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 AKR1C2 gene AKR1C2 Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Severe early-onset obesity Obesity syndromes Endocrine disorders Obesity, hyperphagia, and developmental delay False 1 0;0;100 4.10 False ENSG00000151632 ENSG00000151632 HGNC:385 MAGEL2 gene MAGEL2 Emory Genetics Laboratory;Expert list Severe early-onset obesity Obesity syndromes Endocrine disorders Congenital Obesity False 1 0;0;100 4.10 False ENSG00000254585 ENSG00000254585 HGNC:6814 MRAP2 gene MRAP2 Expert list;Expert Review;Expert Review Red Severe early-onset obesity Obesity syndromes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted obesity;{?Obesity, susceptibility to, BMIQ18};Prader-Willi syndrome "23869016 - sequenced the coding region and intron/exon boundaries of MRAP2 in obese and control individuals from the Genetics of Obesity Study (GOOS) cohort and the Swedish obese children s cohort. They describe identifying 4 heterozygous variants in 4 individuals with severe obesity, of which only one was predicted to be damaging (E24X);27474872 - screened the entire coding region of MRAP2 for mutations in 184 children and adolescents with extreme obesity and 184 healthy lean controls. Nonsynonymous variants were then genotyped in a larger, independent study group of 300 children and adolescents with extreme obesity and 436 controls. Detected variants were also analyzed in vitro to determine their effects on MC4R signaling: p.Gln174Arg was the only variant to show an effect by reducing MC4R signalling function. Heterozygous variants were described in 4 individuals. For only two (p.Ala137Thr and p.Arg125His) were relatives also available, and the mothers of the probands were also heterozygous and had not/did not display an obesity phenotype. ""In sum, our family-based genetic data do not support the relevance of the two presumably benign MRAP2 mutations for the development of obesity, they might even have no influence on body weight regulation...additional functional analyses could well reveal a functional effect of all nonsynonymous MRAP2 mutations."" ""We detected association of nonsynonymous MRAP2 mutations to obesity (eight carriers of nonsynonymous mutations in 1,334 individuals with obesity vs. zero carriers of nonsynonymous mutations in 1,108 controls, nominal Fisher exact two-sided P<0.005) in a crude meta-analysis on all currently available data."";26795956 - a rare nonsynonymous variant, p.A40S, was detected in the MRAP2 gene in a 10-year old boy with overall obesity in combination with intellectual disability in a screen of Prader-Willi syndrome (PWS) patients. The clinically diagnosed PWS could not be confirmed molecularly with MS-MLPA and CNV analysis of the 6q14.1 q16.3 region also showed no deletions in this patient. No further family data were available to determine whether the variant segregates with obesity in this family. It was shown to be (probably) damaging by in silico analysis and found in only one European (non-Finnish) individual in the ExAC database (since this database cannot release phenotype information about the screened individuals, no conclusions regarding causality of this variant can be drawn)." False 1 0;0;100 4.10 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 Obesity syndromes Endocrine disorders Obesity, mild, early-onset, 601665;Congenital Obesity False 1 0;0;100 4.10 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 Obesity syndromes Endocrine disorders 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 4.10 False ENSG00000132170 ENSG00000132170 HGNC:9236 TRIM32 gene TRIM32 Emory Genetics Laboratory;Expert list;Expert Review Red Severe early-onset obesity Obesity syndromes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal ?Bardet-Biedl syndrome 11;615988 False 1 50;0;50 4.10 False ENSG00000119401 ENSG00000119401 HGNC:16380 WDPCP gene WDPCP Emory Genetics Laboratory;Expert list;Expert Review Red Severe early-onset obesity Obesity syndromes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital Obesity 26518167 False 1 50;0;50 4.10 False ENSG00000143951 ENSG00000143951 HGNC:28027