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 ACD gene ACD Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal dominant 6, OMIM:616553;Dyskeratosis congenita, autosomal recessive 7, OMIM:616553 30847515 False 2 0;100;0 1.214 False ENSG00000102977 ENSG00000102977 HGNC:25070 ACTL6A gene ACTL6A Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autism spectrum disorders or developmental disorders 30847515 False 2 0;100;0 1.214 False ENSG00000136518 ENSG00000136518 HGNC:24124 ADAM17 gene ADAM17 Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Inflammatory skin and bowel disease, neonatal, 1, 614328 30847515 False 2 0;100;0 1.214 False ENSG00000151694 ENSG00000151694 HGNC:195 APOL1 gene APOL1 Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Glomerulosclerosis, focal segmental, 4, susceptibility to}, 612551;{End-stage renal disease, nondiabetic, susceptibility to}, 612551 30847515 False 2 0;100;0 1.214 False ENSG00000100342 ENSG00000100342 HGNC:618 ATP8A2 gene ATP8A2 Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, 615268 30847515 False 2 0;100;0 1.214 False ENSG00000132932 ENSG00000132932 HGNC:13533 ATPAF2 gene ATPAF2 Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 30847515 False 2 0;100;0 1.214 False ENSG00000171953 ENSG00000171953 HGNC:18802 BCL10 gene BCL10 Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Immunodeficiency 37, 616098 30847515 False 2 0;100;0 1.214 False ENSG00000142867 ENSG00000142867 HGNC:989 BLNK gene BLNK Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Agammaglobulinemia 4, 613502 30847515 False 2 0;100;0 1.214 False ENSG00000095585 ENSG00000095585 HGNC:14211 CASP8 gene CASP8 Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Autoimmune lymphoproliferative syndrome, type IIB, 607271 30847515 False 2 0;100;0 1.214 False ENSG00000064012 ENSG00000064012 HGNC:1509 CDC6 gene CDC6 Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Meier-Gorlin syndrome 5, 613805 30847515 False 2 0;100;0 1.214 False ENSG00000094804 ENSG00000094804 HGNC:1744 CFB gene CFB Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Complement factor B deficiency, 615561 30847515 False 2 0;100;0 1.214 False ENSG00000243649 ENSG00000243649 HGNC:1037 COQ7 gene COQ7 Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Coenzyme Q10 deficiency, primary, 8, 616733 30847515 False 2 0;100;0 1.214 False ENSG00000167186 ENSG00000167186 HGNC:2244 COX14 gene COX14 Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex IV deficiency, 220110 30847515 False 2 0;100;0 1.214 False ENSG00000178449 ENSG00000178449 HGNC:28216 CPT1C gene CPT1C Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Spastic paraplegia 73, autosomal dominant, 616282 30847515 False 2 0;100;0 1.214 False ENSG00000169169 ENSG00000169169 HGNC:18540 DDOST gene DDOST Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Congenital disorder of glycosylation, type Ir, 614507 30847515 False 2 0;100;0 1.214 False ENSG00000244038 ENSG00000244038 HGNC:2728 DPP6 gene DPP6 Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mental retardation, autosomal dominant 33, 616311 21943606;23832105;29651237 False 2 0;100;0 1.214 False ENSG00000130226 ENSG00000130226 HGNC:3010 FASTKD2 gene FASTKD2 Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex IV deficiency, 220110 30847515 False 2 0;100;0 1.214 False ENSG00000118246 ENSG00000118246 HGNC:29160 FRMD4A gene FRMD4A Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819 30847515 False 2 0;100;0 1.214 False ENSG00000151474 ENSG00000151474 HGNC:25491 GAD1 gene GAD1 Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Cerebral palsy, spastic quadriplegic, 1, 603513 30847515 False 2 0;100;0 1.214 False ENSG00000128683 ENSG00000128683 HGNC:4092 GFI1 gene GFI1 Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Neutropenia, severe congenital 2, autosomal dominant, 613107;?Neutropenia, nonimmune chronic idiopathic, of adults, 607847 30847515 False 2 0;100;0 1.214 False ENSG00000162676 ENSG00000162676 HGNC:4237 HARS2 gene HARS2 Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Perrault syndrome 2, 614926 30847515 False 2 0;100;0 1.214 False ENSG00000112855 ENSG00000112855 HGNC:4817 HTT gene HTT Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Lopes-Maciel-Rodan syndrome, OMIM:617435;Lopes-Maciel-Rodan syndrome, MONDO:0054573 27329733;33432339;26740508;30847515 False 2 0;100;0 1.214 False ENSG00000197386 ENSG00000197386 HGNC:4851 HYAL1 gene HYAL1 Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Mucopolysaccharidosis type IX, 601492 30847515 False 2 0;100;0 1.214 False ENSG00000114378 ENSG00000114378 HGNC:5320 IL17F gene IL17F Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Candidiasis, familial, 6, autosomal dominant, 613956 30847515 False 2 0;100;0 1.214 False ENSG00000112116 ENSG00000112116 HGNC:16404 IL21 gene IL21 Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Immunodeficiency, common variable, 11, 615767 30847515 False 2 0;100;0 1.214 False ENSG00000138684 ENSG00000138684 HGNC:6005 IRF7 gene IRF7 Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Immunodeficiency 39, 616345 30847515 False 2 0;100;0 1.214 False ENSG00000185507 ENSG00000185507 HGNC:6122 KCNT2 gene KCNT2 Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Epileptic encephalopathy, early infantile, 57, 617771 30847515 False 2 0;100;0 1.214 False ENSG00000162687 ENSG00000162687 HGNC:18866 KIAA0753 gene KIAA0753 Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Orofaciodigital syndrome XV, 617127 30847515 False 2 0;100;0 1.214 False ENSG00000198920 ENSG00000198920 HGNC:29110 LCK gene LCK Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Immunodeficiency 22, 615758 30847515 False 2 0;100;0 1.214 False ENSG00000182866 ENSG00000182866 HGNC:6524 LIG1 gene LIG1 Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal DNA ligase I deficiency 30847515 False 2 0;100;0 1.214 False ENSG00000105486 ENSG00000105486 HGNC:6598 MAP3K14 gene MAP3K14 Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal 30847515 False 2 0;100;0 1.214 False ENSG00000006062 ENSG00000006062 HGNC:6853 MRPL44 gene MRPL44 Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 16, 615395 30847515 False 2 0;100;0 1.214 False ENSG00000135900 ENSG00000135900 HGNC:16650 MTPAP gene MTPAP Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Spastic ataxia 4, autosomal recessive, 613672 30847515 False 2 0;100;0 1.214 False ENSG00000107951 ENSG00000107951 HGNC:25532 NADK2 gene NADK2 Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?2,4-dienoyl-CoA reductase deficiency, 616034 30847515 False 2 0;100;0 1.214 False ENSG00000152620 ENSG00000152620 HGNC:26404 NCF4 gene NCF4 Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III, 613960 30847515 False 2 0;100;0 1.214 False ENSG00000100365 ENSG00000100365 HGNC:7662 NDUFA2 gene NDUFA2 Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex I deficiency, nuclear type 13, 618235 30847515 False 2 0;100;0 1.214 False ENSG00000131495 ENSG00000131495 HGNC:7685 NIN gene NIN Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Seckel syndrome 7, 614851 30847515 False 2 0;100;0 1.214 False ENSG00000100503 ENSG00000100503 HGNC:14906 PCK1 gene PCK1 Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic, 261680 30847515 False 2 0;100;0 1.214 False ENSG00000124253 ENSG00000124253 HGNC:8724 PEX11B gene PEX11B Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Peroxisome biogenesis disorder 14B, 614920 30847515 False 2 0;100;0 1.214 False ENSG00000131779 ENSG00000131779 HGNC:8853 PNPLA8 gene PNPLA8 Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Colorectal cancer, hereditary nonpolyposis, type 4, 614337;Mismatch repair cancer syndrome, 276300 30847515 False 2 0;100;0 1.214 False ENSG00000135241 ENSG00000135241 HGNC:28900 PRKACG gene PRKACG Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial myopathy with lactic acidosis, 251950 30847515 False 2 0;100;0 1.214 False ENSG00000165059 ENSG00000165059 HGNC:9382 PTCHD1 gene PTCHD1 Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Bleeding disorder, platelet-type, 19, 616176 30847515 False 2 0;100;0 1.214 False ENSG00000165186 ENSG00000165186 HGNC:26392 RB1 gene RB1 Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females {Autism, susceptibility to, X-linked 4}, 300830 30847515 False 2 0;100;0 1.214 False ENSG00000139687 ENSG00000139687 HGNC:9884 REEP2 gene REEP2 Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Small cell cancer of the lung, somatic, 182280;Osteosarcoma, somatic, 259500;Retinoblastoma, trilateral, 180200;Retinoblastoma, 180200;Bladder cancer, somatic, 109800 30847515 False 2 0;100;0 1.214 False ENSG00000132563 ENSG00000132563 HGNC:17975 RHOH gene RHOH Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Spastic paraplegia 72, autosomal dominant, 615625;?Spastic paraplegia 72, autosomal recessive, 615625 30847515 False 2 0;100;0 1.214 False ENSG00000168421 ENSG00000168421 HGNC:686 SCP2 gene SCP2 Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal {?Epidermodysplasia verruciformis, susceptibility to, 4}, 618307 30847515 False 2 0;100;0 1.214 False ENSG00000116171 ENSG00000116171 HGNC:10606 SEMA3E gene SEMA3E Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Leukoencephalopathy with dystonia and motor neuropathy, 613724 30847515 False 2 0;100;0 1.214 False ENSG00000170381 ENSG00000170381 HGNC:10727 SIGMAR1 gene SIGMAR1 Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?CHARGE syndrome, 214800 30847515 False 2 0;100;0 1.214 False ENSG00000147955 ENSG00000147955 HGNC:8157 SLC18A2 gene SLC18A2 Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Spinal muscular atrophy, distal, autosomal recessive, 2, 605726;?Amyotrophic lateral sclerosis 16, juvenile, 614373 30847515 False 2 0;100;0 1.214 False ENSG00000165646 ENSG00000165646 HGNC:10935 SLC25A32 gene SLC25A32 Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Parkinsonism-dystonia, infantile, 2, 618049 30847515 False 2 0;100;0 1.214 False ENSG00000164933 ENSG00000164933 HGNC:29683 SNAP25 gene SNAP25 Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Exercise intolerance, riboflavin-responsive, 616839 30847515 False 2 0;100;0 1.214 False ENSG00000132639 ENSG00000132639 HGNC:11132 SQSTM1 gene SQSTM1 Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Paget disease of bone 3, 167250;Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145;Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437;Myopathy, distal, with rimmed vacuoles, 617158 30847515 False 2 0;100;0 1.214 False ENSG00000161011 ENSG00000161011 HGNC:11280 TPM4 gene TPM4 Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Myasthenic syndrome, congenital, 18, 616330 30847515 False 2 0;100;0 1.214 False ENSG00000167460 ENSG00000167460 HGNC:12013 TRAF3 gene TRAF3 Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 30847515 False 2 0;100;0 1.214 False ENSG00000131323 ENSG00000131323 HGNC:12033 TSEN34 gene TSEN34 Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, 614849 30847515 False 2 0;100;0 1.214 False ENSG00000170892 ENSG00000170892 HGNC:15506 UNC119 gene UNC119 Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Pontocerebellar hypoplasia type 2C, 612390 30847515 False 2 0;100;0 1.214 False ENSG00000109103 ENSG00000109103 HGNC:12565 UROC1 gene UROC1 Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Immunodeficiency 13, 615518;?Cone-rod dystrophy 30847515 False 2 0;100;0 1.214 False ENSG00000159650 ENSG00000159650 HGNC:26444 WDPCP gene WDPCP Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Urocanase deficiency, 276880 30847515 False 2 0;100;0 1.214 False ENSG00000143951 ENSG00000143951 HGNC:28027 WIPF1 gene WIPF1 Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085;?Bardet-Biedl syndrome 15, 615992 30847515 False 2 0;100;0 1.214 False ENSG00000115935 ENSG00000115935 HGNC:12736 WNT3 gene WNT3 Expert list;Expert Review Amber;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Wiskott-Aldrich syndrome 2, 614493 30847515 False 2 0;100;0 1.214 False ENSG00000108379 ENSG00000108379 HGNC:12782