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 ALMS1 gene ALMS1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Severe early-onset obesity Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Alstrom syndrome, OMIM:203800 Obesity;HP:0001513 False 3 100;0;0 1.13 True ENSG00000116127 ENSG00000116127 HGNC:428 ARL6 gene ARL6 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Severe early-onset obesity Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 3, MIM# 600151 Obesity;HP:0001513 15258860;32361989;31888296;25402481 False 3 100;0;0 1.13 True ENSG00000113966 ENSG00000113966 HGNC:13210 BBS1 gene BBS1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Severe early-onset obesity Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 1 OMIM:209900;MONDO:0008854 Obesity;HP:0001513 20177705 False 3 100;0;0 1.13 True ENSG00000174483 ENSG00000174483 HGNC:966 BBS10 gene BBS10 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Severe early-onset obesity Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 10, MIM# 615987 Obesity;HP:0001513 16582908;19252258 False 3 100;0;0 1.13 True ENSG00000179941 ENSG00000179941 HGNC:26291 BBS12 gene BBS12 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Severe early-onset obesity Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 12, MIM# 615989 Obesity;HP:0001513 19797195;29633607;26082521 False 3 100;0;0 1.13 True ENSG00000181004 ENSG00000181004 HGNC:26648 BBS2 gene BBS2 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Severe early-onset obesity Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 2, MIM# 615981 Obesity;HP:0001513 11567139;16823392;28143435 False 3 100;0;0 1.13 True ENSG00000125124 ENSG00000125124 HGNC:967 BBS4 gene BBS4 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Severe early-onset obesity Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 4, MIM#615982 Obesity;HP:0001513 12016587;11381270 False 3 100;0;0 1.13 True ENSG00000140463 ENSG00000140463 HGNC:969 BBS5 gene BBS5 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Severe early-onset obesity Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 5, MIM#615983;MONDO:0014434 Obesity;HP:0001513 19252258;15137946;10053027;15637713 False 3 100;0;0 1.13 True ENSG00000163093 ENSG00000163093 HGNC:970 BBS7 gene BBS7 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Severe early-onset obesity Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 7, MIM# 615984 Obesity;HP:0001513 12567324;21937992;19797195 False 3 100;0;0 1.13 True ENSG00000138686 ENSG00000138686 HGNC:18758 BBS9 gene BBS9 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Severe early-onset obesity Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 9, MIM#615986 Obesity;HP:0001513 16380913;22353939;32686083;32037757 False 3 100;0;0 1.13 True ENSG00000122507 ENSG00000122507 HGNC:30000 CEP164 gene CEP164 Expert list;Expert Review Green Severe early-onset obesity Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome Obesity;HP:0001513 34132027;34013113;32055034;27708425;22863007 False 3 100;0;0 1.13 True ENSG00000110274 ENSG00000110274 HGNC:29182 CEP290 gene CEP290 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Severe early-onset obesity Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 14, MIM# 615991 Obesity;HP:0001513 18327255;23943788 False 3 100;0;0 1.13 True ENSG00000198707 ENSG00000198707 HGNC:29021 CPE gene CPE Expert Review Green;Genomics England PanelApp Severe early-onset obesity Endocrine disorders BIALLELIC, autosomal or pseudoautosomal BDV syndrome, MIM# 619326;Intellectual developmental disorder and hypogonadotropic hypogonadism Obesity;HP:0001513 15870393;34383079;15358678;26120850;32936766;34383079 False 3 100;0;0 1.13 True ENSG00000109472 ENSG00000109472 HGNC:2303 GNAS gene GNAS Expert Review Green;Genomics England PanelApp Severe early-onset obesity Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Pseudohypoparathyroidism Ia, MIM# 103580;Pseudohypoparathyroidism Ic, MIM# 612462;Pseudopseudohypoparathyroidism, MIM# 612463 Obesity;HP:0001513 28663568;28453643;27991864 False 3 100;0;0 1.13 True ENSG00000087460 ENSG00000087460 HGNC:4392 HTR2C gene HTR2C Expert Review Green;Literature Severe early-onset obesity Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Obesity disorder, MONDO:0011122, HTR2C-related Obesity;HP:0001513 36536256 False 3 100;0;0 1.13 True ENSG00000147246 ENSG00000147246 HGNC:5295 IFT172 gene IFT172 Expert list;Expert Review Green Severe early-onset obesity Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 20, MIM# 619471 Obesity;HP:0001513 30761183;26763875;25168386 False 3 100;0;0 1.13 True ENSG00000138002 ENSG00000138002 HGNC:30391 IFT27 gene IFT27 Expert Review Green;Literature Severe early-onset obesity Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 19, MIM#615996 Obesity;HP:0001513 24488770;30761183;26763875;25443296 False 3 100;0;0 1.13 True ENSG00000100360 ENSG00000100360 HGNC:18626 IFT74 gene IFT74 Expert list;Expert Review Green Severe early-onset obesity Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 20, MIM# 617119 Obesity;HP:0001513 27486776;32144365 False 3 100;0;0 1.13 True ENSG00000096872 ENSG00000096872 HGNC:21424 KIDINS220 gene KIDINS220 Expert Review;Expert Review Green Severe early-onset obesity Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296 Obesity;HP:0001513 27005418;29667355;33763417 False 3 100;0;0 1.13 True ENSG00000134313 ENSG00000134313 HGNC:29508 LEP gene LEP Expert Review Green;Genomics England PanelApp Severe early-onset obesity Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Obesity, morbid, due to leptin deficiency, OMIM:614962 Obesity;HP:0001513 9202122;12393845;15472169;25551525;7984236 False 3 100;0;0 1.13 True ENSG00000174697 ENSG00000174697 HGNC:6553 LEPR gene LEPR Expert Review Green;Genomics England PanelApp Severe early-onset obesity Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Obesity, morbid, due to leptin receptor deficiency, OMIM:614963 Obesity;HP:0001513 24611737;27225180;23275530;25751111;26925581;17229951;29545012 False 3 100;0;0 1.13 True ENSG00000116678 ENSG00000116678 HGNC:6554 LRRC7 gene LRRC7 Expert Review Green;Literature Severe early-onset obesity Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder (MONDO:0700092), LRRC7-related Obesity;HP:0001513 39256359 False 3 100;0;0 1.13 True ENSG00000033122 ENSG00000033122 HGNC:18531 LZTFL1 gene LZTFL1 Expert list;Expert Review Green Severe early-onset obesity Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 17 (MIM#615994) Obesity;HP:0001513 22510444;23692385;27312011;22072986 False 3 100;0;0 1.13 True ENSG00000163818 ENSG00000163818 HGNC:6741 MAGEL2 gene MAGEL2 Expert Review Green;Genomics England PanelApp Severe early-onset obesity Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Schaaf-Yang syndrome, MIM# 615547;Obesity Obesity;HP:0001513 30238631;24076603;27195816 False 3 100;0;0 1.13 True ENSG00000254585 ENSG00000254585 HGNC:6814 MC4R gene MC4R Expert Review Green;Genomics England PanelApp Severe early-onset obesity Endocrine disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Obesity (BMIQ20) MIM#618406 Obesity;HP:0001513 12646665;34238466;32805220 False 3 100;0;0 1.13 True ENSG00000166603 ENSG00000166603 HGNC:6932 MKKS gene MKKS Expert Review Green;Genomics England PanelApp Severe early-onset obesity Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 6, OMIM:605231;Obesity Obesity;HP:0001513 10973251 False 3 100;0;0 1.13 True ENSG00000125863 ENSG00000125863 HGNC:7108 MKS1 gene MKS1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Severe early-onset obesity Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 13, MIM# 615990;MONDO:0014441 Obesity;HP:0001513 18327255;24608809 False 3 100;0;0 1.13 True ENSG00000011143 ENSG00000011143 HGNC:7121 MYT1L gene MYT1L Expert Review Green;Genomics England PanelApp Severe early-onset obesity Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 39, MIM# 616521;Obesity Obesity;HP:0001513 25232846;21990140;25126114;26240977;24129437;33622623 False 3 100;0;0 1.13 True ENSG00000186487 ENSG00000186487 HGNC:7623 NTRK2 gene NTRK2 Expert Review Green;Genomics England PanelApp Severe early-onset obesity Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Obesity, hyperphagia, and developmental delay, OMIM:613886 Obesity;HP:0001513 27884935;29100083;24950379;16702999;26629410;26727462;15494731 False 3 100;0;0 1.13 True ENSG00000148053 ENSG00000148053 HGNC:8032 PCSK1 gene PCSK1 Expert Review Green;Genomics England PanelApp Severe early-onset obesity Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Obesity with impaired prohormone processing MIM#600955 Obesity;HP:0001513 30383237 False 3 100;0;0 1.13 True ENSG00000175426 ENSG00000175426 HGNC:8743 PGM2L1 gene PGM2L1 Expert Review Green;Genomics England PanelApp Severe early-onset obesity Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder;obesity Obesity;HP:0001513 33979636 False 3 100;0;0 1.13 True ENSG00000165434 ENSG00000165434 HGNC:20898 PHF6 gene PHF6 Expert Review Green;Genomics England PanelApp Severe early-onset obesity Endocrine disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Borjeson-Forssman-Lehmann syndrome, OMIM:301900 Obesity;HP:0001513 32399860 False 3 100;0;0 1.13 True ENSG00000156531 ENSG00000156531 HGNC:18145 PHIP gene PHIP Expert Review Green;Genomics England PanelApp Severe early-onset obesity Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Chung-Jansen syndrome 617991 Obesity;HP:0001513 27900362;31167805;32492392;29209020;33867250 False 3 100;0;0 1.13 True ENSG00000146247 ENSG00000146247 HGNC:15673 POMC gene POMC Expert Review Green;Genomics England PanelApp Severe early-onset obesity Endocrine disorders BIALLELIC, autosomal or pseudoautosomal {Obesity, early-onset, susceptibility to}, OMIM:601665;Obesity, adrenal insufficiency, and red hair due to POMC deficiency, OMIM:609734 Obesity;HP:0001513 33666293 False 3 100;0;0 1.13 True ENSG00000115138 ENSG00000115138 HGNC:9201 SCAPER gene SCAPER Expert list;Expert Review Green Severe early-onset obesity Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder and retinitis pigmentosa, OMIM #618195;Bardet-Biedl syndrome Obesity;HP:0001513 30723319;28794130;31069901;31192531;30723319 False 3 100;0;0 1.13 True ENSG00000140386 ENSG00000140386 HGNC:13081 SDCCAG8 gene SDCCAG8 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Severe early-onset obesity Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 16, MIM# 615993;MONDO:0014444 Obesity;HP:0001513 20835237;22626039;22626039 False 3 100;0;0 1.13 True ENSG00000054282 ENSG00000054282 HGNC:10671 SIM1 gene SIM1 Expert Review Green;Genomics England PanelApp Severe early-onset obesity Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted congenital obesity;Prader-Willi-like syndrome Obesity;HP:0001513 24097297;25805767;24260538;23778136;16924270;23778139;24814368 False 3 100;0;0 1.13 True ENSG00000112246 ENSG00000112246 HGNC:10882 TTC8 gene TTC8 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Severe early-onset obesity Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 8, MIM# 615985 Obesity;HP:0001513 14520415;19797195 False 3 100;0;0 1.13 True ENSG00000165533 ENSG00000165533 HGNC:20087 VPS13B gene VPS13B Expert Review Green;Genomics England PanelApp Severe early-onset obesity Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Cohen syndrome MIM#216550 Obesity;HP:0001513 30473963 False 3 100;0;0 1.13 True ENSG00000132549 ENSG00000132549 HGNC:2183