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 ATG16L1 gene ATG16L1 Expert list;Expert Review Red;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 30847515 False 1 0;100;0 1.214 False ENSG00000085978 ENSG00000085978 HGNC:21498 CD46 gene CD46 Expert list;Expert Review Red;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Inflammatory bowel disease (Crohn disease) 10}, 611081 30847515 False 1 0;100;0 1.214 False ENSG00000117335 ENSG00000117335 HGNC:6953 CFHR1 gene CFHR1 Expert list;Expert Review Red;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Hemolytic uremic syndrome, atypical, susceptibility to, 2}, 612922 30847515 False 1 0;100;0 1.214 False ENSG00000244414 ENSG00000244414 HGNC:4888 CFHR2 gene CFHR2 Expert list;Expert Review Red;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400;{Macular degeneration, age-related, reduced risk of}, 603075 30847515 False 1 0;100;0 1.214 False ENSG00000080910 ENSG00000080910 HGNC:4890 CFHR3 gene CFHR3 Expert list;Expert Review Red;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal 30847515 False 1 0;100;0 1.214 False ENSG00000116785 ENSG00000116785 HGNC:16980 CFHR4 gene CFHR4 Expert list;Expert Review Red;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400;{Macular degeneration, age-related, reduced risk of}, 603075 30847515 False 1 0;100;0 1.214 False ENSG00000134365 ENSG00000134365 HGNC:16979 CPA6 gene CPA6 Expert list;Expert Review Red;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epilepsy, familial temporal lobe, 5, 614417;Febrile seizures, familial, 11, 614418 30847515 False 1 0;33;67 1.214 False ENSG00000165078 ENSG00000165078 HGNC:17245 DCXR gene DCXR Expert list;Expert Review Red;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal 30847515 False 1 0;100;0 1.214 False ENSG00000169738 ENSG00000169738 HGNC:18985 DRD2 gene DRD2 Expert list;Expert Review Red;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal [Pentosuria], 260800 30847515 False 1 0;100;0 1.214 False ENSG00000149295 ENSG00000149295 HGNC:3023 EZH1 gene EZH1 Expert list;Expert Review Red;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia 30847515 False 1 0;100;0 1.214 False ENSG00000108799 ENSG00000108799 HGNC:3526 FPR1 gene FPR1 Expert list;Expert Review Red;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal 30847515 False 1 0;100;0 1.214 False ENSG00000171051 ENSG00000171051 HGNC:3826 GNAQ gene GNAQ Expert list;Expert Review Red;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Periodontitis, susceptibility to 30847515 False 1 0;100;0 1.214 False ENSG00000156052 ENSG00000156052 HGNC:4390 HMGA2 gene HMGA2 Expert list;Expert Review Red;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Silver-Russell syndrome 5, OMIM:618908;Silver-Russell syndrome 5, MONDO:0020795 30847515 False 1 0;100;0 1.214 False ENSG00000149948 ENSG00000149948 HGNC:5009 IDH1 gene IDH1 Expert list;Expert Review Red;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Leiomyoma, uterine, somatic, 150699 30847515 False 1 0;100;0 1.214 False ENSG00000138413 ENSG00000138413 HGNC:5382 IL10 gene IL10 Expert list;Expert Review Red;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal {Glioma, susceptibility to, somatic}, 137800 30847515 False 1 0;100;0 1.214 False ENSG00000136634 ENSG00000136634 HGNC:5962 IL17A gene IL17A Expert list;Expert Review Red;Next Generation Children Project Research panel - Severe Paediatric Disorders Unknown {HIV-1, susceptibility to}, 609423;{Graft-versus-host disease, protection against}, 614395;{Rheumatoid arthritis, progression of}, 180300 30847515 False 1 0;100;0 1.214 False ENSG00000112115 ENSG00000112115 HGNC:5981 IL22 gene IL22 Expert list;Expert Review Red;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 5;Arthritis 30847515 False 1 0;100;0 1.214 False ENSG00000127318 ENSG00000127318 HGNC:14900 ITGAM gene ITGAM Expert list;Expert Review Red;Next Generation Children Project Research panel - Severe Paediatric Disorders Unknown AutoAb Chronic Mucocutaneous Candidiasis. 30847515 False 1 0;100;0 1.214 False ENSG00000169896 ENSG00000169896 HGNC:6149 KIRREL3 gene KIRREL3 Expert list;Expert Review Red;Next Generation Children Project Research panel - Severe Paediatric Disorders Unknown Systemic lupus erythematous, suscpetibility to 30847515 False 1 0;100;0 1.214 False ENSG00000149571 ENSG00000149571 HGNC:23204 MBL2 gene MBL2 Expert list;Expert Review Red;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mental retardation 30847515 False 1 0;100;0 1.214 False ENSG00000165471 ENSG00000165471 HGNC:6922 MEN1 gene MEN1 Expert list;Expert Review Red;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Chronic infections, due to MBL deficiency}, 614372 30847515 False 1 0;100;0 1.214 False ENSG00000133895 ENSG00000133895 HGNC:7010 MUTYH gene MUTYH Expert list;Expert Review Red;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Angiofibroma, somatic;Carcinoid tumor of lung;Multiple endocrine neoplasia 1, 131100;Lipoma, somatic;Adrenal adenoma, somatic;Parathyroid adenoma, somatic 30847515 False 1 0;100;0 1.214 False ENSG00000132781 ENSG00000132781 HGNC:7527 NFAT5 gene NFAT5 Expert list;Expert Review Red;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, 132600;Adenomas, multiple colorectal, 608456;Gastric cancer, somatic, 613659 30847515 False 1 0;100;0 1.214 False ENSG00000102908 ENSG00000102908 HGNC:7774 NRXN3 gene NRXN3 Expert list;Expert Review Red;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 4, kidney papillary necrosis, IBD, recurrent sinopulmolnary infections, NFAT5 haploinsufficieny 30847515 False 1 0;100;0 1.214 False ENSG00000021645 ENSG00000021645 HGNC:8010 PRICKLE2 gene PRICKLE2 Expert list;Expert Review Red;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autism 30847515 False 1 0;100;0 1.214 False ENSG00000163637 ENSG00000163637 HGNC:20340 PRNP gene PRNP Expert list;Expert Review Red;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Creutzfeldt-Jakob disease, 123400;Huntington disease-like 1, 603218;Insomnia, fatal familial, 600072;Prion disease with protracted course, 606688;Cerebral amyloid angiopathy, PRNP-related, 137440;Gerstmann-Straussler disease, 137440 30847515 False 1 0;33;67 1.214 False ENSG00000171867 ENSG00000171867 HGNC:9449 RNF135 gene RNF135 Expert list;Expert Review Red;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy, progressive myoclonic 5, 613832 30847515 False 1 0;100;0 1.214 False ENSG00000181481 ENSG00000181481 HGNC:21158 RNF31 gene RNF31 Expert list;Expert Review Red;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Macrocephaly, macrosomia, facial dysmorphism syndrome, 614192 30847515 False 1 0;100;0 1.214 False ENSG00000092098 ENSG00000092098 HGNC:16031 RPS15 gene RPS15 Expert list;Expert Review Red;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polyglucosan body myopathy, early-onset, with or without immunodeficiency 30847515 False 1 0;100;0 1.214 False ENSG00000115268 ENSG00000115268 HGNC:10388 SART3 gene SART3 Expert list;Expert Review Red;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 30847515 False 1 0;100;0 1.214 False ENSG00000075856 ENSG00000075856 HGNC:16860 SIM1 gene SIM1 Expert list;Expert Review Red;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Porokeratosis 30847515 False 1 0;100;0 1.214 False ENSG00000112246 ENSG00000112246 HGNC:10882 SLC6A20 gene SLC6A20 Expert list;Expert Review Red;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Iminoglycinuria, digenic, 242600;Hyperglycinuria, 138500 30847515 False 1 0;50;50 1.214 False ENSG00000163817 ENSG00000163817 HGNC:30927 SMO gene SMO Expert list;Expert Review Red;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Severe obesity with neurobehavioral features 30847515 False 1 0;100;0 1.214 False ENSG00000128602 ENSG00000128602 HGNC:11119 TNFRSF4 gene TNFRSF4 Expert list;Expert Review Red;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Basal cell carcinoma, somatic, 605462;Curry-Jones syndrome, somatic mosaic, 601707 30847515 False 1 0;100;0 1.214 False ENSG00000186827 ENSG00000186827 HGNC:11918 TNFSF12 gene TNFSF12 Expert list;Expert Review Red;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Immunodeficiency 16, 615593 30847515 False 1 0;100;0 1.214 False ENSG00000239697 ENSG00000239697 HGNC:11927 TRAF3IP2 gene TRAF3IP2 Expert list;Expert Review Red;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable with lack of anti-pneumococcal antibody 30847515 False 1 0;100;0 1.214 False ENSG00000056972 ENSG00000056972 HGNC:1343 VPS35 gene VPS35 Expert list;Expert Review Red;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Candidiasis, familial, 8, 615527 30847515 False 1 0;100;0 1.214 False ENSG00000069329 ENSG00000069329 HGNC:13487