory;Expert list;Expert Review Green Severe early-onset obesity Endocrinology BIALLELIC, autosomal or pseudoautosomal Obesity;Bardet-Biedl syndrome 2, OMIM:615981 False 3 100;0;0 5.21 False ENSG00000125124 ENSG00000125124 HGNC:967 BBS4 gene BBS4 Emory Genetics Laboratory;Expert list;Expert Review Green Severe early-onset obesity Endocrinology BIALLELIC, autosomal or pseudoautosomal Obesity;Bardet-Biedl syndrome 4, OMIM:615982 False 3 100;0;0 5.21 False ENSG00000140463 ENSG00000140463 HGNC:969 BBS5 gene BBS5 Emory Genetics Laboratory;Expert list;Expert Review Green Severe early-onset obesity Endocrinology BIALLELIC, autosomal or pseudoautosomal Obesity;Bardet-Biedl syndrome 5, OMIM:615983 False 3 100;0;0 5.21 False ENSG00000163093 ENSG00000163093 HGNC:970 BBS7 gene BBS7 Emory Genetics Laboratory;Expert list;Expert Review Green Severe early-onset obesity Endocrinology BIALLELIC, autosomal or pseudoautosomal Obesity;Bardet-Biedl syndrome 7, OMIM:615984 False 3 100;0;0 5.21 False ENSG00000138686 ENSG00000138686 HGNC:18758 BBS9 gene BBS9 Emory Genetics Laboratory;Expert list;Expert Review Green Severe early-onset obesity Endocrinology BIALLELIC, autosomal or pseudoautosomal Obesity;Bardet-Biedl syndrome 9, OMIM:615986 False 3 100;0;0 5.21 False ENSG00000122507 ENSG00000122507 HGNC:30000 CEP19 gene CEP19 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Severe early-onset obesity Endocrinology BIALLELIC, autosomal or pseudoautosomal Morbid obesity and spermatogenic failure, OMIM:615703 29127258;24268657 False 3 100;0;0 5.21 False ENSG00000174007 ENSG00000174007 HGNC:28209 CPE gene CPE Expert list;Expert Review Green;NHS GMS Severe early-onset obesity Endocrinology BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder and hypogonadotropic hypogonadism, OMIM:619326 15870393;15358678;26120850;32936766;34383079 False 3 67;33;0 5.21 False ENSG00000109472 ENSG00000109472 HGNC:2303 DYRK1B gene DYRK1B Expert Review Green;NHS GMS Severe early-onset obesity Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Abdominal obesity-metabolic syndrome 3, OMIM:615812 34193236;34786696;24827035 False 3 100;0;0 5.21 False ENSG00000105204 ENSG00000105204 HGNC:3092 GNAS gene GNAS Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS Severe early-onset obesity Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pseudohypoparathyroidism Ia, OMIM:103580;pseudohypoparathyroidism type 1A, MONDO:0007078;Pseudohypoparathyroidism Ic, OMIM:612462;pseudohypoparathyroidism type 1C, MONDO:0012911;Pseudopseudohypoparathyroidism, OMIM:612463;pseudopseudohypoparathyroidism, MONDO:0012912 27991864;28663568;28453643 False 3 100;0;0 5.21 False ENSG00000087460 ENSG00000087460 HGNC:4392 KIDINS220 gene KIDINS220 Expert Review Green;Literature;NHS GMS Severe early-onset obesity Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296 27005418;29667355;33763417 False 3 100;0;0 5.21 False ENSG00000134313 ENSG00000134313 HGNC:29508 LEP gene LEP Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Severe early-onset obesity Endocrinology BIALLELIC, autosomal or pseudoautosomal Obesity, morbid, due to leptin deficiency, OMIM:614962 False 3 100;0;0 5.21 False ENSG00000174697 ENSG00000174697 HGNC:6553 LEPR gene LEPR Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Severe early-onset obesity Endocrinology BIALLELIC, autosomal or pseudoautosomal Obesity, morbid, due to leptin receptor deficiency, OMIM:614963 27225180;26925581;25751111;24611737;23275530 False 3 100;0;0 5.21 False ENSG00000116678 ENSG00000116678 HGNC:6554 MC4R gene MC4R Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Severe early-onset obesity Endocrinology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Obesity (BMIQ20), OMIM:618406;{Obesity, resistence to (BMIQ20)}, OMIM:618306 False 3 100;0;0 5.21 False ENSG00000166603 ENSG00000166603 HGNC:6932 MKKS gene MKKS Emory Genetics Laboratory;Expert list;Expert Review Green Severe early-onset obesity Endocrinology BIALLELIC, autosomal or pseudoautosomal Obesity;Bardet-Biedl syndrome 6, OMIM:605231 False 3 100;0;0 5.21 False ENSG00000125863 ENSG00000125863 HGNC:7108 MKS1 gene MKS1 Emory Genetics Laboratory;Expert list;Expert Review Green Severe early-onset obesity Endocrinology BIALLELIC, autosomal or pseudoautosomal Obesity;Bardet-Biedl syndrome 13, OMIM:615990 False 3 100;0;0 5.21 False ENSG00000011143 ENSG00000011143 HGNC:7121 MYT1L gene MYT1L Expert list;Expert Review Green;Literature Severe early-onset obesity Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted obesity;Mental retardation, autosomal dominant 39, OMIM:616521 26240977;25232846;26240977;25232846;25126114;24129437;21990140 False 3 100;0;0 5.21 False ENSG00000186487 ENSG00000186487 HGNC:7623 NTRK2 gene NTRK2 Emory Genetics Laboratory;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Severe early-onset obesity Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Obesity, hyperphagia, and developmental delay, OMIM:613886 16702999;27884935;29100083;24950379;26727462;26629410;15494731 False 3 100;0;0 5.21 False ENSG00000148053 ENSG00000148053 HGNC:8032 PCSK1 gene PCSK1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Severe early-onset obesity Endocrinology BIALLELIC, autosomal or pseudoautosomal Obesity with impaired prohormone processing, OMIM:600955;obesity due to prohormone convertase I deficiency, MONDO:0010961;{Obesity, susceptibility to, BMIQ12},OMIM:612362 30383237 False 3 100;0;0 5.21 False ENSG00000175426 ENSG00000175426 HGNC:8743 PGM2L1 gene PGM2L1 Expert Review Green;Literature;NHS GMS Severe early-onset obesity Endocrinology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191 33979636 False 3 100;0;0 5.21 False ENSG00000165434 ENSG00000165434 HGNC:20898 PHF6 gene PHF6 Emory Genetics Laboratory;Expert list;Expert Review Green Severe early-onset obesity Endocrinology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Borjeson-Forssman-Lehmann syndrome, OMIM:301900 24092917;25099957 False 3 100;0;0 5.21 False ENSG00000156531 ENSG00000156531 HGNC:18145 PHIP gene PHIP Expert Review Green;Literature Severe early-onset obesity Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Obesity;global developmental delay;intellectual disability;behavioral abnormality;dysmorphic facies 27900362;29209020;31167805;32492392;33867250 False 3 100;0;0 5.21 False ENSG00000146247 ENSG00000146247 HGNC:15673 POMC gene POMC Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Severe early-onset obesity Endocrinology BIALLELIC, autosomal or pseudoautosomal {Obesity, early-onset, susceptibility to}, OMIM:601665;Obesity, adrenal insufficiency, and red hair due to POMC deficiency, OMIM:609734 False 3 100;0;0 5.21 False ENSG00000115138 ENSG00000115138 HGNC:9201 SDCCAG8 gene SDCCAG8 Emory Genetics Laboratory;Expert list;Expert Review Green Severe early-onset obesity Endocrinology BIALLELIC, autosomal or pseudoautosomal Obesity;Bardet-Biedl syndrome 16, OMIM:615993 False 3 100;0;0 5.21 False ENSG00000054282 ENSG00000054282 HGNC:10671 SIM1 gene SIM1 Emory Genetics Laboratory;Expert list;Expert Review;Expert Review Green;Radboud University Medical Center, Nijmegen Severe early-onset obesity Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted obesity;Congenital Obesity 25805767;24814368;24260538;24097297;23778139;23778136;16924270 False 3 100;0;0 5.21 False ENSG00000112246 ENSG00000112246 HGNC:10882 STX16 gene STX16 Expert Review Green;Literature;NHS GMS Severe early-onset obesity Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pseudohypoparathyroidism, type IB OMIM:603233;Obesity, HP:0001513 27338644;28453643 False 3 100;0;0 5.21 False ENSG00000124222 ENSG00000124222 HGNC:11431 TTC8 gene TTC8 Emory Genetics Laboratory;Expert list;Expert Review Green Severe early-onset obesity Endocrinology BIALLELIC, autosomal or pseudoautosomal Obesity;Bardet-Biedl syndrome 8, OMIM:615985 False 3 100;0;0 5.21 False ENSG00000165533 ENSG00000165533 HGNC:20087 VPS13B gene VPS13B Emory Genetics Laboratory;Expert list;Expert Review Green Severe early-onset obesity Endocrinology BIALLELIC, autosomal or pseudoautosomal Obesity;Cohen syndrome, OMIM:216550 False 3 100;0;0 5.21 False ENSG00000132549 ENSG00000132549 HGNC:2183 CEP290 gene CEP290 Emory Genetics Laboratory;Expert list;Expert Review Amber Severe early-onset obesity Endocrinology BIALLELIC, autosomal or pseudoautosomal Congenital Obesity;?Bardet-Biedl syndrome 14, OMIM:615991 23943788;18327255 False 2 50;50;0 5.21 False ENSG00000198707 ENSG00000198707 HGNC:29021 GNB1 gene GNB1 Expert Review Amber;Literature Severe early-onset obesity Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Obesity, HP:0001513 38596856 False 2 50;50;0 5.21 False ENSG00000078369 ENSG00000078369 HGNC:4396 INPP5E gene INPP5E Expert list;Expert Review Amber;Radboud University Medical Center, Nijmegen Severe early-onset obesity Endocrinology BIALLELIC, autosomal or pseudoautosomal Mental retardation, truncal obesity, retinal dystrophy, and micropenis, OMIM:610156 19668215;31173343 False 2 50;50;0 5.21 False ENSG00000148384 ENSG00000148384 HGNC:21474 KSR2 gene KSR2 Expert list;Expert Review;Expert Review Amber Severe early-onset obesity Endocrinology BOTH monoallelic and biallelic, autosomal or pseudoautosomal obesity 29273807 False 2 50;50;0 5.21 False ENSG00000171435 ENSG00000171435 HGNC:18610 SH2B1 gene SH2B1 Expert list;Expert Review Amber Severe early-onset obesity Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted obesity;Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency, MONDO:0017994 20808231;24971614;28663568;23160192 False 2 50;50;0 5.21 False ENSG00000178188 ENSG00000178188 HGNC:30417 TRPC5 gene TRPC5 Expert Review Amber;Literature Severe early-onset obesity Endocrinology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Obesity, HP:0001513 38959890 False 2 50;50;0 5.21 False ENSG00000072315 ENSG00000072315 HGNC:12337 TUB gene TUB Expert list;Expert Review Amber;Radboud University Medical Center, Nijmegen Severe early-onset obesity Endocrinology BIALLELIC, autosomal or pseudoautosomal ?Retinal dystrophy and obesity, OMIM:616188 24375934;22618246;22492381;19885003;18619628;18183286;17955208 (candidate for late-onset obesity);16643894;16443771;12076089;10629044;10196693;8612280 False 2 67;33;0 5.21 False ENSG00000166402 ENSG00000166402 HGNC:12406 AKR1C2 gene AKR1C2 Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Severe early-onset obesity Endocrinology Obesity, hyperphagia, and developmental delay False 1 0;0;100 5.21 False ENSG00000151632 ENSG00000151632 HGNC:385 MAGEL2 gene MAGEL2 Emory Genetics Laboratory;Expert list Severe early-onset obesity Endocrinology Congenital Obesity False 1 0;0;100 5.21 False ENSG00000254585 ENSG00000254585 HGNC:6814 MC3R gene MC3R Expert Review Red;Literature Severe early-onset obesity Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Obesity, severe, susceptibility to, BMIQ9}, OMIM:602025 31090190 False 1 50;0;50 5.21 False ENSG00000124089 ENSG00000124089 HGNC:6931 MRAP2 gene MRAP2 Expert list;Expert Review;Expert Review Red Severe early-onset obesity Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {?Obesity, susceptibility to, BMIQ18}, OMIM:615457 23869016;26795956;27474872;31700171 False 1 33;33;33 5.21 False ENSG00000135324 ENSG00000135324 HGNC:21232 NR0B2 gene NR0B2 Emory Genetics Laboratory;Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Severe early-onset obesity Endocrinology Obesity, mild, early-onset, 601665;Congenital Obesity False 1 0;0;100 5.21 False ENSG00000131910 ENSG00000131910 HGNC:7961 PPARG gene PPARG Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Severe early-onset obesity Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Obesity, severe, 601665; [Obesity, resistance to]; Insulin resistance, severe, digenic, 604367; Lipodystrophy, familial partial, type 3, 604367; Carotid intimal medial thickness 1, 609338; {Diabetes, type 2}, 125853 False 1 0;0;100 5.21 False ENSG00000132170 ENSG00000132170 HGNC:9236 TRIM32 gene TRIM32 Emory Genetics Laboratory;Expert list;Expert Review Red Severe early-onset obesity Endocrinology BIALLELIC, autosomal or pseudoautosomal ?Bardet-Biedl syndrome 11;615988 False 1 50;0;50 5.21 False ENSG00000119401 ENSG00000119401 HGNC:16380 WDPCP gene WDPCP Emory Genetics Laboratory;Expert list;Expert Review Red Severe early-onset obesity Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital Obesity 26518167 False 1 50;0;50 5.21 False ENSG00000143951 ENSG00000143951 HGNC:28027 ISCA-37404-Loss region Expert list;Expert Review Green;ClinGen Severe early-onset obesity Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown microcephaly;Developmental delay, muscle weakness;Mental retardation;Angelman syndrome;176270;Prader-Willi syndrome;105835 22045295;7611294 False 3 100;0;0 5.21 False 15 22782170 28134728 3 60 cnv_loss 15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss ISCA-37478-Loss region Expert list;Expert Review Green;ClinGen Severe early-onset obesity Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown microcephaly;Developmental delay, muscle weakness;Mental retardation;Angelman syndrome;176270;Prader-Willi syndrome;105830 22045295;7611294 False 3 100;0;0 5.21 False 15 23465365 28134728 3 60 cnv_loss 15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss ISCA-37486-Loss region Expert list;Expert Review Green;ClinGen Severe early-onset obesity Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown developmental delay;613444;obesity 23258348;19966786;20808231 False 3 100;0;0 5.21 False 16 28811314 29035178 3 60 cnv_loss 16p11.2 recurrent region (includes SH2B1) (distal region) (BP2-BP3) Loss