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 AAAS gene AAAS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Achalasia-addisonianism-alacrimia syndrome, OMIM:231550;Triple-A syndrome, MONDO:0009279 30847515 False 3 0;100;0 1.214 False ENSG00000094914 ENSG00000094914 HGNC:13666 AARS gene AARS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287;Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212;Developmental and epileptic encephalopathy 29, OMIM:616339;Developmental and epileptic encephalopathy, 29, MONDO:0014593 30847515 False 3 0;100;0 1.214 False ENSG00000090861 ENSG00000090861 HGNC:20 AARS2 gene AARS2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, progressive, with ovarian failure, 615889;Combined oxidative phosphorylation deficiency 8, 614096 30847515 False 3 0;100;0 1.214 False ENSG00000124608 ENSG00000124608 HGNC:21022 AASS gene AASS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hyperlysinemia, OMIM:238700;Hyperlysinemia (disease), MONDO:0009388 30847515 False 3 0;100;0 1.214 False ENSG00000008311 ENSG00000008311 HGNC:17366 ABAT gene ABAT Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal GABA-transaminase deficiency, 613163 30847515 False 3 0;100;0 1.214 False ENSG00000183044 ENSG00000183044 HGNC:23 ABCA1 gene ABCA1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal HDL deficiency, familial, 1, 604091;Tangier disease, 205400 30847515 False 3 0;100;0 1.214 False ENSG00000165029 ENSG00000165029 HGNC:29 ABCA12 gene ABCA12 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 4B (harlequin), 242500;Ichthyosis, congenital, autosomal recessive 4A, 601277 30847515 False 3 0;100;0 1.214 False ENSG00000144452 ENSG00000144452 HGNC:14637 ABCA3 gene ABCA3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Surfactant metabolism dysfunction, pulmonary, 3, 610921 30847515 False 3 0;100;0 1.214 False ENSG00000167972 ENSG00000167972 HGNC:33 ABCA4 gene ABCA4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinal dystrophy, early-onset severe, 248200;Fundus flavimaculatus, 248200;Stargardt disease 1, 248200;Cone-rod dystrophy 3, 604116;Retinitis pigmentosa 19, 601718 30847515 False 3 0;100;0 1.214 False ENSG00000198691 ENSG00000198691 HGNC:34 ABCB11 gene ABCB11 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic 2, 601847;Cholestasis, benign recurrent intrahepatic, 2, 605479 30847515 False 3 0;100;0 1.214 False ENSG00000073734 ENSG00000073734 HGNC:42 ABCB4 gene ABCB4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic 3, 602347;Gallbladder disease 1, 600803;Cholestasis, intrahepatic, of pregnancy, 3, 614972 30847515 False 3 0;100;0 1.214 False ENSG00000005471 ENSG00000005471 HGNC:45 ABCB7 gene ABCB7 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Anemia, sideroblastic, with ataxia, 301310 30847515 False 3 0;100;0 1.214 False ENSG00000131269 ENSG00000131269 HGNC:48 ABCC2 gene ABCC2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Dubin-Johnson syndrome, 237500 30847515 False 3 0;100;0 1.214 False ENSG00000023839 ENSG00000023839 HGNC:53 ABCC6 gene ABCC6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arterial calcification, generalized, of infancy, 2, 614473;Pseudoxanthoma elasticum, 264800;Pseudoxanthoma elasticum, forme fruste, 177850 30847515 False 3 0;100;0 1.214 False ENSG00000091262 ENSG00000091262 HGNC:57 ABCC8 gene ABCC8 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Diabetes mellitus, transient neonatal 2, 610374;Hypoglycemia of infancy, leucine-sensitive, 240800;Diabetes mellitus, permanent neonatal, 606176;Hyperinsulinemic hypoglycemia, familial, 1, 256450;Diabetes mellitus, noninsulin-dependent, 125853 30847515 False 3 0;100;0 1.214 False ENSG00000006071 ENSG00000006071 HGNC:59 ABCC9 gene ABCC9 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, dilated, 1O, 608569;Hypertrichotic osteochondrodysplasia, 239850;Atrial fibrillation, familial, 12, 614050 30847515 False 3 0;100;0 1.214 False ENSG00000069431 ENSG00000069431 HGNC:60 ABCD1 gene ABCD1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Adrenomyeloneuropathy, adult, 300100;Adrenoleukodystrophy, 300100 30847515 False 3 0;100;0 1.214 False ENSG00000101986 ENSG00000101986 HGNC:61 ABCD4 gene ABCD4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblJ type, 614857 30847515 False 3 0;100;0 1.214 False ENSG00000119688 ENSG00000119688 HGNC:68 ABCG5 gene ABCG5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Sitosterolemia, 210250 30847515 False 3 0;100;0 1.214 False ENSG00000138075 ENSG00000138075 HGNC:13886 ABCG8 gene ABCG8 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Sitosterolemia, 210250 30847515 False 3 0;100;0 1.214 False ENSG00000143921 ENSG00000143921 HGNC:13887 ABHD12 gene ABHD12 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674 30847515 False 3 0;100;0 1.214 False ENSG00000100997 ENSG00000100997 HGNC:15868 ABHD5 gene ABHD5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Chanarin-Dorfman syndrome, 275630 30847515 False 3 0;100;0 1.214 False ENSG00000011198 ENSG00000011198 HGNC:21396 ABL1 gene ABL1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital heart defects and skeletal malformations syndrome, 617602;Leukemia, Philadelphia chromosome-positive, resistant to imatinib, 608232 30847515 False 3 0;100;0 1.214 False ENSG00000097007 ENSG00000097007 HGNC:76 ACAD8 gene ACAD8 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Isobutyryl-CoA dehydrogenase deficiency, 611283 30847515 False 3 0;100;0 1.214 False ENSG00000151498 ENSG00000151498 HGNC:87 ACAD9 gene ACAD9 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 20, 611126 30847515 False 3 0;100;0 1.214 False ENSG00000177646 ENSG00000177646 HGNC:21497 ACADM gene ACADM Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450 30847515 False 3 0;100;0 1.214 False ENSG00000117054 ENSG00000117054 HGNC:89 ACADS gene ACADS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 30847515 False 3 0;100;0 1.214 False ENSG00000122971 ENSG00000122971 HGNC:90 ACADSB gene ACADSB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal 2-methylbutyrylglycinuria, 610006 30847515 False 3 0;100;0 1.214 False ENSG00000196177 ENSG00000196177 HGNC:91 ACADVL gene ACADVL Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal VLCAD deficiency, 201475 30847515 False 3 0;100;0 1.214 False ENSG00000072778 ENSG00000072778 HGNC:92 ACAN gene ACAN Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spondyloepimetaphyseal dysplasia, aggrecan type, 612813;Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800;?Spondyloepiphyseal dysplasia, Kimberley type, 608361 30847515 False 3 0;100;0 1.214 False ENSG00000157766 ENSG00000157766 HGNC:319 ACAT1 gene ACAT1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Alpha-methylacetoacetic aciduria, 203750 30847515 False 3 0;100;0 1.214 False ENSG00000075239 ENSG00000075239 HGNC:93 ACE gene ACE Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Renal tubular dysgenesis, 267430 30847515 False 3 0;100;0 1.214 False ENSG00000159640 ENSG00000159640 HGNC:2707 ACO2 gene ACO2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Infantile cerebellar-retinal degeneration, 614559 30847515;34056600 False 3 0;100;0 1.214 False ENSG00000100412 ENSG00000100412 HGNC:118 ACOX1 gene ACOX1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Peroxisomal acyl-CoA oxidase deficiency, 264470 30847515 False 3 0;100;0 1.214 False ENSG00000161533 ENSG00000161533 HGNC:119 ACP5 gene ACP5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Spondyloenchondrodysplasia with immune dysregulation, 607944 30847515 False 3 0;100;0 1.214 False ENSG00000102575 ENSG00000102575 HGNC:124 ACSF3 gene ACSF3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Combined malonic and methylmalonic aciduria, 614265 30847515 False 3 0;100;0 1.214 False ENSG00000176715 ENSG00000176715 HGNC:27288 ACSL4 gene ACSL4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mental retardation, X-linked 63, 300387 30847515 False 3 0;100;0 1.214 False ENSG00000068366 ENSG00000068366 HGNC:3571 ACTA1 gene ACTA1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myopathy, actin, congenital, with excess of thin myofilaments, 161800;Nemaline myopathy 3, autosomal dominant or recessive, 161800;Myopathy, congenital, with fiber-type disproportion 1, 255310;Myopathy, actin, congenital, with cores, 161800 30847515 False 3 0;100;0 1.214 False ENSG00000143632 ENSG00000143632 HGNC:129 ACTA2 gene ACTA2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Multisystemic smooth muscle dysfunction syndrome, 613834;Moyamoya disease 5, 614042;Aortic aneurysm, familial thoracic 6, 611788 30847515 False 3 0;100;0 1.214 False ENSG00000107796 ENSG00000107796 HGNC:130 ACTB gene ACTB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Baraitser-Winter syndrome 1, 243310 30847515 False 3 0;100;0 1.214 False ENSG00000075624 ENSG00000075624 HGNC:132 ACTC1 gene ACTC1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Left ventricular noncompaction 4, 613424;Atrial septal defect 5, 612794;Cardiomyopathy, dilated, 1R, 613424;Cardiomyopathy, hypertrophic, 11, 612098 30847515 False 3 0;100;0 1.214 False ENSG00000159251 ENSG00000159251 HGNC:143 ACTG1 gene ACTG1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Baraitser-Winter syndrome 2, 614583;Deafness, autosomal dominant 20/26, 604717 30847515 False 3 0;100;0 1.214 False ENSG00000184009 ENSG00000184009 HGNC:144 ACTG2 gene ACTG2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Visceral myopathy, 155310 30847515 False 3 0;100;0 1.214 False ENSG00000163017 ENSG00000163017 HGNC:145 ACTL6B gene ACTL6B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Intellectual developmental disorder with severe speech and ambulation defects, 618470;Epileptic encephalopathy, early infantile, 76, 618468 30847515 False 3 0;100;0 1.214 False ENSG00000077080 ENSG00000077080 HGNC:160 ACTN1 gene ACTN1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Bleeding disorder, platelet-type, 15, 615193 30847515 False 3 0;100;0 1.214 False ENSG00000072110 ENSG00000072110 HGNC:163 ACTN4 gene ACTN4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Glomerulosclerosis, focal segmental, 1, 603278 30847515 False 3 0;100;0 1.214 False ENSG00000130402 ENSG00000130402 HGNC:166 ACVR1 gene ACVR1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Fibrodysplasia ossificans progressiva, 135100 30847515 False 3 0;100;0 1.214 False ENSG00000115170 ENSG00000115170 HGNC:171 ACVR2B gene ACVR2B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Heterotaxy, visceral, 4, autosomal, 613751 30847515 False 3 0;100;0 1.214 False ENSG00000114739 ENSG00000114739 HGNC:174 ACVRL1 gene ACVRL1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Telangiectasia, hereditary hemorrhagic, type 2, 600376 30847515 False 3 0;100;0 1.214 False ENSG00000139567 ENSG00000139567 HGNC:175 ACY1 gene ACY1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Aminoacylase 1 deficiency, 609924 30847515 False 3 0;100;0 1.214 False ENSG00000243989 ENSG00000243989 HGNC:177 ADA gene ADA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Adenosine deaminase deficiency, partial, 102700;Severe combined immunodeficiency due to ADA deficiency, 102700 30847515 False 3 0;100;0 1.214 False ENSG00000196839 ENSG00000196839 HGNC:186 ADA2 gene ADA2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688;Sneddon syndrome, OMIM:182410 30847515 False 3 0;100;0 1.214 False ENSG00000093072 ENSG00000093072 HGNC:1839 ADAMTS10 gene ADAMTS10 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Weill-Marchesani syndrome 1, recessive, 277600 30847515 False 3 0;100;0 1.214 False ENSG00000142303 ENSG00000142303 HGNC:13201 ADAMTS13 gene ADAMTS13 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150 30847515 False 3 0;100;0 1.214 False ENSG00000160323 ENSG00000160323 HGNC:1366 ADAMTS17 gene ADAMTS17 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Weill-Marchesani 4 syndrome, recessive, 613195 30847515 False 3 0;100;0 1.214 False ENSG00000140470 ENSG00000140470 HGNC:17109 ADAMTSL2 gene ADAMTSL2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Geleophysic dysplasia 1, 231050 30847515 False 3 0;100;0 1.214 False ENSG00000197859 ENSG00000197859 HGNC:14631 ADAR gene ADAR Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 6, 615010;Dyschromatosis symmetrica hereditaria, 127400 30847515 False 3 0;100;0 1.214 False ENSG00000160710 ENSG00000160710 HGNC:225 ADAT3 gene ADAT3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 36, 615286 30847515 False 3 0;100;0 1.214 False ENSG00000213638 ENSG00000213638 HGNC:25151 ADCY5 gene ADCY5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dyskinesia, familial, with facial myokymia, 606703 30847515 False 3 0;100;0 1.214 False ENSG00000173175 ENSG00000173175 HGNC:236 ADD3 gene ADD3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Cerebral palsy, spastic quadriplegic, 3, 617008 30847515 False 3 0;100;0 1.214 False ENSG00000148700 ENSG00000148700 HGNC:245 ADGRG1 gene ADGRG1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Polymicrogyria, bilateral perisylvian, 615752;Polymicrogyria, bilateral frontoparietal, 606854 30847515 False 3 0;100;0 1.214 False ENSG00000205336 ENSG00000205336 HGNC:4512 ADGRG6 gene ADGRG6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Lethal congenital contracture syndrome 9, 616503 30847515 False 3 0;100;0 1.214 False ENSG00000112414 ENSG00000112414 HGNC:13841 ADGRV1 gene ADGRV1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472;Usher syndrome, type 2C, 605472 30847515 False 3 0;100;0 1.214 False ENSG00000164199 ENSG00000164199 HGNC:17416 ADK gene ADK Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hypermethioninemia due to adenosine kinase deficiency, 614300 30847515 False 3 0;100;0 1.214 False ENSG00000156110 ENSG00000156110 HGNC:257 ADNP gene ADNP Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Helsmoortel-van der Aa syndrome, 615873 30847515 False 3 0;100;0 1.214 False ENSG00000101126 ENSG00000101126 HGNC:15766 ADPRHL2 gene ADPRHL2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures OMIM:618170;neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures MONDO:0100095 30847515;30100084;30401461 False 3 0;100;0 1.214 False ENSG00000116863 ENSG00000116863 HGNC:21304 ADSL gene ADSL Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Adenylosuccinase deficiency, 103050 30847515 False 3 0;100;0 1.214 False ENSG00000239900 ENSG00000239900 HGNC:291 AFF2 gene AFF2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked, FRAXE type, 309548 30847515 False 3 0;100;0 1.214 False ENSG00000155966 ENSG00000155966 HGNC:3776 AFF4 gene AFF4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CHOPS syndrome, 616368 30847515 False 3 0;100;0 1.214 False ENSG00000072364 ENSG00000072364 HGNC:17869 AFG3L2 gene AFG3L2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spinocerebellar ataxia 28, 610246;Spastic ataxia 5, autosomal recessive, 614487 30847515 False 3 0;100;0 1.214 False ENSG00000141385 ENSG00000141385 HGNC:315 AGA gene AGA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Aspartylglucosaminuria, 208400 30847515 False 3 0;100;0 1.214 False ENSG00000038002 ENSG00000038002 HGNC:318 AGK gene AGK Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Sengers syndrome, 212350;Cataract 38, autosomal recessive, 614691 30847515 False 3 0;100;0 1.214 False ENSG00000006530 ENSG00000006530 HGNC:21869 AGL gene AGL Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IIIb, 232400;Glycogen storage disease IIIa, 232400 30847515 False 3 0;100;0 1.214 False ENSG00000162688 ENSG00000162688 HGNC:321 AGPS gene AGPS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Rhizomelic chondrodysplasia punctata, type 3, 600121 30847515 False 3 0;100;0 1.214 False ENSG00000018510 ENSG00000018510 HGNC:327 AGRN gene AGRN Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 30847515 False 3 0;100;0 1.214 False ENSG00000188157 ENSG00000188157 HGNC:329 AGT gene AGT Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Renal tubular dysgenesis, 267430 30847515 False 3 0;100;0 1.214 False ENSG00000135744 ENSG00000135744 HGNC:333 AGTR1 gene AGTR1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Renal tubular dysgenesis, 267430 30847515 False 3 0;100;0 1.214 False ENSG00000144891 ENSG00000144891 HGNC:336 AGXT gene AGXT Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hyperoxaluria, primary, type 1, 259900 30847515 False 3 0;100;0 1.214 False ENSG00000172482 ENSG00000172482 HGNC:341 AHDC1 gene AHDC1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Xia-Gibbs syndrome, 615829 30847515 False 3 0;100;0 1.214 False ENSG00000126705 ENSG00000126705 HGNC:25230 AHI1 gene AHI1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 3, 608629 30847515 False 3 0;100;0 1.214 False ENSG00000135541 ENSG00000135541 HGNC:21575 AICDA gene AICDA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency with hyper-IgM, type 2, 605258 30847515 False 3 0;100;0 1.214 False ENSG00000111732 ENSG00000111732 HGNC:13203 AIFM1 gene AIFM1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Combined oxidative phosphorylation deficiency 6, 300816;Cowchock syndrome, 310490;Deafness, X-linked 5, 300614 30847515 False 3 0;100;0 1.214 False ENSG00000156709 ENSG00000156709 HGNC:8768 AIMP1 gene AIMP1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 3, 260600 30847515 False 3 0;100;0 1.214 False ENSG00000164022 ENSG00000164022 HGNC:10648 AIPL1 gene AIPL1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy, 604393;Leber congenital amaurosis 4, 604393;Retinitis pigmentosa, juvenile, 604393 30847515 False 3 0;100;0 1.214 False ENSG00000129221 ENSG00000129221 HGNC:359 AIRE gene AIRE Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 30847515 False 3 0;100;0 1.214 False ENSG00000160224 ENSG00000160224 HGNC:360 AK1 gene AK1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hemolytic anemia due to adenylate kinase deficiency, 612631 30847515 False 3 0;100;0 1.214 False ENSG00000106992 ENSG00000106992 HGNC:361 AK2 gene AK2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Reticular dysgenesis, 267500 30847515 False 3 0;100;0 1.214 False ENSG00000004455 ENSG00000004455 HGNC:362 AKR1D1 gene AKR1D1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 2, 235555 30847515 False 3 0;100;0 1.214 False ENSG00000122787 ENSG00000122787 HGNC:388 AKT1 gene AKT1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cowden syndrome 6, 615109 30847515 False 3 0;100;0 1.214 False ENSG00000142208 ENSG00000142208 HGNC:391 AKT3 gene AKT3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937 30847515 False 3 0;100;0 1.214 False ENSG00000117020 ENSG00000117020 HGNC:393 ALAD gene ALAD Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Porphyria, acute hepatic, 612740 30847515 False 3 0;100;0 1.214 False ENSG00000148218 ENSG00000148218 HGNC:395 ALAS2 gene ALAS2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Anemia, sideroblastic, 1, 300751;Protoporphyria, erythropoietic, X-linked, 300752 30847515 False 3 0;100;0 1.214 False ENSG00000158578 ENSG00000158578 HGNC:397 ALB gene ALB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Analbuminemia, OMIM:616000;[Dysalbuminemic hyperthyroxinemia], OMIM:615999;?[Dysalbuminemic hypertriiodothyroninemia], OMIM:615999 30847515 False 3 0;100;0 1.214 False ENSG00000163631 ENSG00000163631 HGNC:399 ALDH18A1 gene ALDH18A1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIIA, 219150;Spastic paraplegia 9A, autosomal dominant, 601162;Cutis laxa, autosomal dominant 3, 616603;Spastic paraplegia 9B, autosomal recessive, 616586 30847515 False 3 0;100;0 1.214 False ENSG00000059573 ENSG00000059573 HGNC:9722 ALDH1A3 gene ALDH1A3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Microphthalmia, isolated 8, 615113 30847515 False 3 0;100;0 1.214 False ENSG00000184254 ENSG00000184254 HGNC:409 ALDH3A2 gene ALDH3A2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Sjogren-Larsson syndrome, 270200 30847515 False 3 0;100;0 1.214 False ENSG00000072210 ENSG00000072210 HGNC:403 ALDH4A1 gene ALDH4A1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hyperprolinemia, type II, 239510 30847515 False 3 0;100;0 1.214 False ENSG00000159423 ENSG00000159423 HGNC:406 ALDH5A1 gene ALDH5A1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Succinic semialdehyde dehydrogenase deficiency, 271980 30847515 False 3 0;100;0 1.214 False ENSG00000112294 ENSG00000112294 HGNC:408 ALDH6A1 gene ALDH6A1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Methylmalonate semialdehyde dehydrogenase deficiency, 614105 30847515 False 3 0;100;0 1.214 False ENSG00000119711 ENSG00000119711 HGNC:7179 ALDH7A1 gene ALDH7A1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, pyridoxine-dependent, 266100 30847515 False 3 0;100;0 1.214 False ENSG00000164904 ENSG00000164904 HGNC:877 ALDOA gene ALDOA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease XII, 611881 30847515 False 3 0;100;0 1.214 False ENSG00000149925 ENSG00000149925 HGNC:414 ALDOB gene ALDOB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Fructose intolerance, hereditary, 229600 30847515 False 3 0;100;0 1.214 False ENSG00000136872 ENSG00000136872 HGNC:417 ALG1 gene ALG1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ik, 608540 30847515 False 3 0;100;0 1.214 False ENSG00000033011 ENSG00000033011 HGNC:18294 ALG11 gene ALG11 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ip, 613661 30847515 False 3 0;100;0 1.214 False ENSG00000253710 ENSG00000253710 HGNC:32456 ALG12 gene ALG12 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ig, 607143 30847515 False 3 0;100;0 1.214 False ENSG00000182858 ENSG00000182858 HGNC:19358 ALG13 gene ALG13 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Epileptic encephalopathy, early infantile, 36, 300884 30847515 False 3 0;100;0 1.214 False ENSG00000101901 ENSG00000101901 HGNC:30881 ALG3 gene ALG3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Id, 601110 30847515 False 3 0;100;0 1.214 False ENSG00000214160 ENSG00000214160 HGNC:23056 ALG6 gene ALG6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ic, 603147 30847515 False 3 0;100;0 1.214 False ENSG00000088035 ENSG00000088035 HGNC:23157 ALG8 gene ALG8 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ih, 608104;Polycystic liver disease 3 with or without kidney cysts, 617874 30847515 False 3 0;100;0 1.214 False ENSG00000159063 ENSG00000159063 HGNC:23161 ALG9 gene ALG9 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Il, 608776;Gillessen-Kaesbach-Nishimura syndrome, 263210 30847515 False 3 0;100;0 1.214 False ENSG00000086848 ENSG00000086848 HGNC:15672 ALKBH8 gene ALKBH8 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 71, 618504 30847515 False 3 0;100;0 1.214 False ENSG00000137760 ENSG00000137760 HGNC:25189 ALMS1 gene ALMS1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Alstrom syndrome, 203800 30847515 False 3 0;100;0 1.214 False ENSG00000116127 ENSG00000116127 HGNC:428 ALOX12B gene ALOX12B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 2, 242100 30847515 False 3 0;100;0 1.214 False ENSG00000179477 ENSG00000179477 HGNC:430 ALOXE3 gene ALOXE3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 3, 606545 30847515 False 3 0;100;0 1.214 False ENSG00000179148 ENSG00000179148 HGNC:13743 ALPL gene ALPL Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypophosphatasia, childhood, 241510;Hypophosphatasia, adult, 146300;Hypophosphatasia, infantile, 241500;Odontohypophosphatasia, 146300 30847515 False 3 0;100;0 1.214 False ENSG00000162551 ENSG00000162551 HGNC:438 ALS2 gene ALS2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Amyotrophic lateral sclerosis 2, juvenile, 205100;Primary lateral sclerosis, juvenile, 606353;Spastic paralysis, infantile onset ascending, 607225 30847515 False 3 0;100;0 1.214 False ENSG00000003393 ENSG00000003393 HGNC:443 ALX1 gene ALX1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Frontonasal dysplasia 3, 613456 30847515 False 3 0;100;0 1.214 False ENSG00000180318 ENSG00000180318 HGNC:1494 ALX3 gene ALX3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Frontonasal dysplasia 1, 136760 30847515 False 3 0;100;0 1.214 False ENSG00000156150 ENSG00000156150 HGNC:449 ALX4 gene ALX4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Parietal foramina 2, 609597;Frontonasal dysplasia 2, 613451 30847515 False 3 0;100;0 1.214 False ENSG00000052850 ENSG00000052850 HGNC:450 AMACR gene AMACR Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Alpha-methylacyl-CoA racemase deficiency, 614307;Bile acid synthesis defect, congenital, 4, 214950 30847515 False 3 0;100;0 1.214 False ENSG00000242110 ENSG00000242110 HGNC:451 AMELX gene AMELX Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Amelogenesis imperfecta, type 1E, 301200 30847515 False 3 0;100;0 1.214 False ENSG00000125363 ENSG00000125363 HGNC:461 AMER1 gene AMER1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Osteopathia striata with cranial sclerosis, 300373 30847515 False 3 0;100;0 1.214 False ENSG00000184675 ENSG00000184675 HGNC:26837 AMMECR1 gene AMMECR1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990 30847515 False 3 0;100;0 1.214 False ENSG00000101935 ENSG00000101935 HGNC:467 AMN gene AMN Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Megaloblastic anemia-1, Norwegian type, 261100 30847515 False 3 0;100;0 1.214 False ENSG00000166126 ENSG00000166126 HGNC:14604 AMPD2 gene AMPD2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 9, 615809;?Spastic paraplegia 63, 615686 30847515 False 3 0;100;0 1.214 False ENSG00000116337 ENSG00000116337 HGNC:469 AMT gene AMT Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Glycine encephalopathy, 605899 30847515 False 3 0;100;0 1.214 False ENSG00000145020 ENSG00000145020 HGNC:473 ANK1 gene ANK1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spherocytosis, type 1, 182900 30847515 False 3 0;100;0 1.214 False ENSG00000029534 ENSG00000029534 HGNC:492 ANKH gene ANKH Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Craniometaphyseal dysplasia, 123000;Chondrocalcinosis 2, 118600 30847515 False 3 0;100;0 1.214 False ENSG00000154122 ENSG00000154122 HGNC:15492 ANKRD11 gene ANKRD11 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown KBG syndrome, 148050 30847515 False 3 0;100;0 1.214 False ENSG00000167522 ENSG00000167522 HGNC:21316 ANKRD26 gene ANKRD26 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Thrombocytopenia 2, 188000 30847515 False 3 0;100;0 1.214 False ENSG00000107890 ENSG00000107890 HGNC:29186 ANKS6 gene ANKS6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 16, 615382 30847515 False 3 0;100;0 1.214 False ENSG00000165138 ENSG00000165138 HGNC:26724 ANO10 gene ANO10 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 10, 613728 30847515 False 3 0;100;0 1.214 False ENSG00000160746 ENSG00000160746 HGNC:25519 ANO3 gene ANO3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia 24, 615034 30847515 False 3 0;100;0 1.214 False ENSG00000134343 ENSG00000134343 HGNC:14004 ANO5 gene ANO5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 12, 611307;Miyoshi muscular dystrophy 3, 613319;Gnathodiaphyseal dysplasia, 166260 30847515 False 3 0;100;0 1.214 False ENSG00000171714 ENSG00000171714 HGNC:27337 ANO6 gene ANO6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Scott syndrome, 262890 30847515 False 3 0;100;0 1.214 False ENSG00000177119 ENSG00000177119 HGNC:25240 ANOS1 gene ANOS1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), 308700 30847515 False 3 0;100;0 1.214 False ENSG00000011201 ENSG00000011201 HGNC:6211 ANTXR1 gene ANTXR1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal GAPO syndrome, 230740 30847515 False 3 0;100;0 1.214 False ENSG00000169604 ENSG00000169604 HGNC:21014 ANTXR2 gene ANTXR2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hyaline fibromatosis syndrome, 228600 30847515 False 3 0;100;0 1.214 False ENSG00000163297 ENSG00000163297 HGNC:21732 AP1S1 gene AP1S1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal MEDNIK syndrome, 609313 30847515 False 3 0;100;0 1.214 False ENSG00000106367 ENSG00000106367 HGNC:559 AP1S2 gene AP1S2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked syndromic 5, 304340 30847515 False 3 0;100;0 1.214 False ENSG00000182287 ENSG00000182287 HGNC:560 AP2M1 gene AP2M1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual developmental disorder 60 with seizures, 618587 30847515 False 3 0;100;0 1.214 False ENSG00000161203 ENSG00000161203 HGNC:564 AP3B1 gene AP3B1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 2, 608233 30847515 False 3 0;100;0 1.214 False ENSG00000132842 ENSG00000132842 HGNC:566 AP3B2 gene AP3B2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 48, 617276 30847515 False 3 0;100;0 1.214 False ENSG00000103723 ENSG00000103723 HGNC:567 AP3D1 gene AP3D1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Hermansky-Pudlak syndrome 10, 617050 30847515 False 3 0;50;50 1.214 False ENSG00000065000 ENSG00000065000 HGNC:568 AP4B1 gene AP4B1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 47, autosomal recessive, OMIM:614066;Hereditary spastic paraplegia 47, MONDO:0013551 30847515 False 3 0;100;0 1.214 False ENSG00000134262 ENSG00000134262 HGNC:572 AP4E1 gene AP4E1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 51, autosomal recessive, 613744;Stuttering, familial persistent, 1, 184450 30847515 False 3 0;100;0 1.214 False ENSG00000081014 ENSG00000081014 HGNC:573 AP4M1 gene AP4M1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 50, autosomal recessive, 612936 30847515 False 3 0;100;0 1.214 False ENSG00000221838 ENSG00000221838 HGNC:574 AP4S1 gene AP4S1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 52, autosomal recessive, 614067 30847515 False 3 0;100;0 1.214 False ENSG00000100478 ENSG00000100478 HGNC:575 AP5Z1 gene AP5Z1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 48, autosomal recessive, 613647 30847515 False 3 0;100;0 1.214 False ENSG00000242802 ENSG00000242802 HGNC:22197 APC gene APC Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brain tumor-polyposis syndrome 2, 175100;Adenomatous polyposis coli, 175100;Desmoid disease, hereditary, 135290;Gardner syndrome, 175100 30847515 False 3 0;100;0 1.214 False ENSG00000134982 ENSG00000134982 HGNC:583 APOA1 gene APOA1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyloidosis, 3 or more types, 105200;ApoA-I and apoC-III deficiency, combined, 618463;Hypoalphalipoproteinemia, primary, 2, with or without corneal clouding, 618463 30847515 False 3 0;100;0 1.214 False ENSG00000118137 ENSG00000118137 HGNC:600 APOA5 gene APOA5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hyperchylomicronemia, late-onset, 144650 30847515 False 3 0;100;0 1.214 False ENSG00000110243 ENSG00000110243 HGNC:17288 APOB gene APOB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypobetalipoproteinemia, 615558;Hypercholesterolemia, familial, 2, 144010 30847515 False 3 0;100;0 1.214 False ENSG00000084674 ENSG00000084674 HGNC:603 APOC2 gene APOC2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hyperlipoproteinemia, type Ib, 207750 30847515 False 3 0;100;0 1.214 False ENSG00000234906 ENSG00000234906 HGNC:609 APOE gene APOE Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Lipoprotein glomerulopathy, 611771;Hyperlipoproteinemia, type III, 617347;Sea-blue histiocyte disease, 269600 30847515 False 3 0;100;0 1.214 False ENSG00000130203 ENSG00000130203 HGNC:613 APOPT1 gene APOPT1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, 220110 30847515 False 3 0;100;0 1.214 False ENSG00000256053 ENSG00000256053 HGNC:20492 APRT gene APRT Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Adenine phosphoribosyltransferase deficiency, 614723 30847515 False 3 0;100;0 1.214 False ENSG00000198931 ENSG00000198931 HGNC:626 APTX gene APTX Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 30847515 False 3 0;100;0 1.214 False ENSG00000137074 ENSG00000137074 HGNC:15984 AR gene AR Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Androgen insensitivity, OMIM:300068;Androgen insensitivity, partial, with or without breast cancer, OMIM:312300;Hypospadias 1, X-linked, OMIM:300633;Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200 30847515 False 3 0;100;0 1.214 False ENSG00000169083 ENSG00000169083 HGNC:644 ARCN1 gene ARCN1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, 617164 30847515 False 3 0;100;0 1.214 False ENSG00000095139 ENSG00000095139 HGNC:649 ARFGEF2 gene ARFGEF2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Periventricular heterotopia with microcephaly, 608097 30847515 False 3 0;100;0 1.214 False ENSG00000124198 ENSG00000124198 HGNC:15853 ARG1 gene ARG1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Argininemia, 207800 30847515 False 3 0;100;0 1.214 False ENSG00000118520 ENSG00000118520 HGNC:663 ARHGAP31 gene ARHGAP31 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Adams-Oliver syndrome 1, 100300 30847515 False 3 0;100;0 1.214 False ENSG00000031081 ENSG00000031081 HGNC:29216 ARHGDIA gene ARHGDIA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 8, 615244 30847515 False 3 0;100;0 1.214 False ENSG00000141522 ENSG00000141522 HGNC:678 ARHGEF9 gene ARHGEF9 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Epileptic encephalopathy, early infantile, 8, 300607 30847515 False 3 0;100;0 1.214 False ENSG00000131089 ENSG00000131089 HGNC:14561 ARID1A gene ARID1A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Coffin-Siris syndrome 2, 614607 30847515 False 3 0;100;0 1.214 False ENSG00000117713 ENSG00000117713 HGNC:11110 ARID1B gene ARID1B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Coffin-Siris syndrome 1, 135900 30847515 False 3 0;100;0 1.214 False ENSG00000049618 ENSG00000049618 HGNC:18040 ARID2 gene ARID2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Coffin-Siris syndrome 6, 617808 30847515 False 3 0;100;0 1.214 False ENSG00000189079 ENSG00000189079 HGNC:18037 ARL13B gene ARL13B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 8, 612291 30847515 False 3 0;100;0 1.214 False ENSG00000169379 ENSG00000169379 HGNC:25419 ARL6 gene ARL6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 3, 600151 30847515 False 3 0;100;0 1.214 False ENSG00000113966 ENSG00000113966 HGNC:13210 ARMC4 gene ARMC4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 23, 615451 30847515 False 3 0;100;0 1.214 False ENSG00000169126 ENSG00000169126 HGNC:25583 ARMC9 gene ARMC9 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 30, 617622 30847515 False 3 0;100;0 1.214 False ENSG00000135931 ENSG00000135931 HGNC:20730 ARPC1B gene ARPC1B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, OMIM:617718 30847515 False 3 0;100;0 1.214 False ENSG00000130429 ENSG00000130429 HGNC:704 ARSA gene ARSA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Metachromatic leukodystrophy, 250100 30847515 False 3 0;100;0 1.214 False ENSG00000100299 ENSG00000100299 HGNC:713 ARSB gene ARSB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 30847515 False 3 0;100;0 1.214 False ENSG00000113273 ENSG00000113273 HGNC:714 ARSE gene ARSE Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Chondrodysplasia punctata, X-linked recessive, 302950 30847515 False 3 0;100;0 1.214 False ENSG00000157399 ENSG00000157399 HGNC:719 ARV1 gene ARV1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 38, 617020 30847515 False 3 0;100;0 1.214 False ENSG00000173409 ENSG00000173409 HGNC:29561 ARX gene ARX Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Epileptic encephalopathy, early infantile, 1, 308350;Partington syndrome, 309510;Proud syndrome, 300004;Lissencephaly, X-linked 2, 300215;Hydranencephaly with abnormal genitalia, 300215;Mental retardation, X-linked 29 and others, 300419 30847515 False 3 0;100;0 1.214 False ENSG00000004848 ENSG00000004848 HGNC:18060 ASAH1 gene ASAH1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Farber lipogranulomatosis, 228000;Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 30847515 False 3 0;100;0 1.214 False ENSG00000104763 ENSG00000104763 HGNC:735 ASCC1 gene ASCC1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Barrett esophagus/esophageal adenocarcinoma, 614266 30847515 False 3 0;100;0 1.214 False ENSG00000138303 ENSG00000138303 HGNC:24268 ASH1L gene ASH1L Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 52, 617796 30847515 False 3 0;100;0 1.214 False ENSG00000116539 ENSG00000116539 HGNC:19088 ASL gene ASL Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Argininosuccinic aciduria, 207900 30847515 False 3 0;100;0 1.214 False ENSG00000126522 ENSG00000126522 HGNC:746 ASNS gene ASNS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Asparagine synthetase deficiency, 615574 30847515 False 3 0;100;0 1.214 False ENSG00000070669 ENSG00000070669 HGNC:753 ASPA gene ASPA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Canavan disease, 271900 30847515 False 3 0;100;0 1.214 False ENSG00000108381 ENSG00000108381 HGNC:756 ASPM gene ASPM Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly 5, primary, autosomal recessive, 608716 30847515 False 3 0;100;0 1.214 False ENSG00000066279 ENSG00000066279 HGNC:19048 ASS1 gene ASS1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Citrullinemia, 215700 30847515 False 3 0;100;0 1.214 False ENSG00000130707 ENSG00000130707 HGNC:758 ASXL1 gene ASXL1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Bohring-Opitz syndrome, 605039 30847515 False 3 0;100;0 1.214 False ENSG00000171456 ENSG00000171456 HGNC:18318 ASXL2 gene ASXL2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Shashi-Pena syndrome, 617190 30847515 False 3 0;100;0 1.214 False ENSG00000143970 ENSG00000143970 HGNC:23805 ASXL3 gene ASXL3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Bainbridge-Ropers syndrome, 615485 30847515 False 3 0;100;0 1.214 False ENSG00000141431 ENSG00000141431 HGNC:29357 ATAD1 gene ATAD1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hyperekplexia 4, 618011 30847515 False 3 0;100;0 1.214 False ENSG00000138138 ENSG00000138138 HGNC:25903 ATAD3A gene ATAD3A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Harel-Yoon syndrome, 617183 30847515 False 3 0;100;0 1.214 False ENSG00000197785 ENSG00000197785 HGNC:25567 ATCAY gene ATCAY Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ataxia, cerebellar, Cayman type, 601238 30847515 False 3 0;100;0 1.214 False ENSG00000167654 ENSG00000167654 HGNC:779 ATIC gene ATIC Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal AICA-ribosiduria due to ATIC deficiency, 608688 30847515 False 3 0;100;0 1.214 False ENSG00000138363 ENSG00000138363 HGNC:794 ATL1 gene ATL1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neuropathy, hereditary sensory, type ID, 613708;Spastic paraplegia 3A, autosomal dominant, 182600 30847515 False 3 0;100;0 1.214 False ENSG00000198513 ENSG00000198513 HGNC:11231 ATM gene ATM Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ataxia-telangiectasia, 208900 30847515 False 3 0;100;0 1.214 False ENSG00000149311 ENSG00000149311 HGNC:795 ATN1 gene ATN1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, OMIM:618494;Dentatorubral-pallidoluysian atrophy, OMIM:125370 30847515 False 3 0;100;0 1.214 False ENSG00000111676 ENSG00000111676 HGNC:3033 ATP13A2 gene ATP13A2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 78, autosomal recessive, 617225;Kufor-Rakeb syndrome, 606693 30847515 False 3 0;100;0 1.214 False ENSG00000159363 ENSG00000159363 HGNC:30213 ATP1A1 gene ATP1A1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot-Marie-Tooth disease, axonal, type 2DD, 618036;Hypomagnesemia, seizures, and mental retardation 2, 618314 30847515 False 3 0;100;0 1.214 False ENSG00000163399 ENSG00000163399 HGNC:799 ATP1A2 gene ATP1A2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Alternating hemiplegia of childhood 1, 104290;Migraine, familial basilar, 602481;Migraine, familial hemiplegic, 2, 602481 30847515 False 3 0;100;0 1.214 False ENSG00000018625 ENSG00000018625 HGNC:800 ATP1A3 gene ATP1A3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Alternating hemiplegia of childhood 2, 614820;Dystonia-12, 128235;CAPOS syndrome, 601338 30847515 False 3 0;100;0 1.214 False ENSG00000105409 ENSG00000105409 HGNC:801 ATP2A1 gene ATP2A1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Brody myopathy, 601003 30847515 False 3 0;100;0 1.214 False ENSG00000196296 ENSG00000196296 HGNC:811 ATP5D gene ATP5D Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, 618120 30847515 False 3 0;100;0 1.214 False ENSG00000099624 ENSG00000099624 HGNC:837 ATP6AP1 gene ATP6AP1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency 47, 300972 30847515 False 3 0;100;0 1.214 False ENSG00000071553 ENSG00000071553 HGNC:868 ATP6AP2 gene ATP6AP2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked, syndromic, Hedera type, 300423 30847515 False 3 0;100;0 1.214 False ENSG00000182220 ENSG00000182220 HGNC:18305 ATP6V0A2 gene ATP6V0A2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIA, 219200;Wrinkly skin syndrome, 278250 30847515 False 3 0;100;0 1.214 False ENSG00000185344 ENSG00000185344 HGNC:18481 ATP6V1A gene ATP6V1A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IID, OMIM:617403;Developmental and epileptic encephalopathy 93, OMIM:618012 30847515 False 3 0;100;0 1.214 False ENSG00000114573 ENSG00000114573 HGNC:851 ATP6V1B1 gene ATP6V1B1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Renal tubular acidosis with deafness, 267300 30847515 False 3 0;100;0 1.214 False ENSG00000116039 ENSG00000116039 HGNC:853 ATP6V1B2 gene ATP6V1B2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Zimmermann-Laband syndrome 2, 616455;Deafness, congenital, with onychodystrophy, autosomal dominant, 124480 30847515 False 3 0;100;0 1.214 False ENSG00000147416 ENSG00000147416 HGNC:854 ATP7A gene ATP7A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Spinal muscular atrophy, distal, X-linked 3, 300489;Menkes disease, 309400;Occipital horn syndrome, 304150 30847515 False 3 0;100;0 1.214 False ENSG00000165240 ENSG00000165240 HGNC:869 ATP7B gene ATP7B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Wilson disease, 277900 30847515 False 3 0;100;0 1.214 False ENSG00000123191 ENSG00000123191 HGNC:870 ATP8B1 gene ATP8B1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic 1, 211600;Cholestasis, benign recurrent intrahepatic, 243300 30847515 False 3 0;100;0 1.214 False ENSG00000081923 ENSG00000081923 HGNC:3706 ATR gene ATR Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 1, 210600 30847515 False 3 0;100;0 1.214 False ENSG00000175054 ENSG00000175054 HGNC:882 ATRX gene ATRX Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Alpha-thalassemia/mental retardation syndrome, 301040;Mental retardation-hypotonic facies syndrome, X-linked, 309580 30847515 False 3 0;100;0 1.214 False ENSG00000085224 ENSG00000085224 HGNC:886 ATXN1 gene ATXN1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 1, OMIM:164400 30847515 False 3 0;50;50 1.214 False ENSG00000124788 ENSG00000124788 HGNC:10548 ATXN10 gene ATXN10 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 10, 603516 30847515 False 3 0;50;50 1.214 False ENSG00000130638 ENSG00000130638 HGNC:10549 ATXN2 gene ATXN2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 2, OMIM:183090;{Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090 30847515 False 3 0;50;50 1.214 False ENSG00000204842 ENSG00000204842 HGNC:10555 ATXN3 gene ATXN3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Machado-Joseph disease, 109150 30847515 False 3 0;50;50 1.214 False ENSG00000066427 ENSG00000066427 HGNC:7106 ATXN7 gene ATXN7 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 7, 164500 30847515 False 3 0;50;50 1.214 False ENSG00000163635 ENSG00000163635 HGNC:10560 AUH gene AUH Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type I, 250950 30847515 False 3 0;100;0 1.214 False ENSG00000148090 ENSG00000148090 HGNC:890 AUTS2 gene AUTS2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 26, 615834 30847515 False 3 0;100;0 1.214 False ENSG00000158321 ENSG00000158321 HGNC:14262 AVPR2 gene AVPR2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Nephrogenic syndrome of inappropriate antidiuresis, 300539;Diabetes insipidus, nephrogenic, 304800 30847515 False 3 0;100;0 1.214 False ENSG00000126895 ENSG00000126895 HGNC:897 B2M gene B2M Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Amyloidosis, familial visceral;Immunodeficiency 43, 241600 30847515 False 3 0;100;0 1.214 False ENSG00000166710 ENSG00000166710 HGNC:914 B3GALNT2 gene B3GALNT2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, 615181 30847515 False 3 0;100;0 1.214 False ENSG00000162885 ENSG00000162885 HGNC:28596 B3GALT6 gene B3GALT6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640;Ehlers-Danlos syndrome, spondylodysplastic type, 2, 615349 30847515 False 3 0;100;0 1.214 False ENSG00000176022 ENSG00000176022 HGNC:17978 B3GAT3 gene B3GAT3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, 245600 30847515 False 3 0;100;0 1.214 False ENSG00000149541 ENSG00000149541 HGNC:923 B3GLCT gene B3GLCT Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Peters-plus syndrome, 261540 30847515 False 3 0;100;0 1.214 False ENSG00000187676 ENSG00000187676 HGNC:20207 B4GALNT1 gene B4GALNT1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 26, autosomal recessive, 609195 30847515 False 3 0;100;0 1.214 False ENSG00000135454 ENSG00000135454 HGNC:4117 B4GALT1 gene B4GALT1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IId, 607091 30847515 False 3 0;100;0 1.214 False ENSG00000086062 ENSG00000086062 HGNC:924 B4GALT7 gene B4GALT7 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, spondylodysplastic type, 1, 130070 30847515 False 3 0;100;0 1.214 False ENSG00000027847 ENSG00000027847 HGNC:930 B4GAT1 gene B4GAT1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, 615287 30847515 False 3 0;100;0 1.214 False ENSG00000174684 ENSG00000174684 HGNC:15685 B9D2 gene B9D2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 34, OMIM:614175;Meckel syndrome 10, OMIM:614175;Meckel syndrome, type 10, MONDO:0013609 26092869;21763481;31411728 False 3 0;100;0 1.214 False ENSG00000123810 ENSG00000123810 HGNC:28636 BAAT gene BAAT Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hypercholanemia, familial, 607748 30847515 False 3 0;100;0 1.214 False ENSG00000136881 ENSG00000136881 HGNC:932 BACH2 gene BACH2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Immunodeficiency 60, 618394 30847515 False 3 0;100;0 1.214 False ENSG00000112182 ENSG00000112182 HGNC:14078 BAG3 gene BAG3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1HH, 613881;Myopathy, myofibrillar, 6, 612954 30847515 False 3 0;100;0 1.214 False ENSG00000151929 ENSG00000151929 HGNC:939 BBS1 gene BBS1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 1, 209900 30847515 False 3 0;100;0 1.214 False ENSG00000174483 ENSG00000174483 HGNC:966 BBS10 gene BBS10 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 10, 615987 30847515 False 3 0;100;0 1.214 False ENSG00000179941 ENSG00000179941 HGNC:26291 BBS12 gene BBS12 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 12, 615989 30847515 False 3 0;100;0 1.214 False ENSG00000181004 ENSG00000181004 HGNC:26648 BBS2 gene BBS2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 2, 615981;Retinitis pigmentosa 74, 616562 30847515 False 3 0;100;0 1.214 False ENSG00000125124 ENSG00000125124 HGNC:967 BBS4 gene BBS4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 4, 615982 30847515 False 3 0;100;0 1.214 False ENSG00000140463 ENSG00000140463 HGNC:969 BBS5 gene BBS5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 5, 615983 30847515 False 3 0;100;0 1.214 False ENSG00000163093 ENSG00000163093 HGNC:970 BBS7 gene BBS7 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 7, 615984 30847515 False 3 0;100;0 1.214 False ENSG00000138686 ENSG00000138686 HGNC:18758 BBS9 gene BBS9 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 9, 615986 30847515 False 3 0;100;0 1.214 False ENSG00000122507 ENSG00000122507 HGNC:30000 BCAP31 gene BCAP31 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Deafness, dystonia, and cerebral hypomyelination, 300475 30847515 False 3 0;100;0 1.214 False ENSG00000185825 ENSG00000185825 HGNC:16695 BCKDHA gene BCKDHA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Maple syrup urine disease, type Ia, 248600 30847515 False 3 0;100;0 1.214 False ENSG00000248098 ENSG00000248098 HGNC:986 BCKDHB gene BCKDHB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Maple syrup urine disease, type Ib, 248600 30847515 False 3 0;100;0 1.214 False ENSG00000083123 ENSG00000083123 HGNC:987 BCKDK gene BCKDK Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Branched-chain ketoacid dehydrogenase kinase deficiency, 614923 30847515 False 3 0;100;0 1.214 False ENSG00000103507 ENSG00000103507 HGNC:16902 BCL11A gene BCL11A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dias-Logan syndrome, 617101 30847515 False 3 0;100;0 1.214 False ENSG00000119866 ENSG00000119866 HGNC:13221 BCL11B gene BCL11B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, 618092;Immunodeficiency 49, 617237 30847515 False 3 0;100;0 1.214 False ENSG00000127152 ENSG00000127152 HGNC:13222 BCOR gene BCOR Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Microphthalmia, syndromic 2, 300166 30847515 False 3 0;100;0 1.214 False ENSG00000183337 ENSG00000183337 HGNC:20893 BCS1L gene BCS1L Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Bjornstad syndrome, 262000;GRACILE syndrome, 603358;Mitochondrial complex III deficiency, nuclear type 1, 124000;Leigh syndrome, 256000 30847515 False 3 0;100;0 1.214 False ENSG00000074582 ENSG00000074582 HGNC:1020 BEAN1 gene BEAN1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 31, 117210 30847515 False 3 0;100;0 1.214 False ENSG00000166546 ENSG00000166546 HGNC:24160 BFSP2 gene BFSP2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cataract 12, multiple types, 611597 30847515 False 3 0;100;0 1.214 False ENSG00000170819 ENSG00000170819 HGNC:1041 BGN gene BGN Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Meester-Loeys syndrome, 300989;Spondyloepimetaphyseal dysplasia, X-linked, 300106 30847515 False 3 0;100;0 1.214 False ENSG00000182492 ENSG00000182492 HGNC:1044 BHLHA9 gene BHLHA9 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Syndactyly, mesoaxial synostotic, with phalangeal reduction, 609432 30847515 False 3 0;100;0 1.214 False ENSG00000205899 ENSG00000205899 HGNC:35126 BICD2 gene BICD2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291;Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, 615290 30847515 False 3 0;100;0 1.214 False ENSG00000185963 ENSG00000185963 HGNC:17208 BIN1 gene BIN1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Centronuclear myopathy 2, 255200 30847515 False 3 0;100;0 1.214 False ENSG00000136717 ENSG00000136717 HGNC:1052 BLM gene BLM Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Bloom syndrome, 210900 30847515 False 3 0;100;0 1.214 False ENSG00000197299 ENSG00000197299 HGNC:1058 BLOC1S3 gene BLOC1S3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 8, 614077 30847515 False 3 0;100;0 1.214 False ENSG00000189114 ENSG00000189114 HGNC:20914 BLOC1S6 gene BLOC1S6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Hermansky-pudlak syndrome 9, 614171 30847515 False 3 0;100;0 1.214 False ENSG00000104164 ENSG00000104164 HGNC:8549 BMP1 gene BMP1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XIII, 614856 30847515 False 3 0;100;0 1.214 False ENSG00000168487 ENSG00000168487 HGNC:1067 BMP2 gene BMP2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877;Brachydactyly, type A2, 112600 30847515 False 3 0;100;0 1.214 False ENSG00000125845 ENSG00000125845 HGNC:1069 BMP4 gene BMP4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Microphthalmia, syndromic 6, 607932;Orofacial cleft 11, 600625 30847515 False 3 0;100;0 1.214 False ENSG00000125378 ENSG00000125378 HGNC:1071 BMPER gene BMPER Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Diaphanospondylodysostosis, 608022 30847515 False 3 0;100;0 1.214 False ENSG00000164619 ENSG00000164619 HGNC:24154 BMPR1A gene BMPR1A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Polyposis syndrome, hereditary mixed, 2, 610069;Juvenile polyposis syndrome, infantile form, 174900;Polyposis, juvenile intestinal, 174900 30847515 False 3 0;100;0 1.214 False ENSG00000107779 ENSG00000107779 HGNC:1076 BMPR1B gene BMPR1B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Acromesomelic dysplasia, Demirhan type, 609441;Brachydactyly, type A2, 112600;Brachydactyly, type A1, D, 616849 30847515 False 3 0;100;0 1.214 False ENSG00000138696 ENSG00000138696 HGNC:1077 BNC2 gene BNC2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lower urinary tract obstruction, congenital, 618612 30847515 False 3 0;100;0 1.214 False ENSG00000173068 ENSG00000173068 HGNC:30988 BOLA3 gene BOLA3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, 614299 30847515 False 3 0;100;0 1.214 False ENSG00000163170 ENSG00000163170 HGNC:24415 BPTF gene BPTF Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, 617755 30847515 False 3 0;100;0 1.214 False ENSG00000171634 ENSG00000171634 HGNC:3581 BRAF gene BRAF Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiofaciocutaneous syndrome, 115150;Noonan syndrome 7, 613706;LEOPARD syndrome 3, 613707 30847515 False 3 0;100;0 1.214 False ENSG00000157764 ENSG00000157764 HGNC:1097 BRAT1 gene BRAT1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Rigidity and multifocal seizure syndrome, lethal neonatal, 614498;Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, 618056 30847515 False 3 0;100;0 1.214 False ENSG00000106009 ENSG00000106009 HGNC:21701 BRCA1 gene BRCA1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Fanconi anemia, complementation group S, 617883 30847515 False 3 0;100;0 1.214 False ENSG00000012048 ENSG00000012048 HGNC:1100 BRCA2 gene BRCA2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group D1, 605724 30847515 False 3 0;100;0 1.214 False ENSG00000139618 ENSG00000139618 HGNC:1101 BRD4 gene BRD4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cornelia de Lange-like syndrome 30847515 False 3 0;100;0 1.214 False ENSG00000141867 ENSG00000141867 HGNC:13575 BRF1 gene BRF1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Cerebellofaciodental syndrome, 616202 30847515 False 3 0;100;0 1.214 False ENSG00000185024 ENSG00000185024 HGNC:11551 BRIP1 gene BRIP1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group J, 609054 30847515 False 3 0;100;0 1.214 False ENSG00000136492 ENSG00000136492 HGNC:20473 BRPF1 gene BRPF1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual developmental disorder with dysmorphic facies and ptosis, 617333 30847515 False 3 0;100;0 1.214 False ENSG00000156983 ENSG00000156983 HGNC:14255 BRSK2 gene BRSK2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 30847515 False 3 0;100;0 1.214 False ENSG00000174672 ENSG00000174672 HGNC:11405 BRWD3 gene BRWD3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked 93, 300659 30847515 False 3 0;100;0 1.214 False ENSG00000165288 ENSG00000165288 HGNC:17342 BSCL2 gene BSCL2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Encephalopathy, progressive, with or without lipodystrophy, 615924;Silver spastic paraplegia syndrome, 270685;Lipodystrophy, congenital generalized, type 2, 269700;Neuropathy, distal hereditary motor, type VA, 600794 30847515 False 3 0;100;0 1.214 False ENSG00000168000 ENSG00000168000 HGNC:15832 BSND gene BSND Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Sensorineural deafness with mild renal dysfunction, 602522;Bartter syndrome, type 4a, 602522 30847515 False 3 0;100;0 1.214 False ENSG00000162399 ENSG00000162399 HGNC:16512 BTD gene BTD Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Biotinidase deficiency, 253260 30847515 False 3 0;100;0 1.214 False ENSG00000169814 ENSG00000169814 HGNC:1122 BTK gene BTK Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Isolated growth hormone deficiency, type III, with agammaglobulinemia, 307200;Agammaglobulinemia, X-linked 1, 300755 30847515 False 3 0;100;0 1.214 False ENSG00000010671 ENSG00000010671 HGNC:1133 BUB1B gene BUB1B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mosaic variegated aneuploidy syndrome 1, 257300 30847515 False 3 0;100;0 1.214 False ENSG00000156970 ENSG00000156970 HGNC:1149 C11orf70 gene C11orf70 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 38, 618063 30847515 False 3 0;100;0 1.214 False ENSG00000137691 ENSG00000137691 HGNC:28188 C12orf4 gene C12orf4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 66, OMIM:618221 30847515 False 3 0;100;0 1.214 False ENSG00000047621 ENSG00000047621 HGNC:1184 C12orf57 gene C12orf57 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Temtamy syndrome, 218340 30847515 False 3 0;100;0 1.214 False ENSG00000111678 ENSG00000111678 HGNC:29521 C12orf65 gene C12orf65 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 55, autosomal recessive, 615035;Combined oxidative phosphorylation deficiency 7, 613559 30847515 False 3 0;100;0 1.214 False ENSG00000130921 ENSG00000130921 HGNC:26784 C15orf41 gene C15orf41 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Dyserythropoietic anemia, congenital, type Ib, OMIM:615631;Congenital dyserythropoietic anemia type type 1B, MONDO:0014285 30847515 False 3 0;100;0 1.214 False ENSG00000186073 ENSG00000186073 HGNC:26929 C19orf12 gene C19orf12 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Spastic paraplegia 43, autosomal recessive, 615043;Neurodegeneration with brain iron accumulation 4, 614298 30847515;21981780;29295770;31087512 False 3 0;100;0 1.214 False ENSG00000131943 ENSG00000131943 HGNC:25443 C19orf70 gene C19orf70 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 37, 618329 30847515 False 3 0;100;0 1.214 False ENSG00000174917 ENSG00000174917 HGNC:33702 C1QA gene C1QA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal C1q deficiency, 613652 30847515 False 3 0;100;0 1.214 False ENSG00000173372 ENSG00000173372 HGNC:1241 C1QB gene C1QB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal C1q deficiency, 613652 30847515 False 3 0;100;0 1.214 False ENSG00000173369 ENSG00000173369 HGNC:1242 C1QBP gene C1QBP Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 33, 617713 30847515 False 3 0;100;0 1.214 False ENSG00000108561 ENSG00000108561 HGNC:1243 C1QC gene C1QC Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal C1q deficiency, 613652 30847515 False 3 0;100;0 1.214 False ENSG00000159189 ENSG00000159189 HGNC:1245 C1R gene C1R Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ehlers-Danlos syndrome, periodontal type, 1, 130080 30847515 False 3 0;100;0 1.214 False ENSG00000159403 ENSG00000159403 HGNC:1246 C1S gene C1S Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ehlers-Danlos syndrome, periodontal type, 2, 617174;C1s deficiency, 613783 30847515 False 3 0;100;0 1.214 False ENSG00000182326 ENSG00000182326 HGNC:1247 C2 gene C2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal C2 deficiency, 217000 30847515 False 3 0;100;0 1.214 False ENSG00000166278 ENSG00000166278 HGNC:1248 C21orf2 gene C21orf2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Spondylometaphyseal dysplasia, axial, 602271;Retinal dystrophy with macular staphyloma, 617547 30847515 False 3 0;100;0 1.214 False ENSG00000160226 ENSG00000160226 HGNC:1260 C2CD3 gene C2CD3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome XIV, 615948 30847515 False 3 0;100;0 1.214 False ENSG00000168014 ENSG00000168014 HGNC:24564 C2orf71 gene C2orf71 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 54, 613428 30847515 False 3 0;100;0 1.214 False ENSG00000179270 ENSG00000179270 HGNC:34383 C3 gene C3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal C3 deficiency, 613779 30847515 False 3 0;100;0 1.214 False ENSG00000125730 ENSG00000125730 HGNC:1318 C4A gene C4A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal C4a deficiency, 614380 30847515 False 3 0;100;0 1.214 False ENSG00000244731 ENSG00000244731 HGNC:1323 C4B gene C4B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal C4B deficiency, 614379 30847515 False 3 0;100;0 1.214 False ENSG00000224389 ENSG00000224389 HGNC:1324 C4orf26 gene C4orf26 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Amelogenesis imperfecta, type IIA4, 614832 30847515 False 3 0;100;0 1.214 False ENSG00000174792 ENSG00000174792 HGNC:26300 C5 gene C5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal C5 deficiency, 609536 30847515 False 3 0;100;0 1.214 False ENSG00000106804 ENSG00000106804 HGNC:1331 C5orf42 gene C5orf42 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 17, 614615;Orofaciodigital syndrome VI, 277170 30847515 False 3 0;100;0 1.214 False ENSG00000197603 ENSG00000197603 HGNC:25801 C6 gene C6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Combined C6/C7 deficiency;C6 deficiency, 612446 30847515 False 3 0;100;0 1.214 False ENSG00000039537 ENSG00000039537 HGNC:1339 C7 gene C7 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal C7 deficiency, 610102 30847515 False 3 0;100;0 1.214 False ENSG00000112936 ENSG00000112936 HGNC:1346 C8A gene C8A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal C8 deficiency, type I, 613790 30847515 False 3 0;100;0 1.214 False ENSG00000157131 ENSG00000157131 HGNC:1352 C8B gene C8B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal C8 deficiency, type II, 613789 30847515 False 3 0;100;0 1.214 False ENSG00000021852 ENSG00000021852 HGNC:1353 C8G gene C8G Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Complement factor 8 defect 30847515 False 3 0;100;0 1.214 False ENSG00000176919 ENSG00000176919 HGNC:1354 C8orf37 gene C8orf37 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 16, 614500;Retinitis pigmentosa 64, 614500;Bardet-Biedl syndrome 21, 617406 30847515 False 3 0;100;0 1.214 False ENSG00000156172 ENSG00000156172 HGNC:27232 C9 gene C9 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal C9 deficiency, 613825 30847515 False 3 0;100;0 1.214 False ENSG00000113600 ENSG00000113600 HGNC:1358 C9orf72 gene C9orf72 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 105550 30847515 False 3 0;50;50 1.214 False ENSG00000147894 ENSG00000147894 HGNC:28337 CA2 gene CA2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 30847515 False 3 0;100;0 1.214 False ENSG00000104267 ENSG00000104267 HGNC:1373 CA5A gene CA5A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hyperammonemia due to carbonic anhydrase VA deficiency, 615751 30847515 False 3 0;100;0 1.214 False ENSG00000174990 ENSG00000174990 HGNC:1377 CA8 gene CA8 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 30847515 False 3 0;100;0 1.214 False ENSG00000178538 ENSG00000178538 HGNC:1382 CACNA1A gene CACNA1A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 42, 617106;Spinocerebellar ataxia 6, 183086;Migraine, familial hemiplegic, 1, 141500;Episodic ataxia, type 2, 108500;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 30847515 False 3 0;100;0 1.214 False ENSG00000141837 ENSG00000141837 HGNC:1388 CACNA1B gene CACNA1B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, 618497 30847515 False 3 0;100;0 1.214 False ENSG00000148408 ENSG00000148408 HGNC:1389 CACNA1C gene CACNA1C Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brugada syndrome 3, 611875;Long QT syndrome 8, 618447;Timothy syndrome, 601005 30847515 False 3 0;100;0 1.214 False ENSG00000151067 ENSG00000151067 HGNC:1390 CACNA1D gene CACNA1D Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Primary aldosteronism, seizures, and neurologic abnormalities, 615474;Sinoatrial node dysfunction and deafness, 614896 30847515 False 3 0;100;0 1.214 False ENSG00000157388 ENSG00000157388 HGNC:1391 CACNA1E gene CACNA1E Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 69, 618285 30847515 False 3 0;100;0 1.214 False ENSG00000198216 ENSG00000198216 HGNC:1392 CACNA1F gene CACNA1F Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Cone-rod dystrophy, X-linked, 3, 300476;Aland Island eye disease, 300600;Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071 30847515 False 3 0;100;0 1.214 False ENSG00000102001 ENSG00000102001 HGNC:1393 CACNA1G gene CACNA1G Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 42, 616795;Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087 30847515 False 3 0;100;0 1.214 False ENSG00000006283 ENSG00000006283 HGNC:1394 CACNA1S gene CACNA1S Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypokalemic periodic paralysis, type 1, 170400 30847515 False 3 0;100;0 1.214 False ENSG00000081248 ENSG00000081248 HGNC:1397 CACNB4 gene CACNB4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Episodic ataxia, type 5, 613855 30847515 False 3 0;100;0 1.214 False ENSG00000182389 ENSG00000182389 HGNC:1404 CAD gene CAD Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 50, 616457 30847515 False 3 0;100;0 1.214 False ENSG00000084774 ENSG00000084774 HGNC:1424 CAMK2A gene CAMK2A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 53, 617798 30847515 False 3 0;100;0 1.214 False ENSG00000070808 ENSG00000070808 HGNC:1460 CAMK2B gene CAMK2B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 54, 617799 30847515 False 3 0;100;0 1.214 False ENSG00000058404 ENSG00000058404 HGNC:1461 CAMTA1 gene CAMTA1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cerebellar ataxia, nonprogressive, with mental retardation, 614756 30847515 False 3 0;100;0 1.214 False ENSG00000171735 ENSG00000171735 HGNC:18806 CANT1 gene CANT1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Desbuquois dysplasia 1, 251450;Epiphyseal dysplasia, multiple, 7, 617719 30847515 False 3 0;100;0 1.214 False ENSG00000171302 ENSG00000171302 HGNC:19721 CAPN1 gene CAPN1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 76, autosomal recessive, 616907 30847515 False 3 0;100;0 1.214 False ENSG00000014216 ENSG00000014216 HGNC:1476 CAPN3 gene CAPN3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 1, 253600;Muscular dystrophy, limb-girdle, autosomal dominant 4, 618129 30847515 False 3 0;100;0 1.214 False ENSG00000092529 ENSG00000092529 HGNC:1480 CARD11 gene CARD11 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal B-cell expansion with NFKB and T-cell anergy, 616452;Immunodeficiency 11A, 615206;Immunodeficiency 11B with atopic dermatitis, 617638 30847515 False 3 0;100;0 1.214 False ENSG00000198286 ENSG00000198286 HGNC:16393 CARD14 gene CARD14 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pityriasis rubra pilaris, OMIM:173200;Psoriasis 2, OMIM:602723 30847515 False 3 0;100;0 1.214 False ENSG00000141527 ENSG00000141527 HGNC:16446 CARD9 gene CARD9 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Candidiasis, familial, 2, autosomal recessive, 212050 30847515 False 3 0;100;0 1.214 False ENSG00000187796 ENSG00000187796 HGNC:16391 CARMIL2 gene CARMIL2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 58, 618131 30847515 False 3 0;100;0 1.214 False ENSG00000159753 ENSG00000159753 HGNC:27089 CARS gene CARS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly Developmental Delay and Brittle Hair and Nail;Microcephaly, developmental delay, and brittle hair syndrome MIM#618891 30847515 False 3 0;100;0 1.214 False ENSG00000110619 ENSG00000110619 HGNC:1493 CARS2 gene CARS2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 27, 616672 30847515 False 3 0;100;0 1.214 False ENSG00000134905 ENSG00000134905 HGNC:25695 CASK gene CASK Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749;FG syndrome 4, 300422;Mental retardation, with or without nystagmus, 300422 30847515 False 3 0;100;0 1.214 False ENSG00000147044 ENSG00000147044 HGNC:1497 CASP10 gene CASP10 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autoimmune lymphoproliferative syndrome, type II, 603909 30847515 False 3 0;100;0 1.214 False ENSG00000003400 ENSG00000003400 HGNC:1500 CASQ1 gene CASQ1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, vacuolar, with CASQ1 aggregates, 616231 30847515 False 3 0;100;0 1.214 False ENSG00000143318 ENSG00000143318 HGNC:1512 CASQ2 gene CASQ2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 30847515 False 3 0;100;0 1.214 False ENSG00000118729 ENSG00000118729 HGNC:1513 CASR gene CASR Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperparathyroidism, neonatal, 239200;Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198;Hypocalciuric hypercalcemia, type I, 145980;Hypocalcemia, autosomal dominant, 601198 30847515 False 3 0;100;0 1.214 False ENSG00000036828 ENSG00000036828 HGNC:1514 CAT gene CAT Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Acatalasemia, 614097 30847515 False 3 0;100;0 1.214 False ENSG00000121691 ENSG00000121691 HGNC:1516 CAV3 gene CAV3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, distal, Tateyama type, 614321;Long QT syndrome 9, 611818;Creatine phosphokinase, elevated serum, 123320;Cardiomyopathy, familial hypertrophic, 192600;Rippling muscle disease 2, 606072 30847515 False 3 0;100;0 1.214 False ENSG00000182533 ENSG00000182533 HGNC:1529 CAVIN1 gene CAVIN1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Lipodystrophy, congenital generalized, type 4, 613327 30847515 False 3 0;100;0 1.214 False ENSG00000177469 ENSG00000177469 HGNC:9688 CBL gene CBL Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563 30847515 False 3 0;100;0 1.214 False ENSG00000110395 ENSG00000110395 HGNC:1541 CBS gene CBS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Thrombosis, hyperhomocysteinemic, 236200;Homocystinuria, B6-responsive and nonresponsive types, 236200 30847515 False 3 0;100;0 1.214 False ENSG00000160200 ENSG00000160200 HGNC:1550 CC2D1A gene CC2D1A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 3, 608443 30847515 False 3 0;100;0 1.214 False ENSG00000132024 ENSG00000132024 HGNC:30237 CC2D2A gene CC2D2A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 6, 612284;COACH syndrome, 216360;Joubert syndrome 9, 612285 30847515 False 3 0;100;0 1.214 False ENSG00000048342 ENSG00000048342 HGNC:29253 CCBE1 gene CCBE1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hennekam lymphangiectasia-lymphedema syndrome 1, 235510 30847515 False 3 0;100;0 1.214 False ENSG00000183287 ENSG00000183287 HGNC:29426 CCDC103 gene CCDC103 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 17, 614679 30847515 False 3 0;100;0 1.214 False ENSG00000167131 ENSG00000167131 HGNC:32700 CCDC114 gene CCDC114 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 20, 615067 30847515 False 3 0;100;0 1.214 False ENSG00000105479 ENSG00000105479 HGNC:26560 CCDC115 gene CCDC115 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIo, 616828 30847515 False 3 0;100;0 1.214 False ENSG00000136710 ENSG00000136710 HGNC:28178 CCDC22 gene CCDC22 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Ritscher-Schinzel syndrome 2, 300963 30847515 False 3 0;100;0 1.214 False ENSG00000101997 ENSG00000101997 HGNC:28909 CCDC39 gene CCDC39 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 14, 613807 30847515 False 3 0;100;0 1.214 False ENSG00000145075 ENSG00000145075 HGNC:25244 CCDC40 gene CCDC40 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 15, 613808 30847515 False 3 0;100;0 1.214 False ENSG00000141519 ENSG00000141519 HGNC:26090 CCDC47 gene CCDC47 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Trichohepatoneurodevelopmental syndrome, 618268 30847515 False 3 0;100;0 1.214 False ENSG00000108588 ENSG00000108588 HGNC:24856 CCDC65 gene CCDC65 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 27, 615504 30847515 False 3 0;100;0 1.214 False ENSG00000139537 ENSG00000139537 HGNC:29937 CCDC8 gene CCDC8 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal 3-M syndrome 3, 614205 30847515 False 3 0;100;0 1.214 False ENSG00000169515 ENSG00000169515 HGNC:25367 CCDC88C gene CCDC88C Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hydrocephalus, congenital, 1, 236600;?Spinocerebellar ataxia 40 30847515 False 3 0;100;0 1.214 False ENSG00000015133 ENSG00000015133 HGNC:19967 CCND2 gene CCND2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938 30847515 False 3 0;100;0 1.214 False ENSG00000118971 ENSG00000118971 HGNC:1583 CCNO gene CCNO Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 29, 615872 30847515 False 3 0;100;0 1.214 False ENSG00000152669 ENSG00000152669 HGNC:18576 CCT5 gene CCT5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory, with spastic paraplegia, 256840 30847515 False 3 0;100;0 1.214 False ENSG00000150753 ENSG00000150753 HGNC:1618 CD19 gene CD19 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 3, 613493 30847515 False 3 0;100;0 1.214 False ENSG00000177455 ENSG00000177455 HGNC:1633 CD247 gene CD247 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 25, 610163 30847515 False 3 0;100;0 1.214 False ENSG00000198821 ENSG00000198821 HGNC:1677 CD27 gene CD27 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Lymphoproliferative syndrome 2, 615122 30847515 False 3 0;100;0 1.214 False ENSG00000139193 ENSG00000139193 HGNC:11922 CD3D gene CD3D Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 19, 615617 30847515 False 3 0;100;0 1.214 False ENSG00000167286 ENSG00000167286 HGNC:1673 CD3E gene CD3E Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 18, SCID variant, 615615;Immunodeficiency 18, 615615 30847515 False 3 0;100;0 1.214 False ENSG00000198851 ENSG00000198851 HGNC:1674 CD3G gene CD3G Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 17, CD3 gamma deficient, 615607 30847515 False 3 0;100;0 1.214 False ENSG00000160654 ENSG00000160654 HGNC:1675 CD40 gene CD40 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency with hyper-IgM, type 3, 606843 30847515 False 3 0;100;0 1.214 False ENSG00000101017 ENSG00000101017 HGNC:11919 CD40LG gene CD40LG Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency, X-linked, with hyper-IgM, 308230 30847515 False 3 0;100;0 1.214 False ENSG00000102245 ENSG00000102245 HGNC:11935 CD55 gene CD55 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, 226300 30847515 False 3 0;100;0 1.214 False ENSG00000196352 ENSG00000196352 HGNC:2665 CD59 gene CD59 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300 30847515 False 3 0;100;0 1.214 False ENSG00000085063 ENSG00000085063 HGNC:1689 CD70 gene CD70 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Lymphoproliferative syndrome 3, 618261 30847515 False 3 0;100;0 1.214 False ENSG00000125726 ENSG00000125726 HGNC:11937 CD79A gene CD79A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Agammaglobulinemia 3, 613501 30847515 False 3 0;100;0 1.214 False ENSG00000105369 ENSG00000105369 HGNC:1698 CD79B gene CD79B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Agammaglobulinemia 6, 612692 30847515 False 3 0;100;0 1.214 False ENSG00000007312 ENSG00000007312 HGNC:1699 CD81 gene CD81 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 6, 613496 30847515 False 3 0;100;0 1.214 False ENSG00000110651 ENSG00000110651 HGNC:1701 CD8A gene CD8A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal CD8 deficiency, familial, 608957 30847515 False 3 0;100;0 1.214 False ENSG00000153563 ENSG00000153563 HGNC:1706 CDAN1 gene CDAN1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Dyserythropoietic anemia, congenital, type Ia, OMIM:224120;Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135 30847515 False 3 0;100;0 1.214 False ENSG00000140326 ENSG00000140326 HGNC:1713 CDC42 gene CDC42 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Takenouchi-Kosaki syndrome, 616737 30847515 False 3 0;100;0 1.214 False ENSG00000070831 ENSG00000070831 HGNC:1736 CDC45 gene CDC45 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 7, 617063 30847515 False 3 0;100;0 1.214 False ENSG00000093009 ENSG00000093009 HGNC:1739 CDCA7 gene CDCA7 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency-centromeric instability-facial anomalies syndrome 3, 616910 30847515 False 3 0;100;0 1.214 False ENSG00000144354 ENSG00000144354 HGNC:14628 CDH1 gene CDH1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Blepharocheilodontic syndrome 1, 119580 30847515 False 3 0;100;0 1.214 False ENSG00000039068 ENSG00000039068 HGNC:1748 CDH11 gene CDH11 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Elsahy-Waters syndrome, 211380 30847515 False 3 0;100;0 1.214 False ENSG00000140937 ENSG00000140937 HGNC:1750 CDH15 gene CDH15 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 3, 612580 30847515 False 3 0;100;0 1.214 False ENSG00000129910 ENSG00000129910 HGNC:1754 CDH23 gene CDH23 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 1D, 601067;Usher syndrome, type 1D/F digenic, 601067;Deafness, autosomal recessive 12, 601386 30847515 False 3 0;100;0 1.214 False ENSG00000107736 ENSG00000107736 HGNC:13733 CDH3 gene CDH3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280;Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 30847515 False 3 0;100;0 1.214 False ENSG00000062038 ENSG00000062038 HGNC:1762 CDK10 gene CDK10 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Al Kaissi syndrome, 617694 30847515 False 3 0;100;0 1.214 False ENSG00000185324 ENSG00000185324 HGNC:1770 CDK13 gene CDK13 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360 30847515 False 3 0;100;0 1.214 False ENSG00000065883 ENSG00000065883 HGNC:1733 CDK5RAP2 gene CDK5RAP2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly 3, primary, autosomal recessive, 604804 30847515 False 3 0;100;0 1.214 False ENSG00000136861 ENSG00000136861 HGNC:18672 CDK8 gene CDK8 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Syndromic Developmental Disorder;Intellectual developmental disorder with hypotonia and behavioral abnormalities, 618748 30847515 False 3 0;100;0 1.214 False ENSG00000132964 ENSG00000132964 HGNC:1779 CDKL5 gene CDKL5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Epileptic encephalopathy, early infantile, 2, 300672 30847515 False 3 0;100;0 1.214 False ENSG00000008086 ENSG00000008086 HGNC:11411 CDKN1C gene CDKN1C Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown IMAGE syndrome, 614732;Beckwith-Wiedemann syndrome, 130650 30847515 False 3 0;100;0 1.214 False ENSG00000129757 ENSG00000129757 HGNC:1786 CDON gene CDON Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holoprosencephaly 11, 614226 30847515 False 3 0;100;0 1.214 False ENSG00000064309 ENSG00000064309 HGNC:17104 CDSN gene CDSN Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Peeling skin syndrome 1, 270300;Hypotrichosis 2, 146520 30847515 False 3 0;100;0 1.214 False ENSG00000204539 ENSG00000204539 HGNC:1802 CDT1 gene CDT1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 4, 613804 30847515 False 3 0;100;0 1.214 False ENSG00000167513 ENSG00000167513 HGNC:24576 CDX1 gene CDX1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Anorectal malformation 30847515 False 3 0;100;0 1.214 False ENSG00000113722 ENSG00000113722 HGNC:1805 CEBPE gene CEBPE Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Specific granule deficiency, 245480 30847515 False 3 0;100;0 1.214 False ENSG00000092067 ENSG00000092067 HGNC:1836 CENPF gene CENPF Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Stromme syndrome, 243605 30847515 False 3 0;100;0 1.214 False ENSG00000117724 ENSG00000117724 HGNC:1857 CENPJ gene CENPJ Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly 6, primary, autosomal recessive, 608393;?Seckel syndrome 4, 613676 30847515 False 3 0;100;0 1.214 False ENSG00000151849 ENSG00000151849 HGNC:17272 CEP104 gene CEP104 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 25, 616781 30847515 False 3 0;100;0 1.214 False ENSG00000116198 ENSG00000116198 HGNC:24866 CEP120 gene CEP120 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 13 with or without polydactyly, 616300;Joubert syndrome 31, 617761 30847515 False 3 0;100;0 1.214 False ENSG00000168944 ENSG00000168944 HGNC:26690 CEP135 gene CEP135 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly 8, primary, autosomal recessive, 614673 30847515 False 3 0;100;0 1.214 False ENSG00000174799 ENSG00000174799 HGNC:29086 CEP152 gene CEP152 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly 9, primary, autosomal recessive, 614852;Seckel syndrome 5, 613823 30847515 False 3 0;100;0 1.214 False ENSG00000103995 ENSG00000103995 HGNC:29298 CEP164 gene CEP164 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 15, 614845 30847515 False 3 0;100;0 1.214 False ENSG00000110274 ENSG00000110274 HGNC:29182 CEP290 gene CEP290 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 10, 611755;Senior-Loken syndrome 6, 610189;?Bardet-Biedl syndrome 14, 615991;Joubert syndrome 5, 610188;Meckel syndrome 4, 611134 30847515 False 3 0;100;0 1.214 False ENSG00000198707 ENSG00000198707 HGNC:29021 CEP41 gene CEP41 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 15, 614464 30847515 False 3 0;100;0 1.214 False ENSG00000106477 ENSG00000106477 HGNC:12370 CEP57 gene CEP57 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mosaic variegated aneuploidy syndrome 2, 614114 30847515 False 3 0;100;0 1.214 False ENSG00000166037 ENSG00000166037 HGNC:30794 CEP63 gene CEP63 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Seckel syndrome 6, 614728 30847515 False 3 0;100;0 1.214 False ENSG00000182923 ENSG00000182923 HGNC:25815 CEP83 gene CEP83 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 18, 615862 30847515 False 3 0;100;0 1.214 False ENSG00000173588 ENSG00000173588 HGNC:17966 CFC1 gene CFC1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Heterotaxy, visceral, 2, autosomal, 605376 30847515 False 3 0;100;0 1.214 False ENSG00000136698 ENSG00000136698 HGNC:18292 CFD gene CFD Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Complement factor D deficiency, 613912 30847515 False 3 0;100;0 1.214 False ENSG00000197766 ENSG00000197766 HGNC:2771 CFH gene CFH Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Basal laminar drusen, 126700;Complement factor H deficiency, 609814 30847515 False 3 0;100;0 1.214 False ENSG00000000971 ENSG00000000971 HGNC:4883 CFHR5 gene CFHR5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Nephropathy due to CFHR5 deficiency, 614809 30847515 False 3 0;100;0 1.214 False ENSG00000134389 ENSG00000134389 HGNC:24668 CFI gene CFI Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Complement factor I deficiency, 610984 30847515 False 3 0;100;0 1.214 False ENSG00000205403 ENSG00000205403 HGNC:5394 CFL2 gene CFL2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 7, autosomal recessive, 610687 30847515 False 3 0;100;0 1.214 False ENSG00000165410 ENSG00000165410 HGNC:1875 CFP gene CFP Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Properdin deficiency, X-linked, 312060 30847515 False 3 0;100;0 1.214 False ENSG00000126759 ENSG00000126759 HGNC:8864 CFTR gene CFTR Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital bilateral absence of vas deferens, 277180;Sweat chloride elevation without CF 30847515 False 3 0;100;0 1.214 False ENSG00000001626 ENSG00000001626 HGNC:1884 CHAMP1 gene CHAMP1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 40, 616579 30847515 False 3 0;100;0 1.214 False ENSG00000198824 ENSG00000198824 HGNC:20311 CHAT gene CHAT Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 6, presynaptic, 254210 30847515 False 3 0;100;0 1.214 False ENSG00000070748 ENSG00000070748 HGNC:1912 CHCHD10 gene CHCHD10 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Myopathy, isolated mitochondrial, autosomal dominant, 616209;Spinal muscular atrophy, Jokela type, 615048;Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911 30847515 False 3 0;100;0 1.214 False ENSG00000250479 ENSG00000250479 HGNC:15559 CHD2 gene CHD2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, childhood-onset, 615369 30847515 False 3 0;100;0 1.214 False ENSG00000173575 ENSG00000173575 HGNC:1917 CHD3 gene CHD3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Snijders Blok-Campeau syndrome, 618205 30847515 False 3 0;100;0 1.214 False ENSG00000170004 ENSG00000170004 HGNC:1918 CHD4 gene CHD4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Sifrim-Hitz-Weiss syndrome, 617159 30847515 False 3 0;100;0 1.214 False ENSG00000111642 ENSG00000111642 HGNC:1919 CHD7 gene CHD7 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypogonadotropic hypogonadism 5 with or without anosmia, 612370;CHARGE syndrome, 214800 30847515 False 3 0;100;0 1.214 False ENSG00000171316 ENSG00000171316 HGNC:20626 CHD8 gene CHD8 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown autism susceptibility;Overgrowth with Intellectual disability 30847515 False 3 0;100;0 1.214 False ENSG00000100888 ENSG00000100888 HGNC:20153 CHKB gene CHKB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, megaconial type, 602541 30847515 False 3 0;100;0 1.214 False ENSG00000100288 ENSG00000100288 HGNC:1938 CHM gene CHM Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Choroideremia, 303100 30847515 False 3 0;100;0 1.214 False ENSG00000188419 ENSG00000188419 HGNC:1940 CHMP1A gene CHMP1A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 8, 614961 30847515 False 3 0;100;0 1.214 False ENSG00000131165 ENSG00000131165 HGNC:8740 CHMP2B gene CHMP2B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dementia, familial, nonspecific, 600795;Amyotrophic lateral sclerosis 17, 614696 30847515 False 3 0;100;0 1.214 False ENSG00000083937 ENSG00000083937 HGNC:24537 CHRDL1 gene CHRDL1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Megalocornea 1, X-linked, 309300 30847515 False 3 0;100;0 1.214 False ENSG00000101938 ENSG00000101938 HGNC:29861 CHRNA1 gene CHRNA1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Multiple pterygium syndrome, lethal type, 253290;Myasthenic syndrome, congenital, 1B, fast-channel, 608930;Myasthenic syndrome, congenital, 1A, slow-channel, 601462 30847515 False 3 0;100;0 1.214 False ENSG00000138435 ENSG00000138435 HGNC:1955 CHRNA2 gene CHRNA2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy, nocturnal frontal lobe, type 4, 610353 30847515 False 3 0;100;0 1.214 False ENSG00000120903 ENSG00000120903 HGNC:1956 CHRNA4 gene CHRNA4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy, nocturnal frontal lobe, 1, 600513 30847515 False 3 0;100;0 1.214 False ENSG00000101204 ENSG00000101204 HGNC:1958 CHRNB1 gene CHRNB1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 2A, slow-channel, 616313;?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314 30847515 False 3 0;100;0 1.214 False ENSG00000170175 ENSG00000170175 HGNC:1961 CHRNB2 gene CHRNB2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy, nocturnal frontal lobe, 3, 605375 30847515 False 3 0;100;0 1.214 False ENSG00000160716 ENSG00000160716 HGNC:1962 CHRND gene CHRND Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321;?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323;Multiple pterygium syndrome, lethal type, 253290;Myasthenic syndrome, congenital, 3B, fast-channel, 616322 30847515 False 3 0;100;0 1.214 False ENSG00000135902 ENSG00000135902 HGNC:1965 CHRNE gene CHRNE Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 4B, fast-channel, 616324;Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931;Myasthenic syndrome, congenital, 4A, slow-channel, 605809 30847515 False 3 0;100;0 1.214 False ENSG00000108556 ENSG00000108556 HGNC:1966 CHRNG gene CHRNG Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Multiple pterygium syndrome, lethal type, 253290;Escobar syndrome, 265000 30847515 False 3 0;100;0 1.214 False ENSG00000196811 ENSG00000196811 HGNC:1967 CHST14 gene CHST14 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, musculocontractural type 1, 601776 30847515 False 3 0;100;0 1.214 False ENSG00000169105 ENSG00000169105 HGNC:24464 CHST3 gene CHST3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 30847515 False 3 0;100;0 1.214 False ENSG00000122863 ENSG00000122863 HGNC:1971 CHST6 gene CHST6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Macular corneal dystrophy, 217800 30847515 False 3 0;100;0 1.214 False ENSG00000183196 ENSG00000183196 HGNC:6938 CHSY1 gene CHSY1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Temtamy preaxial brachydactyly syndrome, 605282 30847515 False 3 0;100;0 1.214 False ENSG00000131873 ENSG00000131873 HGNC:17198 CHUK gene CHUK Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Cocoon syndrome, 613630 30847515 False 3 0;100;0 1.214 False ENSG00000213341 ENSG00000213341 HGNC:1974 CIB2 gene CIB2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type IJ, 614869;Deafness, autosomal recessive 48, 609439 30847515 False 3 0;100;0 1.214 False ENSG00000136425 ENSG00000136425 HGNC:24579 CIC gene CIC Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 45, 617600 30847515 False 3 0;100;0 1.214 False ENSG00000079432 ENSG00000079432 HGNC:14214 CIITA gene CIITA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Bare lymphocyte syndrome, type II, complementation group A, 209920 30847515 False 3 0;100;0 1.214 False ENSG00000179583 ENSG00000179583 HGNC:7067 CISD2 gene CISD2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Wolfram syndrome 2, 604928 30847515 False 3 0;100;0 1.214 False ENSG00000145354 ENSG00000145354 HGNC:24212 CIT gene CIT Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly 17, primary, autosomal recessive, 617090 30847515 False 3 0;100;0 1.214 False ENSG00000122966 ENSG00000122966 HGNC:1985 CKAP2L gene CKAP2L Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Filippi syndrome, 272440 30847515 False 3 0;100;0 1.214 False ENSG00000169607 ENSG00000169607 HGNC:26877 CLCN2 gene CLCN2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Leukoencephalopathy with ataxia, 615651;Hyperaldosteronism, familial, type II, 605635;{Epilepsy, juvenile absence, susceptibility to, 2}, 607628;{Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628;{Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 30847515 False 3 0;100;0 1.214 False ENSG00000114859 ENSG00000114859 HGNC:2020 CLCN4 gene CLCN4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Raynaud-Claes syndrome, 300114 30847515 False 3 0;100;0 1.214 False ENSG00000073464 ENSG00000073464 HGNC:2022 CLCN5 gene CLCN5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Nephrolithiasis, type I, 310468;Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990;Hypophosphatemic rickets, 300554;Dent disease, 300009 30847515 False 3 0;100;0 1.214 False ENSG00000171365 ENSG00000171365 HGNC:2023 CLCN7 gene CLCN7 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Osteopetrosis, autosomal dominant 2, 166600;Hypopigmentation, organomegaly, and delayed myelination and development, 618541;Osteopetrosis, autosomal recessive 4, 611490 30847515 False 3 0;100;0 1.214 False ENSG00000103249 ENSG00000103249 HGNC:2025 CLDN1 gene CLDN1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626 30847515 False 3 0;100;0 1.214 False ENSG00000163347 ENSG00000163347 HGNC:2032 CLDN14 gene CLDN14 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 29, 614035 30847515 False 3 0;100;0 1.214 False ENSG00000159261 ENSG00000159261 HGNC:2035 CLDN16 gene CLDN16 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hypomagnesemia 3, renal, 248250 30847515 False 3 0;100;0 1.214 False ENSG00000113946 ENSG00000113946 HGNC:2037 CLDN19 gene CLDN19 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hypomagnesemia 5, renal, with ocular involvement, 248190 30847515 False 3 0;100;0 1.214 False ENSG00000164007 ENSG00000164007 HGNC:2040 CLN3 gene CLN3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 3, 204200 30847515 False 3 0;100;0 1.214 False ENSG00000188603 ENSG00000188603 HGNC:2074 CLN5 gene CLN5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 5 OMIM:256731;neuronal ceroid lipofuscinosis 5 MONDO:0009745 30847515 False 3 0;100;0 1.214 False ENSG00000102805 ENSG00000102805 HGNC:2076 CLN6 gene CLN6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300;Ceroid lipofuscinosis, neuronal, 6, 601780 30847515 False 3 0;100;0 1.214 False ENSG00000128973 ENSG00000128973 HGNC:2077 CLN8 gene CLN8 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003;Ceroid lipofuscinosis, neuronal, 8, 600143 30847515 False 3 0;100;0 1.214 False ENSG00000182372 ENSG00000182372 HGNC:2079 CLP1 gene CLP1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia 10 OMIM:615803;Pontocerebellar hypoplasia type 10 MONDO:0014349 24766810;24766809;29307788;30847515 False 3 50;50;0 1.214 False ENSG00000172409 ENSG00000172409 HGNC:16999 CLPB gene CLPB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, OMIM:616271 30847515 False 3 0;100;0 1.214 False ENSG00000162129 ENSG00000162129 HGNC:30664 CLPP gene CLPP Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 3, 614129 30847515 False 3 0;100;0 1.214 False ENSG00000125656 ENSG00000125656 HGNC:2084 CLRN1 gene CLRN1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Usher syndrome, type 3A, 276902;Retinitis pigmentosa 61, 614180 30847515 False 3 0;100;0 1.214 False ENSG00000163646 ENSG00000163646 HGNC:12605 CLTC gene CLTC Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 56, 617854 30847515 False 3 0;100;0 1.214 False ENSG00000141367 ENSG00000141367 HGNC:2092 CNBP gene CNBP Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myotonic dystrophy 2, OMIM:602668;Myotonic dystrophy type 2, MONDO:0011266 30847515 False 3 0;100;0 1.214 False ENSG00000169714 ENSG00000169714 HGNC:13164 CNGB3 gene CNGB3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Achromatopsia 3, 262300;Macular degeneration, juvenile, 248200 30847515 False 3 0;100;0 1.214 False ENSG00000170289 ENSG00000170289 HGNC:2153 CNKSR2 gene CNKSR2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mental retardation, X-linked, syndromic, Houge type, 301008 30847515 False 3 0;100;0 1.214 False ENSG00000149970 ENSG00000149970 HGNC:19701 CNNM2 gene CNNM2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypomagnesemia, seizures, and mental retardation, 616418;Hypomagnesemia 6, renal, 613882 30847515 False 3 0;100;0 1.214 False ENSG00000148842 ENSG00000148842 HGNC:103 CNOT1 gene CNOT1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holoprosencephaly 12, with or without pancreatic agenesis, 618500 30847515 False 3 0;100;0 1.214 False ENSG00000125107 ENSG00000125107 HGNC:7877 CNOT3 gene CNOT3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CNOT3 syndrome 30847515 False 3 0;100;0 1.214 False ENSG00000088038 ENSG00000088038 HGNC:7879 CNPY3 gene CNPY3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 60, 617929 30847515 False 3 0;100;0 1.214 False ENSG00000137161 ENSG00000137161 HGNC:11968 CNTNAP1 gene CNTNAP1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Lethal congenital contracture syndrome 7, 616286;Hypomyelinating neuropathy, congenital, 3, 618186 30847515 False 3 0;100;0 1.214 False ENSG00000108797 ENSG00000108797 HGNC:8011 CNTNAP2 gene CNTNAP2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia-focal epilepsy syndrome, 610042;Pitt-Hopkins like syndrome 1, 610042;{Autism susceptibility 15}, 612100 30847515 False 3 50;50;0 1.214 False ENSG00000174469 ENSG00000174469 HGNC:13830 COA6 gene COA6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4, 616501 30847515 False 3 0;100;0 1.214 False ENSG00000168275 ENSG00000168275 HGNC:18025 COA7 gene COA7 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387;spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770 30847515 False 3 0;100;0 1.214 False ENSG00000162377 ENSG00000162377 HGNC:25716 COASY gene COASY Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with brain iron accumulation 6, 615643;Pontocerebellar hypoplasia, type 12, 618266 30847515;11980892;25778941;24360804;27021474;28489334;30089828;36495139 False 3 0;100;0 1.214 False ENSG00000068120 ENSG00000068120 HGNC:29932 COCH gene COCH Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Deafness 30847515 False 3 0;100;0 1.214 False ENSG00000100473 ENSG00000100473 HGNC:2180 COG1 gene COG1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIg, 611209 30847515 False 3 0;100;0 1.214 False ENSG00000166685 ENSG00000166685 HGNC:6545 COG4 gene COG4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIj, 613489;Saul-Wilson syndrome, 618150 30847515 False 3 0;100;0 1.214 False ENSG00000103051 ENSG00000103051 HGNC:18620 COG5 gene COG5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIi, 613612 30847515 False 3 0;100;0 1.214 False ENSG00000164597 ENSG00000164597 HGNC:14857 COG6 gene COG6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Shaheen syndrome, 615328;Congenital disorder of glycosylation, type IIl, 614576 30847515 False 3 0;100;0 1.214 False ENSG00000133103 ENSG00000133103 HGNC:18621 COG7 gene COG7 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIe, 608779 30847515 False 3 0;100;0 1.214 False ENSG00000168434 ENSG00000168434 HGNC:18622 COG8 gene COG8 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIh, 611182 30847515 False 3 0;100;0 1.214 False ENSG00000213380 ENSG00000213380 HGNC:18623 COL10A1 gene COL10A1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Metaphyseal chondrodysplasia, Schmid type, 156500 30847515 False 3 0;100;0 1.214 False ENSG00000123500 ENSG00000123500 HGNC:2185 COL11A1 gene COL11A1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Fibrochondrogenesis 1, 228520;?Deafness, autosomal dominant 37, 618533;Stickler syndrome, type II, 604841;Marshall syndrome, 154780 30847515 False 3 0;100;0 1.214 False ENSG00000060718 ENSG00000060718 HGNC:2186 COL11A2 gene COL11A2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Fibrochondrogenesis 2, 614524;Deafness, autosomal dominant 13, 601868;Otospondylomegaepiphyseal dysplasia, autosomal dominant, 184840;Deafness, autosomal recessive 53, 609706;Otospondylomegaepiphyseal dysplasia, autosomal recessive, 215150 30847515 False 3 0;100;0 1.214 False ENSG00000204248 ENSG00000204248 HGNC:2187 COL12A1 gene COL12A1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Ullrich congenital muscular dystrophy 2, 616470;Bethlem myopathy 2, 616471 30847515 False 3 0;100;0 1.214 False ENSG00000111799 ENSG00000111799 HGNC:2188 COL13A1 gene COL13A1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 19, 616720 30847515 False 3 0;100;0 1.214 False ENSG00000197467 ENSG00000197467 HGNC:2190 COL17A1 gene COL17A1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epidermolysis bullosa, junctional, localisata variant, 226650;Epithelial recurrent erosion dystrophy, 122400;Epidermolysis bullosa, junctional, non-Herlitz type, 226650 30847515 False 3 0;100;0 1.214 False ENSG00000065618 ENSG00000065618 HGNC:2194 COL18A1 gene COL18A1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Knobloch syndrome, type 1, 267750 30847515 False 3 0;100;0 1.214 False ENSG00000182871 ENSG00000182871 HGNC:2195 COL1A1 gene COL1A1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ehlers-Danlos syndrome, arthrochalasia type, 1, 130060;Osteogenesis imperfecta, type I, 166200;Osteogenesis imperfecta, type III, 259420;Caffey disease, 114000;Osteogenesis imperfecta, type II, 166210;Osteogenesis imperfecta, type IV, 166220 30847515 False 3 0;100;0 1.214 False ENSG00000108821 ENSG00000108821 HGNC:2197 COL1A2 gene COL1A2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Osteogenesis imperfecta, type III, 259420;Ehlers-Danlos syndrome, cardiac valvular type, 225320;Osteogenesis imperfecta, type II, 166210;Ehlers-Danlos syndrome, arthrochalasia type, 2, 617821;Osteogenesis imperfecta, type IV, 166220 30847515 False 3 0;100;0 1.214 False ENSG00000164692 ENSG00000164692 HGNC:2198 COL2A1 gene COL2A1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Achondrogenesis, type II or hypochondrogenesis, 200610;Spondyloperipheral dysplasia, 271700;SMED Strudwick type, 184250;Stickler sydrome, type I, nonsyndromic ocular, 609508;Vitreoretinopathy with phalangeal epiphyseal dysplasia;Kniest dysplasia, 156550;SED congenita, 183900;Czech dysplasia, 609162;Platyspondylic skeletal dysplasia, Torrance type, 151210;Epiphyseal dysplasia, multiple, with myopia and deafness, 132450;Spondyloepiphyseal dysplasia, Stanescu type, 616583;Osteoarthritis with mild chondrodysplasia, 604864;Legg-Calve-Perthes disease, 150600;Stickler syndrome, type I, 108300;Avascular necrosis of the femoral head, 608805 30847515 False 3 0;100;0 1.214 False ENSG00000139219 ENSG00000139219 HGNC:2200 COL3A1 gene COL3A1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Polymicrogyria with or without vascular-type EDS, 618343;Ehlers-Danlos syndrome, vascular type, 130050 30847515 False 3 0;100;0 1.214 False ENSG00000168542 ENSG00000168542 HGNC:2201 COL4A1 gene COL4A1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773;Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, 618564;Brain small vessel disease with or without ocular anomalies, 175780;?Retinal arteries, tortuosity of, 180000 30847515 False 3 0;100;0 1.214 False ENSG00000187498 ENSG00000187498 HGNC:2202 COL4A2 gene COL4A2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brain small vessel disease 2, 614483 30847515 False 3 0;100;0 1.214 False ENSG00000134871 ENSG00000134871 HGNC:2203 COL4A3 gene COL4A3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Alport syndrome 2, autosomal recessive, 203780;Alport syndrome 3, autosomal dominant, 104200;Hematuria, benign familial, 141200 30847515 False 3 0;100;0 1.214 False ENSG00000169031 ENSG00000169031 HGNC:2204 COL4A3BP gene COL4A3BP Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 34, 616351 30847515 False 3 0;100;0 1.214 False ENSG00000113163 ENSG00000113163 HGNC:2205 COL4A4 gene COL4A4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hematuria, familial benign, 141200;Alport syndrome 2, autosomal recessive, 203780 30847515 False 3 0;100;0 1.214 False ENSG00000081052 ENSG00000081052 HGNC:2206 COL4A5 gene COL4A5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Alport syndrome 1, X-linked, 301050 30847515 False 3 0;100;0 1.214 False ENSG00000188153 ENSG00000188153 HGNC:2207 COL5A1 gene COL5A1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ehlers-Danlos syndrome, classic type, 1, 130000 30847515 False 3 0;100;0 1.214 False ENSG00000130635 ENSG00000130635 HGNC:2209 COL5A2 gene COL5A2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ehlers-Danlos syndrome, classic type, 2, 130010 30847515 False 3 0;100;0 1.214 False ENSG00000204262 ENSG00000204262 HGNC:2210 COL6A1 gene COL6A1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bethlem myopathy 1, 158810;Ullrich congenital muscular dystrophy 1, 254090 30847515 False 3 0;100;0 1.214 False ENSG00000142156 ENSG00000142156 HGNC:2211 COL6A2 gene COL6A2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bethlem myopathy 1, 158810;?Myosclerosis, congenital, 255600;Ullrich congenital muscular dystrophy 1, 254090 30847515 False 3 0;100;0 1.214 False ENSG00000142173 ENSG00000142173 HGNC:2212 COL6A3 gene COL6A3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bethlem myopathy 1, 158810;Ullrich congenital muscular dystrophy 1, 254090;Dystonia 27, 616411 30847515 False 3 0;100;0 1.214 False ENSG00000163359 ENSG00000163359 HGNC:2213 COL7A1 gene COL7A1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epidermolysis bullosa dystrophica, AD, 131750;EBD inversa, 226600;EBD, localisata variant;Epidermolysis bullosa pruriginosa, 604129;Toenail dystrophy, isolated, 607523;Epidermolysis bullosa dystrophica, AR, 226600;Epidermolysis bullosa, pretibial, 131850;Transient bullous of the newborn, 131705;EBD, Bart type, 132000 30847515 False 3 0;100;0 1.214 False ENSG00000114270 ENSG00000114270 HGNC:2214 COL9A1 gene COL9A1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Stickler syndrome, type IV, 614134;?Epiphyseal dysplasia, multiple, 6, 614135 30847515 False 3 0;100;0 1.214 False ENSG00000112280 ENSG00000112280 HGNC:2217 COL9A2 gene COL9A2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Stickler syndrome, type V, 614284;Epiphyseal dysplasia, multiple, 2, 600204 30847515 False 3 0;100;0 1.214 False ENSG00000049089 ENSG00000049089 HGNC:2218 COL9A3 gene COL9A3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epiphyseal dysplasia, multiple, 3, with or without myopathy, 600969 30847515 False 3 0;100;0 1.214 False ENSG00000092758 ENSG00000092758 HGNC:2219 COLEC10 gene COLEC10 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal 3MC syndrome 3, 248340 30847515 False 3 0;100;0 1.214 False ENSG00000184374 ENSG00000184374 HGNC:2220 COLEC11 gene COLEC11 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal 3MC syndrome 2, 265050 30847515 False 3 0;100;0 1.214 False ENSG00000118004 ENSG00000118004 HGNC:17213 COLQ gene COLQ Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 5, 603034 30847515 False 3 0;100;0 1.214 False ENSG00000206561 ENSG00000206561 HGNC:2226 COMP gene COMP Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pseudoachondroplasia, 177170;Epiphyseal dysplasia, multiple, 1, 132400 30847515 False 3 0;100;0 1.214 False ENSG00000105664 ENSG00000105664 HGNC:2227 COPA gene COPA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Autoimmune interstitial lung, joint, and kidney disease}, 616414 30847515 False 3 0;100;0 1.214 False ENSG00000122218 ENSG00000122218 HGNC:2230 COQ2 gene COQ2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 1, 607426 30847515 False 3 0;100;0 1.214 False ENSG00000173085 ENSG00000173085 HGNC:25223 COQ4 gene COQ4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 7, 616276 30847515 False 3 0;100;0 1.214 False ENSG00000167113 ENSG00000167113 HGNC:19693 COQ6 gene COQ6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 6, 614650 30847515 False 3 0;100;0 1.214 False ENSG00000119723 ENSG00000119723 HGNC:20233 COQ8A gene COQ8A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 4, 612016 30847515 False 3 0;100;0 1.214 False ENSG00000163050 ENSG00000163050 HGNC:16812 COQ8B gene COQ8B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 9, 615573 30847515 False 3 0;100;0 1.214 False ENSG00000123815 ENSG00000123815 HGNC:19041 COQ9 gene COQ9 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 5, 614654 30847515 False 3 0;100;0 1.214 False ENSG00000088682 ENSG00000088682 HGNC:25302 CORO1A gene CORO1A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 8, 615401 30847515 False 3 0;100;0 1.214 False ENSG00000102879 ENSG00000102879 HGNC:2252 COX10 gene COX10 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Leigh syndrome due to mitochondrial COX4 deficiency, 256000;Mitochondrial complex IV deficiency, 220110 30847515 False 3 0;100;0 1.214 False ENSG00000006695 ENSG00000006695 HGNC:2260 COX15 gene COX15 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119;Leigh syndrome due to cytochrome c oxidase deficiency, 256000 30847515 False 3 0;100;0 1.214 False ENSG00000014919 ENSG00000014919 HGNC:2263 COX20 gene COX20 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, 220110 30847515 False 3 0;100;0 1.214 False ENSG00000203667 ENSG00000203667 HGNC:26970 COX6A1 gene COX6A1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, recessive intermediate D, 616039 30847515 False 3 0;100;0 1.214 False ENSG00000111775 ENSG00000111775 HGNC:2277 COX6B1 gene COX6B1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 7, OMIM:619051 18499082;24781756 False 3 0;100;0 1.214 False ENSG00000126267 ENSG00000126267 HGNC:2280 COX7B gene COX7B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Linear skin defects with multiple congenital anomalies 2, 300887 30847515 False 3 0;100;0 1.214 False ENSG00000131174 ENSG00000131174 HGNC:2291 CP gene CP Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hemosiderosis, systemic, due to aceruloplasminemia, 604290;Cerebellar ataxia, 604290 30847515 False 3 0;100;0 1.214 False ENSG00000047457 ENSG00000047457 HGNC:2295 CPOX gene CPOX Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Harderoporphyria, 121300;Coproporphyria, 121300 30847515 False 3 50;50;0 1.214 False ENSG00000080819 ENSG00000080819 HGNC:2321 CPS1 gene CPS1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Carbamoylphosphate synthetase I deficiency, 237300 30847515 False 3 0;100;0 1.214 False ENSG00000021826 ENSG00000021826 HGNC:2323 CPT1A gene CPT1A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal CPT deficiency, hepatic, type IA, 255120 30847515 False 3 0;100;0 1.214 False ENSG00000110090 ENSG00000110090 HGNC:2328 CPT2 gene CPT2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal CPT II deficiency, myopathic, stress-induced, 255110;CPT II deficiency, infantile, 600649;CPT II deficiency, lethal neonatal, 608836 30847515 False 3 0;100;0 1.214 False ENSG00000157184 ENSG00000157184 HGNC:2330 CR2 gene CR2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 7, 614699 30847515 False 3 0;100;0 1.214 False ENSG00000117322 ENSG00000117322 HGNC:2336 CRADD gene CRADD Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 34, with variant lissencephaly, 614499 30847515 False 3 0;100;0 1.214 False ENSG00000169372 ENSG00000169372 HGNC:2340 CRB1 gene CRB1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Leber congenital amaurosis 8, 613835;Pigmented paravenous chorioretinal atrophy, 172870;Retinitis pigmentosa-12, 600105 30847515 False 3 0;100;0 1.214 False ENSG00000134376 ENSG00000134376 HGNC:2343 CRB2 gene CRB2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Focal segmental glomerulosclerosis 9, 616220;Ventriculomegaly with cystic kidney disease, 219730 30847515 False 3 0;100;0 1.214 False ENSG00000148204 ENSG00000148204 HGNC:18688 CREBBP gene CREBBP Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Rubinstein-Taybi syndrome 1, 180849;Menke-Hennekam syndrome 1, 618332 30847515 False 3 0;100;0 1.214 False ENSG00000005339 ENSG00000005339 HGNC:2348 CRIPT gene CRIPT Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Short stature with microcephaly and distinctive facies, 615789 30847515 False 3 0;100;0 1.214 False ENSG00000119878 ENSG00000119878 HGNC:14312 CRLF1 gene CRLF1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Cold-induced sweating syndrome 1, 272430 30847515 False 3 0;100;0 1.214 False ENSG00000006016 ENSG00000006016 HGNC:2364 CRTAP gene CRTAP Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type VII, 610682 30847515 False 3 0;100;0 1.214 False ENSG00000170275 ENSG00000170275 HGNC:2379 CRX gene CRX Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cone-rod retinal dystrophy-2, 120970;Leber congenital amaurosis 7, 613829 30847515 False 3 0;100;0 1.214 False ENSG00000105392 ENSG00000105392 HGNC:2383 CRYAA gene CRYAA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cataract 9, multiple types, 604219 30847515 False 3 0;100;0 1.214 False ENSG00000160202 ENSG00000160202 HGNC:2388 CRYAB gene CRYAB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cataract 16, multiple types, 613763;Myopathy, myofibrillar, 2, 608810;Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, 613869;Cardiomyopathy, dilated, 1II, 615184 30847515 False 3 0;100;0 1.214 False ENSG00000109846 ENSG00000109846 HGNC:2389 CRYBA1 gene CRYBA1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cataract 10, multiple types, 600881 30847515 False 3 0;100;0 1.214 False ENSG00000108255 ENSG00000108255 HGNC:2394 CRYBA4 gene CRYBA4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cataract 23, 610425 30847515 False 3 0;100;0 1.214 False ENSG00000196431 ENSG00000196431 HGNC:2396 CRYBB1 gene CRYBB1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cataract 17, multiple types, 611544 30847515 False 3 0;100;0 1.214 False ENSG00000100122 ENSG00000100122 HGNC:2397 CRYBB2 gene CRYBB2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cataract 3, multiple types, 601547 30847515 False 3 0;100;0 1.214 False ENSG00000244752 ENSG00000244752 HGNC:2398 CRYBB3 gene CRYBB3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cataract 22, 609741 30847515 False 3 0;100;0 1.214 False ENSG00000100053 ENSG00000100053 HGNC:2400 CRYGC gene CRYGC Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cataract 2, multiple types, 604307 30847515 False 3 0;100;0 1.214 False ENSG00000163254 ENSG00000163254 HGNC:2410 CRYGD gene CRYGD Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cataract 4, multiple types, 115700 30847515 False 3 0;100;0 1.214 False ENSG00000118231 ENSG00000118231 HGNC:2411 CSF1R gene CSF1R Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, diffuse hereditary, with spheroids, 221820;Brain abnormalities, neurodegeneration, and dysosteosclerosis, 618476 30847515 False 3 50;50;0 1.214 False ENSG00000182578 ENSG00000182578 HGNC:2433 CSF2RA gene CSF2RA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Surfactant metabolism dysfunction, pulmonary, 4, 300770 30847515 False 3 0;100;0 1.214 False ENSG00000198223 ENSG00000198223 HGNC:2435 CSF2RB gene CSF2RB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Surfactant metabolism dysfunction, pulmonary, 5, 614370 30847515 False 3 0;100;0 1.214 False ENSG00000100368 ENSG00000100368 HGNC:2436 CSF3R gene CSF3R Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Neutropenia, severe congenital, 7, autosomal recessive, 617014 30847515 False 3 0;100;0 1.214 False ENSG00000119535 ENSG00000119535 HGNC:2439 CSNK2A1 gene CSNK2A1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Okur-Chung neurodevelopmental syndrome, 617062 30847515 False 3 0;100;0 1.214 False ENSG00000101266 ENSG00000101266 HGNC:2457 CSNK2B gene CSNK2B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Poirier-Bienvenu neurodevelopmental syndrome, OMIM:618732;Poirier-Bienvenu neurodevelopmental syndrome, MONDO:0032889 30847515;28762608;28585349;27094248;30655572 False 3 0;100;0 1.214 False ENSG00000204435 ENSG00000204435 HGNC:2460 CSPP1 gene CSPP1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 21, 615636 30847515 False 3 0;100;0 1.214 False ENSG00000104218 ENSG00000104218 HGNC:26193 CSTB gene CSTB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 30847515 False 3 0;100;0 1.214 False ENSG00000160213 ENSG00000160213 HGNC:2482 CTBP1 gene CTBP1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915 30847515 False 3 0;100;0 1.214 False ENSG00000159692 ENSG00000159692 HGNC:2494 CTC1 gene CTC1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Cerebroretinal microangiopathy with calcifications and cysts, 612199 30847515 False 3 0;100;0 1.214 False ENSG00000178971 ENSG00000178971 HGNC:26169 CTCF gene CTCF Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 21, 615502 30847515 False 3 0;100;0 1.214 False ENSG00000102974 ENSG00000102974 HGNC:13723 CTDP1 gene CTDP1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Congenital cataracts, facial dysmorphism, and neuropathy, 604168 30847515 False 3 0;100;0 1.214 False ENSG00000060069 ENSG00000060069 HGNC:2498 CTH gene CTH Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Homocysteine, total plasma, elevated;Cystathioninuria, 219500 30847515 False 3 0;100;0 1.214 False ENSG00000116761 ENSG00000116761 HGNC:2501 CTLA4 gene CTLA4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autoimmune lymphoproliferative syndrome, type V, 616100 30847515 False 3 0;100;0 1.214 False ENSG00000163599 ENSG00000163599 HGNC:2505 CTNNA2 gene CTNNA2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia, complex, with other brain malformations 9, 618174 30847515 False 3 0;100;0 1.214 False ENSG00000066032 ENSG00000066032 HGNC:2510 CTNNB1 gene CTNNB1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Exudative vitreoretinopathy 7, 617572;Neurodevelopmental disorder with spastic diplegia and visual defects, 615075 30847515 False 3 0;100;0 1.214 False ENSG00000168036 ENSG00000168036 HGNC:2514 CTNND1 gene CTNND1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Blepharocheilodontic syndrome 2, 617681 30847515 False 3 0;100;0 1.214 False ENSG00000198561 ENSG00000198561 HGNC:2515 CTNS gene CTNS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Cystinosis, atypical nephropathic, 219800;Cystinosis, late-onset juvenile or adolescent nephropathic, 219900;Cystinosis, ocular nonnephropathic, 219750;Cystinosis, nephropathic, 219800 30847515 False 3 0;100;0 1.214 False ENSG00000040531 ENSG00000040531 HGNC:2518 CTPS1 gene CTPS1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 24, 615897 30847515 False 3 0;100;0 1.214 False ENSG00000171793 ENSG00000171793 HGNC:2519 CTSA gene CTSA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Galactosialidosis, 256540 30847515 False 3 0;100;0 1.214 False ENSG00000064601 ENSG00000064601 HGNC:9251 CTSC gene CTSC Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Papillon-Lefevre syndrome, 245000;Periodontitis 1, juvenile, 170650;Haim-Munk syndrome, 245010 30847515 False 3 0;100;0 1.214 False ENSG00000109861 ENSG00000109861 HGNC:2528 CTSD gene CTSD Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 10, 610127 30847515 False 3 0;100;0 1.214 False ENSG00000117984 ENSG00000117984 HGNC:2529 CTSF gene CTSF Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362 30847515 False 3 0;100;0 1.214 False ENSG00000174080 ENSG00000174080 HGNC:2531 CTSK gene CTSK Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Pycnodysostosis, 265800 30847515 False 3 0;100;0 1.214 False ENSG00000143387 ENSG00000143387 HGNC:2536 CUBN gene CUBN Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Megaloblastic anemia-1, Finnish type, 261100 30847515 False 3 0;100;0 1.214 False ENSG00000107611 ENSG00000107611 HGNC:2548 CUL4B gene CUL4B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354 30847515 False 3 0;100;0 1.214 False ENSG00000158290 ENSG00000158290 HGNC:2555 CUL7 gene CUL7 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal 3-M syndrome 1, 273750 30847515 False 3 0;100;0 1.214 False ENSG00000044090 ENSG00000044090 HGNC:21024 CUX1 gene CUX1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global developmental delay with or without impaired intellectual development, 618330 30847515 False 3 0;100;0 1.214 False ENSG00000257923 ENSG00000257923 HGNC:2557 CUX2 gene CUX2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 67, 618141 30847515 False 3 0;100;0 1.214 False ENSG00000111249 ENSG00000111249 HGNC:19347 CWC27 gene CWC27 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa with or without skeletal anomalies, 250410 30847515 False 3 0;100;0 1.214 False ENSG00000153015 ENSG00000153015 HGNC:10664 CWF19L1 gene CWF19L1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 17, 616127 30847515 False 3 0;100;0 1.214 False ENSG00000095485 ENSG00000095485 HGNC:25613 CXCR4 gene CXCR4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myelokathexis, isolated;WHIM syndrome, 193670 30847515 False 3 0;100;0 1.214 False ENSG00000121966 ENSG00000121966 HGNC:2561 CYB5R3 gene CYB5R3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Methemoglobinemia, type I, 250800;Methemoglobinemia, type II, 250800 30847515 False 3 0;100;0 1.214 False ENSG00000100243 ENSG00000100243 HGNC:2873 CYBA gene CYBA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 30847515 False 3 0;100;0 1.214 False ENSG00000051523 ENSG00000051523 HGNC:2577 CYBB gene CYBB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency 34, mycobacteriosis, X-linked, 300645;Chronic granulomatous disease, X-linked, 306400 30847515 False 3 0;100;0 1.214 False ENSG00000165168 ENSG00000165168 HGNC:2578 CYC1 gene CYC1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 6, 615453 30847515 False 3 0;100;0 1.214 False ENSG00000179091 ENSG00000179091 HGNC:2579 CYCS gene CYCS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Thrombocytopenia 4, 612004 30847515 False 3 0;100;0 1.214 False ENSG00000172115 ENSG00000172115 HGNC:19986 CYFIP2 gene CYFIP2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 65, 618008 30847515 False 3 0;100;0 1.214 False ENSG00000055163 ENSG00000055163 HGNC:13760 CYP11A1 gene CYP11A1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 30847515 False 3 0;100;0 1.214 False ENSG00000140459 ENSG00000140459 HGNC:2590 CYP11B1 gene CYP11B1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Aldosteronism, glucocorticoid-remediable, 103900;Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010 30847515 False 3 0;100;0 1.214 False ENSG00000160882 ENSG00000160882 HGNC:2591 CYP17A1 gene CYP17A1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal 17-alpha-hydroxylase/17,20-lyase deficiency, 202110;17,20-lyase deficiency, isolated, 202110 30847515 False 3 0;100;0 1.214 False ENSG00000148795 ENSG00000148795 HGNC:2593 CYP1B1 gene CYP1B1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300;Anterior segment dysgenesis 6, multiple subtypes, 617315 30847515 False 3 0;100;0 1.214 False ENSG00000138061 ENSG00000138061 HGNC:2597 CYP21A2 gene CYP21A2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910;Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 30847515 False 3 0;100;0 1.214 False ENSG00000231852 ENSG00000231852 HGNC:2600 CYP27A1 gene CYP27A1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Cerebrotendinous xanthomatosis, 213700 30847515 False 3 0;100;0 1.214 False ENSG00000135929 ENSG00000135929 HGNC:2605 CYP27B1 gene CYP27B1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Vitamin D-dependent rickets, type I, 264700 30847515 False 3 0;100;0 1.214 False ENSG00000111012 ENSG00000111012 HGNC:2606 CYP2U1 gene CYP2U1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 56, autosomal recessive, 615030 30847515 False 3 0;100;0 1.214 False ENSG00000155016 ENSG00000155016 HGNC:20582 CYP4F22 gene CYP4F22 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 5, 604777 30847515 False 3 0;100;0 1.214 False ENSG00000171954 ENSG00000171954 HGNC:26820 CYP7B1 gene CYP7B1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 5A, autosomal recessive, 270800;Bile acid synthesis defect, congenital, 3, 613812 30847515 False 3 0;100;0 1.214 False ENSG00000172817 ENSG00000172817 HGNC:2652 D2HGDH gene D2HGDH Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal D-2-hydroxyglutaric aciduria, 600721 30847515 False 3 0;100;0 1.214 False ENSG00000180902 ENSG00000180902 HGNC:28358 DAB1 gene DAB1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 37, 615945 30847515 False 3 0;100;0 1.214 False ENSG00000173406 ENSG00000173406 HGNC:2661 DAG1 gene DAG1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, 616538 30847515 False 3 0;100;0 1.214 False ENSG00000173402 ENSG00000173402 HGNC:2666 DARS gene DARS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 30847515 False 3 0;100;0 1.214 False ENSG00000115866 ENSG00000115866 HGNC:2678 DARS2 gene DARS2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 30847515 False 3 0;100;0 1.214 False ENSG00000117593 ENSG00000117593 HGNC:25538 DBH gene DBH Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Orthostatic hypotension 1, due to DBH deficiency, 223360 30847515 False 3 0;100;0 1.214 False ENSG00000123454 ENSG00000123454 HGNC:2689 DBT gene DBT Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Maple syrup urine disease, type II, 248600 30847515 False 3 0;100;0 1.214 False ENSG00000137992 ENSG00000137992 HGNC:2698 DCAF17 gene DCAF17 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Woodhouse-Sakati syndrome, 241080 30847515 False 3 0;100;0 1.214 False ENSG00000115827 ENSG00000115827 HGNC:25784 DCC gene DCC Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mirror movements 1 and/or agenesis of the corpus callosum, 157600;Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542 30847515 False 3 0;100;0 1.214 False ENSG00000187323 ENSG00000187323 HGNC:2701 DCDC2 gene DCDC2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Deafness, autosomal recessive 66, 610212;Sclerosing cholangitis, neonatal, 617394;Nephronophthisis 19, 616217 30847515 False 3 0;100;0 1.214 False ENSG00000146038 ENSG00000146038 HGNC:18141 DCHS1 gene DCHS1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Van Maldergem syndrome 1, 601390;Mitral valve prolapse 2, 607829 30847515 False 3 0;100;0 1.214 False ENSG00000166341 ENSG00000166341 HGNC:13681 DCLRE1B gene DCLRE1B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 8, OMIM:620133 30847515 False 3 0;100;0 1.214 False ENSG00000118655 ENSG00000118655 HGNC:17641 DCLRE1C gene DCLRE1C Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Omenn syndrome, 603554;Severe combined immunodeficiency, Athabascan type, 602450 30847515 False 3 0;100;0 1.214 False ENSG00000152457 ENSG00000152457 HGNC:17642 DCPS gene DCPS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Al-Raqad syndrome, 616459 30847515 False 3 0;100;0 1.214 False ENSG00000110063 ENSG00000110063 HGNC:29812 DCTN1 gene DCTN1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Perry syndrome, 168605;Neuropathy, distal hereditary motor, type VIIB, 607641 30847515 False 3 0;100;0 1.214 False ENSG00000204843 ENSG00000204843 HGNC:2711 DCX gene DCX Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Subcortical laminal heterotopia, X-linked, 300067;Lissencephaly, X-linked, 300067 30847515 False 3 0;100;0 1.214 False ENSG00000077279 ENSG00000077279 HGNC:2714 DDB2 gene DDB2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 30847515 False 3 0;100;0 1.214 False ENSG00000134574 ENSG00000134574 HGNC:2718 DDC gene DDC Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Aromatic L-amino acid decarboxylase deficiency, OMIM:608643;Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084 30847515 False 3 0;100;0 1.214 False ENSG00000132437 ENSG00000132437 HGNC:2719 DDHD1 gene DDHD1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 28, autosomal recessive, 609340 30847515 False 3 0;100;0 1.214 False ENSG00000100523 ENSG00000100523 HGNC:19714 DDHD2 gene DDHD2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 54, autosomal recessive, 615033 30847515 False 3 0;100;0 1.214 False ENSG00000085788 ENSG00000085788 HGNC:29106 DDR2 gene DDR2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Warburg-Cinotti syndrome, 618175;Spondylometaepiphyseal dysplasia, short limb-hand type, 271665 30847515 False 3 0;100;0 1.214 False ENSG00000162733 ENSG00000162733 HGNC:2731 DDX11 gene DDX11 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Warsaw breakage syndrome, 613398 30847515 False 3 0;100;0 1.214 False ENSG00000013573 ENSG00000013573 HGNC:2736 DDX3X gene DDX3X Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mental retardation, X-linked 102, 300958 30847515 False 3 0;100;0 1.214 False ENSG00000215301 ENSG00000215301 HGNC:2745 DDX59 gene DDX59 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome V, 174300 30847515 False 3 0;100;0 1.214 False ENSG00000118197 ENSG00000118197 HGNC:25360 DEAF1 gene DEAF1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Dyskinesia, seizures, and intellectual developmental disorder, 617171;Mental retardation, autosomal dominant 24, 615828 30847515 False 3 0;100;0 1.214 False ENSG00000177030 ENSG00000177030 HGNC:14677 DEGS1 gene DEGS1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 18, 618404 30847515 False 3 0;100;0 1.214 False ENSG00000143753 ENSG00000143753 HGNC:13709 DENND5A gene DENND5A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 49, 617281 30847515 False 3 0;100;0 1.214 False ENSG00000184014 ENSG00000184014 HGNC:19344 DEPDC5 gene DEPDC5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy, familial focal, with variable foci 1, 604364 30847515 False 3 50;50;0 1.214 False ENSG00000100150 ENSG00000100150 HGNC:18423 DES gene DES Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myopathy, myofibrillar, 1, 601419;Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400;Cardiomyopathy, dilated, 1I, 604765 30847515 False 3 0;100;0 1.214 False ENSG00000175084 ENSG00000175084 HGNC:2770 DFNA5 gene DFNA5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Deafness, autosomal dominant 5, 600994 30847515 False 3 0;100;0 1.214 False ENSG00000105928 ENSG00000105928 HGNC:2810 DFNB59 gene DFNB59 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 59, 610220 30847515 False 3 0;100;0 1.214 False ENSG00000204311 ENSG00000204311 HGNC:29502 DGKE gene DGKE Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 7, 615008 30847515 False 3 0;100;0 1.214 False ENSG00000153933 ENSG00000153933 HGNC:2852 DGUOK gene DGUOK Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070;Portal hypertension, noncirrhotic, 617068 30847515 False 3 0;100;0 1.214 False ENSG00000114956 ENSG00000114956 HGNC:2858 DHCR24 gene DHCR24 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Desmosterolosis, 602398 30847515 False 3 0;100;0 1.214 False ENSG00000116133 ENSG00000116133 HGNC:2859 DHCR7 gene DHCR7 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Smith-Lemli-Opitz syndrome, 270400 30847515 False 3 0;100;0 1.214 False ENSG00000172893 ENSG00000172893 HGNC:2860 DHDDS gene DHDDS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Congenital disorder of glycosylation, type 1bb, 613861;Developmental delay and seizures with or without movement abnormalities, 617836;Retinitis pigmentosa 59, 613861 30847515 False 3 0;100;0 1.214 False ENSG00000117682 ENSG00000117682 HGNC:20603 DHFR gene DHFR Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 30847515 False 3 0;100;0 1.214 False ENSG00000228716 ENSG00000228716 HGNC:2861 DHODH gene DHODH Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Miller syndrome, 263750 30847515 False 3 0;100;0 1.214 False ENSG00000102967 ENSG00000102967 HGNC:2867 DHPS gene DHPS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with seizures and speech and walking impairment, 618480 30847515 False 3 0;100;0 1.214 False ENSG00000095059 ENSG00000095059 HGNC:2869 DHTKD1 gene DHTKD1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal 2-aminoadipic 2-oxoadipic aciduria, 204750;?Charcot-Marie-Tooth disease, axonal, type 2Q, 615025 30847515 False 3 0;100;0 1.214 False ENSG00000181192 ENSG00000181192 HGNC:23537 DHX30 gene DHX30 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with severe motor impairment and absent language, 617804 30847515 False 3 0;100;0 1.214 False ENSG00000132153 ENSG00000132153 HGNC:16716 DIAPH1 gene DIAPH1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Deafness, autosomal dominant 1, 124900;Seizures, cortical blindness, microcephaly syndrome, 616632 30847515 False 3 0;100;0 1.214 False ENSG00000131504 ENSG00000131504 HGNC:2876 DIS3L2 gene DIS3L2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Perlman syndrome, 267000 30847515 False 3 0;100;0 1.214 False ENSG00000144535 ENSG00000144535 HGNC:28648 DISP1 gene DISP1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Holoprosencephaly 30847515 False 3 0;100;0 1.214 False ENSG00000154309 ENSG00000154309 HGNC:19711 DKC1 gene DKC1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Dyskeratosis congenita, X-linked, 305000 30847515 False 3 0;100;0 1.214 False ENSG00000130826 ENSG00000130826 HGNC:2890 DLAT gene DLAT Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Pyruvate dehydrogenase E2 deficiency, 245348 30847515 False 3 0;100;0 1.214 False ENSG00000150768 ENSG00000150768 HGNC:2896 DLD gene DLD Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Dihydrolipoamide dehydrogenase deficiency, 246900 30847515 False 3 0;100;0 1.214 False ENSG00000091140 ENSG00000091140 HGNC:2898 DLG3 gene DLG3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked 90, 300850 30847515 False 3 0;100;0 1.214 False ENSG00000082458 ENSG00000082458 HGNC:2902 DLG4 gene DLG4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual disability with marfanoid features;Intellectual developmental disorder 62, 618793 30847515 False 3 0;100;0 1.214 False ENSG00000132535 ENSG00000132535 HGNC:2903 DLL3 gene DLL3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis 1, autosomal recessive, 277300 30847515 False 3 0;100;0 1.214 False ENSG00000090932 ENSG00000090932 HGNC:2909 DLL4 gene DLL4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Adams-Oliver syndrome 6, 616589 30847515 False 3 0;100;0 1.214 False ENSG00000128917 ENSG00000128917 HGNC:2910 DLX3 gene DLX3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Trichodontoosseous syndrome, 190320;Amelogenesis imperfecta, type IV, 104510 30847515 False 3 0;100;0 1.214 False ENSG00000064195 ENSG00000064195 HGNC:2916 DLX5 gene DLX5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Split-hand/foot malformation 1 with sensorineural hearing loss, 220600 30847515 False 3 0;100;0 1.214 False ENSG00000105880 ENSG00000105880 HGNC:2918 DMD gene DMD Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Becker muscular dystrophy, 300376;Cardiomyopathy, dilated, 3B, 302045;Duchenne muscular dystrophy, 310200 30847515 False 3 0;100;0 1.214 False ENSG00000198947 ENSG00000198947 HGNC:2928 DMP1 gene DMP1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hypophosphatemic rickets, AR, 241520 30847515 False 3 0;100;0 1.214 False ENSG00000152592 ENSG00000152592 HGNC:2932 DMPK gene DMPK Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myotonic dystrophy 1, OMIM:160900 30847515 False 3 0;50;50 1.214 False ENSG00000104936 ENSG00000104936 HGNC:2933 DNA2 gene DNA2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Seckel syndrome 8, 615807;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156 30847515 False 3 0;100;0 1.214 False ENSG00000138346 ENSG00000138346 HGNC:2939 DNAAF1 gene DNAAF1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 13, 613193 30847515 False 3 0;100;0 1.214 False ENSG00000154099 ENSG00000154099 HGNC:30539 DNAAF3 gene DNAAF3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 2, 606763 30847515 False 3 0;100;0 1.214 False ENSG00000167646 ENSG00000167646 HGNC:30492 DNAAF4 gene DNAAF4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 25, 615482 30847515 False 3 0;100;0 1.214 False ENSG00000256061 ENSG00000256061 HGNC:21493 DNAH11 gene DNAH11 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 30847515 False 3 0;100;0 1.214 False ENSG00000105877 ENSG00000105877 HGNC:2942 DNAH5 gene DNAH5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 30847515 False 3 0;100;0 1.214 False ENSG00000039139 ENSG00000039139 HGNC:2950 DNAH9 gene DNAH9 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 40, 618300 30847515 False 3 0;100;0 1.214 False ENSG00000007174 ENSG00000007174 HGNC:2953 DNAI1 gene DNAI1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 30847515 False 3 0;100;0 1.214 False ENSG00000122735 ENSG00000122735 HGNC:2954 DNAJB11 gene DNAJB11 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic kidney disease 6 with or without polycystic liver disease, 618061 30847515 False 3 0;100;0 1.214 False ENSG00000090520 ENSG00000090520 HGNC:14889 DNAJB6 gene DNAJB6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Muscular dystrophy, limb-girdle, autosomal dominant 1, 603511 30847515 False 3 0;100;0 1.214 False ENSG00000105993 ENSG00000105993 HGNC:14888 DNAJC12 gene DNAJC12 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 30847515 False 3 0;100;0 1.214 False ENSG00000108176 ENSG00000108176 HGNC:28908 DNAJC19 gene DNAJC19 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type V, 610198 30847515 False 3 0;100;0 1.214 False ENSG00000205981 ENSG00000205981 HGNC:30528 DNAJC21 gene DNAJC21 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Bone marrow failure syndrome 3, 617052 30847515 False 3 0;100;0 1.214 False ENSG00000168724 ENSG00000168724 HGNC:27030 DNAJC5 gene DNAJC5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350 30847515 False 3 0;100;0 1.214 False ENSG00000101152 ENSG00000101152 HGNC:16235 DNASE2 gene DNASE2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Autoinflammatory-pancytopenia syndrome, OMIM:619858 30847515 False 3 0;100;0 1.214 False ENSG00000105612 ENSG00000105612 HGNC:2960 DNM1 gene DNM1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 31, 616346 30847515 False 3 0;100;0 1.214 False ENSG00000106976 ENSG00000106976 HGNC:2972 DNM1L gene DNM1L Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Optic atrophy 5, 610708;Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 30847515 False 3 0;100;0 1.214 False ENSG00000087470 ENSG00000087470 HGNC:2973 DNM2 gene DNM2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Lethal congenital contracture syndrome 5, 615368;Charcot-Marie-Tooth disease, dominant intermediate B, 606482;Charcot-Marie-Tooth disease, axonal type 2M, 606482;Centronuclear myopathy 1, 160150 30847515 False 3 0;100;0 1.214 False ENSG00000079805 ENSG00000079805 HGNC:2974 DNMT1 gene DNMT1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121;Neuropathy, hereditary sensory, type IE, 614116 30847515 False 3 0;100;0 1.214 False ENSG00000130816 ENSG00000130816 HGNC:2976 DNMT3A gene DNMT3A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tatton-Brown-Rahman syndrome, 615879 30847515 False 3 0;100;0 1.214 False ENSG00000119772 ENSG00000119772 HGNC:2978 DNMT3B gene DNMT3B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 30847515 False 3 0;100;0 1.214 False ENSG00000088305 ENSG00000088305 HGNC:2979 DOCK2 gene DOCK2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 40, 616433 30847515 False 3 0;100;0 1.214 False ENSG00000134516 ENSG00000134516 HGNC:2988 DOCK3 gene DOCK3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia OMIM:618292;neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia MONDO:0032661 30847515 False 3 0;100;0 1.214 False ENSG00000088538 ENSG00000088538 HGNC:2989 DOCK6 gene DOCK6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Adams-Oliver syndrome 2, 614219 30847515 False 3 0;100;0 1.214 False ENSG00000130158 ENSG00000130158 HGNC:19189 DOCK7 gene DOCK7 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 23, 615859 30847515 False 3 0;100;0 1.214 False ENSG00000116641 ENSG00000116641 HGNC:19190 DOCK8 gene DOCK8 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 30847515 False 3 0;100;0 1.214 False ENSG00000107099 ENSG00000107099 HGNC:19191 DOK7 gene DOK7 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Fetal akinesia deformation sequence 3, 618389;Myasthenic syndrome, congenital, 10, 254300 30847515 False 3 0;100;0 1.214 False ENSG00000175920 ENSG00000175920 HGNC:26594 DOLK gene DOLK Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Im, 610768 30847515 False 3 0;100;0 1.214 False ENSG00000175283 ENSG00000175283 HGNC:23406 DONSON gene DONSON Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, short stature, and limb abnormalities, 617604;Microcephaly-micromelia syndrome, 251230 30847515 False 3 0;100;0 1.214 False ENSG00000159147 ENSG00000159147 HGNC:2993 DPAGT1 gene DPAGT1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750;Congenital disorder of glycosylation, type Ij, 608093 30847515 False 3 0;100;0 1.214 False ENSG00000172269 ENSG00000172269 HGNC:2995 DPF2 gene DPF2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Coffin-Siris syndrome 7, 618027 30847515 False 3 0;100;0 1.214 False ENSG00000133884 ENSG00000133884 HGNC:9964 DPH1 gene DPH1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Developmental delay with short stature, dysmorphic facial features, and sparse hair, 616901 30847515 False 3 0;100;0 1.214 False ENSG00000108963 ENSG00000108963 HGNC:3003 DPM1 gene DPM1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ie, 608799 30847515 False 3 0;100;0 1.214 False ENSG00000000419 ENSG00000000419 HGNC:3005 DPM2 gene DPM2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iu, 615042 30847515 False 3 0;100;0 1.214 False ENSG00000136908 ENSG00000136908 HGNC:3006 DPM3 gene DPM3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937 30847515 False 3 0;100;0 1.214 False ENSG00000179085 ENSG00000179085 HGNC:3007 DPYD gene DPYD Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal 5-fluorouracil toxicity, 274270;Dihydropyrimidine dehydrogenase deficiency, 274270 30847515 False 3 0;100;0 1.214 False ENSG00000188641 ENSG00000188641 HGNC:3012 DPYS gene DPYS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Dihydropyrimidinuria, 222748 30847515 False 3 0;100;0 1.214 False ENSG00000147647 ENSG00000147647 HGNC:3013 DSP gene DSP Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676;Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821;Skin fragility-woolly hair syndrome, 607655;Arrhythmogenic right ventricular dysplasia 8, 607450;Keratosis palmoplantaris striata II, 612908;Epidermolysis bullosa, lethal acantholytic, 609638 30847515 False 3 0;100;0 1.214 False ENSG00000096696 ENSG00000096696 HGNC:3052 DSPP gene DSPP Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dentinogenesis imperfecta, Shields type II, 125490;Dentinogenesis imperfecta, Shields type III, 125500;Deafness, autosomal dominant 39, with dentinogenesis, 605594;Dentin dysplasia, type II, 125420 30847515 False 3 0;100;0 1.214 False ENSG00000152591 ENSG00000152591 HGNC:3054 DSTYK gene DSTYK Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 23, 270750;Congenital anomalies of kidney and urinary tract 1, 610805 30847515 False 3 0;100;0 1.214 False ENSG00000133059 ENSG00000133059 HGNC:29043 DTNBP1 gene DTNBP1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 7, 614076 30847515 False 3 0;100;0 1.214 False ENSG00000047579 ENSG00000047579 HGNC:17328 DUOX2 gene DUOX2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Thyroid dyshormonogenesis 6, 607200 30847515 False 3 0;100;0 1.214 False ENSG00000140279 ENSG00000140279 HGNC:13273 DVL1 gene DVL1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Robinow syndrome, autosomal dominant 2, 616331 30847515 False 3 0;100;0 1.214 False ENSG00000107404 ENSG00000107404 HGNC:3084 DVL3 gene DVL3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Robinow syndrome, autosomal dominant 3, 616894 30847515 False 3 0;100;0 1.214 False ENSG00000161202 ENSG00000161202 HGNC:3087 DYM gene DYM Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Dyggve-Melchior-Clausen disease, 223800;Smith-McCort dysplasia, 607326 30847515 False 3 0;100;0 1.214 False ENSG00000141627 ENSG00000141627 HGNC:21317 DYNC1H1 gene DYNC1H1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600;Mental retardation, autosomal dominant 13, 614563;Charcot-Marie-Tooth disease, axonal, type 20, 614228 30847515 False 3 0;100;0 1.214 False ENSG00000197102 ENSG00000197102 HGNC:2961 DYNC2H1 gene DYNC2H1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 30847515 False 3 0;100;0 1.214 False ENSG00000187240 ENSG00000187240 HGNC:2962 DYNC2LI1 gene DYNC2LI1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 15 with polydactyly, 617088 30847515 False 3 0;100;0 1.214 False ENSG00000138036 ENSG00000138036 HGNC:24595 DYRK1A gene DYRK1A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 7, 614104 30847515 False 3 0;100;0 1.214 False ENSG00000157540 ENSG00000157540 HGNC:3091 DYSF gene DYSF Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, distal, with anterior tibial onset, 606768;Muscular dystrophy, limb-girdle, autosomal recessive 2, 253601;Miyoshi muscular dystrophy 1, 254130 30847515 False 3 0;100;0 1.214 False ENSG00000135636 ENSG00000135636 HGNC:3097 DZIP1L gene DZIP1L Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Polycystic kidney disease 5, 617610 30847515 False 3 0;100;0 1.214 False ENSG00000158163 ENSG00000158163 HGNC:26551 EARS2 gene EARS2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 12, 614924 30847515 False 3 0;100;0 1.214 False ENSG00000103356 ENSG00000103356 HGNC:29419 EBF3 gene EBF3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypotonia, ataxia, and delayed development syndrome OMIM:617330;hypotonia, ataxia, and delayed development syndrome MONDO:0015021 30847515 False 3 0;100;0 1.214 False ENSG00000108001 ENSG00000108001 HGNC:19087 EBP gene EBP Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Chondrodysplasia punctata, X-linked dominant, 302960;MEND syndrome, 300960 30847515 False 3 0;100;0 1.214 False ENSG00000147155 ENSG00000147155 HGNC:3133 ECEL1 gene ECEL1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, distal, type 5D, 615065 30847515 False 3 0;100;0 1.214 False ENSG00000171551 ENSG00000171551 HGNC:3147 ECHS1 gene ECHS1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 30847515 False 3 0;100;0 1.214 False ENSG00000127884 ENSG00000127884 HGNC:3151 EDA gene EDA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Tooth agenesis, selective, X-linked 1, 313500;Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 30847515 False 3 0;100;0 1.214 False ENSG00000158813 ENSG00000158813 HGNC:3157 EDAR gene EDAR Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490;Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 30847515 False 3 0;100;0 1.214 False ENSG00000135960 ENSG00000135960 HGNC:2895 EDARADD gene EDARADD Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941;Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, 614940 30847515 False 3 0;100;0 1.214 False ENSG00000186197 ENSG00000186197 HGNC:14341 EDNRA gene EDNRA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mandibulofacial dysostosis with alopecia, 616367 30847515 False 3 0;100;0 1.214 False ENSG00000151617 ENSG00000151617 HGNC:3179 EDNRB gene EDNRB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Waardenburg syndrome, type 4A, 277580;ABCD syndrome, 600501 30847515 False 3 0;100;0 1.214 False ENSG00000136160 ENSG00000136160 HGNC:3180 EED gene EED Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cohen-Gibson syndrome, 617561 30847515 False 3 0;100;0 1.214 False ENSG00000074266 ENSG00000074266 HGNC:3188 EEF1A2 gene EEF1A2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 38, 616393;Epileptic encephalopathy, early infantile, 33, 616409 30847515 False 3 0;100;0 1.214 False ENSG00000101210 ENSG00000101210 HGNC:3192 EFHC1 gene EFHC1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Epilepsy, juvenile absence, susceptibility to, 1}, 607631;{Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 30847515 False 3 0;100;0 1.214 False ENSG00000096093 ENSG00000096093 HGNC:16406 EFNB1 gene EFNB1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Craniofrontonasal dysplasia, 304110 30847515 False 3 0;100;0 1.214 False ENSG00000090776 ENSG00000090776 HGNC:3226 EFTUD2 gene EFTUD2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mandibulofacial dysostosis, Guion-Almeida type, 610536 30847515 False 3 0;100;0 1.214 False ENSG00000108883 ENSG00000108883 HGNC:30858 EGR2 gene EGR2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 1D, 607678;Dejerine-Sottas disease, 145900;Hypomyelinating neuropathy, congenital, 1, 605253 30847515 False 3 0;100;0 1.214 False ENSG00000122877 ENSG00000122877 HGNC:3239 EHMT1 gene EHMT1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Kleefstra syndrome 1, 610253 30847515 False 3 0;100;0 1.214 False ENSG00000181090 ENSG00000181090 HGNC:24650 EIF2AK3 gene EIF2AK3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Wolcott-Rallison syndrome, 226980 30847515 False 3 0;100;0 1.214 False ENSG00000172071 ENSG00000172071 HGNC:3255 EIF2B1 gene EIF2B1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, 603896 30847515 False 3 0;100;0 1.214 False ENSG00000111361 ENSG00000111361 HGNC:3257 EIF2B2 gene EIF2B2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, 603896;Ovarioleukodystrophy, 603896 30847515 False 3 0;100;0 1.214 False ENSG00000119718 ENSG00000119718 HGNC:3258 EIF2B3 gene EIF2B3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, 603896 30847515 False 3 0;100;0 1.214 False ENSG00000070785 ENSG00000070785 HGNC:3259 EIF2B4 gene EIF2B4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, 603896;Ovarioleukodystrophy, 603896 30847515 False 3 0;100;0 1.214 False ENSG00000115211 ENSG00000115211 HGNC:3260 EIF2B5 gene EIF2B5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, 603896;Ovarioleukodystrophy, 603896 30847515 False 3 0;100;0 1.214 False ENSG00000145191 ENSG00000145191 HGNC:3261 EIF2S3 gene EIF2S3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females MEHMO syndrome, 300148 30847515 False 3 0;100;0 1.214 False ENSG00000130741 ENSG00000130741 HGNC:3267 EIF3F gene EIF3F Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 67, 618295 30847515 False 3 0;100;0 1.214 False ENSG00000175390 ENSG00000175390 HGNC:3275 EIF4A3 gene EIF4A3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Robin sequence with cleft mandible and limb anomalies, 268305 30847515 False 3 0;100;0 1.214 False ENSG00000141543 ENSG00000141543 HGNC:18683 ELAC2 gene ELAC2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 17, 615440 30847515 False 3 0;100;0 1.214 False ENSG00000006744 ENSG00000006744 HGNC:14198 ELANE gene ELANE Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neutropenia, severe congenital 1, autosomal dominant, 202700;Neutropenia, cyclic, 162800 30847515 False 3 0;100;0 1.214 False ENSG00000197561 ENSG00000197561 HGNC:3309 ELN gene ELN Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cutis laxa, autosomal dominant, 123700;Supravalvar aortic stenosis, 185500 30847515 False 3 0;100;0 1.214 False ENSG00000049540 ENSG00000049540 HGNC:3327 ELOVL4 gene ELOVL4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Stargardt disease 3, 600110;Ichthyosis, spastic quadriplegia, and mental retardation, 614457;Spinocerebellar ataxia 34, 133190 30847515 False 3 0;100;0 1.214 False ENSG00000118402 ENSG00000118402 HGNC:14415 ELOVL5 gene ELOVL5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 38, 615957 30847515 False 3 0;100;0 1.214 False ENSG00000012660 ENSG00000012660 HGNC:21308 ELP1 gene ELP1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Dysautonomia, familial, 223900 30847515 False 3 0;100;0 1.214 False ENSG00000070061 ENSG00000070061 HGNC:5959 ELP2 gene ELP2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 58, 617270 30847515 False 3 0;100;0 1.214 False ENSG00000134759 ENSG00000134759 HGNC:18248 EMC1 gene EMC1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cerebellar atrophy, visual impairment, and psychomotor retardation, 616875 30847515;35234901 False 3 50;50;0 1.214 False ENSG00000127463 ENSG00000127463 HGNC:28957 EMD gene EMD Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 30847515 False 3 0;100;0 1.214 False ENSG00000102119 ENSG00000102119 HGNC:3331 EML1 gene EML1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Band heterotopia, 600348 30847515 False 3 0;100;0 1.214 False ENSG00000066629 ENSG00000066629 HGNC:3330 EMX2 gene EMX2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Schizencephaly, 269160 30847515 False 3 0;100;0 1.214 False ENSG00000170370 ENSG00000170370 HGNC:3341 ENG gene ENG Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Telangiectasia, hereditary hemorrhagic, type 1, 187300 30847515 False 3 0;100;0 1.214 False ENSG00000106991 ENSG00000106991 HGNC:3349 ENO3 gene ENO3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease XIII, 612932 30847515 False 3 0;100;0 1.214 False ENSG00000108515 ENSG00000108515 HGNC:3354 ENPP1 gene ENPP1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arterial calcification, generalized, of infancy, 1, 208000;Cole disease, 615522;Hypophosphatemic rickets, autosomal recessive, 2, 613312 30847515 False 3 0;100;0 1.214 False ENSG00000197594 ENSG00000197594 HGNC:3356 ENTPD1 gene ENTPD1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 64, autosomal recessive, 615683 30847515 False 3 0;100;0 1.214 False ENSG00000138185 ENSG00000138185 HGNC:3363 EOGT gene EOGT Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Adams-Oliver syndrome 4, 615297 30847515 False 3 0;100;0 1.214 False ENSG00000163378 ENSG00000163378 HGNC:28526 EP300 gene EP300 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Rubinstein-Taybi syndrome 2, 613684;Menke-Hennekam syndrome 2, 618333 30847515 False 3 0;100;0 1.214 False ENSG00000100393 ENSG00000100393 HGNC:3373 EPB41 gene EPB41 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Elliptocytosis-1, 611804 30847515 False 3 0;100;0 1.214 False ENSG00000159023 ENSG00000159023 HGNC:3377 EPB42 gene EPB42 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Spherocytosis, type 5, 612690 30847515 False 3 0;100;0 1.214 False ENSG00000166947 ENSG00000166947 HGNC:3381 EPG5 gene EPG5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Vici syndrome, 242840 30847515 False 3 0;100;0 1.214 False ENSG00000152223 ENSG00000152223 HGNC:29331 EPHB4 gene EPHB4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Capillary malformation-arteriovenous malformation 2, 618196;Lymphatic malformation 7, 617300 30847515 False 3 0;100;0 1.214 False ENSG00000196411 ENSG00000196411 HGNC:3395 EPM2A gene EPM2A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 2A (Lafora), 254780 30847515 False 3 0;100;0 1.214 False ENSG00000112425 ENSG00000112425 HGNC:3413 EPRS gene EPRS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 15, 617951 30847515 False 3 0;100;0 1.214 False ENSG00000136628 ENSG00000136628 HGNC:3418 ERCC1 gene ERCC1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Cerebrooculofacioskeletal syndrome 4, 610758 30847515 False 3 0;100;0 1.214 False ENSG00000012061 ENSG00000012061 HGNC:3433 ERCC2 gene ERCC2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Cerebrooculofacioskeletal syndrome 2, 610756;Trichothiodystrophy 1, photosensitive, 601675;Xeroderma pigmentosum, group D, 278730 30847515 False 3 0;100;0 1.214 False ENSG00000104884 ENSG00000104884 HGNC:3434 ERCC3 gene ERCC3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 2, photosensitive, 616390;Xeroderma pigmentosum, group B, 610651 30847515 False 3 0;100;0 1.214 False ENSG00000163161 ENSG00000163161 HGNC:3435 ERCC4 gene ERCC4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group F, 278760;Fanconi anemia, complementation group Q, 615272;XFE progeroid syndrome, 610965;Xeroderma pigmentosum, type F/Cockayne syndrome, 278760 30847515 False 3 0;100;0 1.214 False ENSG00000175595 ENSG00000175595 HGNC:3436 ERCC5 gene ERCC5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Cerebrooculofacioskeletal syndrome 3, 616570;Xeroderma pigmentosum, group G/Cockayne syndrome, 278780;Xeroderma pigmentosum, group G, 278780 30847515 False 3 0;100;0 1.214 False ENSG00000134899 ENSG00000134899 HGNC:3437 ERCC6 gene ERCC6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cerebrooculofacioskeletal syndrome 1, 214150;UV-sensitive syndrome 1, 600630;De Sanctis-Cacchione syndrome, 278800;Cockayne syndrome, type B, 133540;Premature ovarian failure 11, 616946 30847515 False 3 0;100;0 1.214 False ENSG00000225830 ENSG00000225830 HGNC:3438 ERCC6L2 gene ERCC6L2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Bone marrow failure syndrome 2, 615715 30847515 False 3 0;100;0 1.214 False ENSG00000182150 ENSG00000182150 HGNC:26922 ERCC8 gene ERCC8 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Cockayne syndrome, type A, 216400;UV-sensitive syndrome 2, 614621 30847515 False 3 0;100;0 1.214 False ENSG00000049167 ENSG00000049167 HGNC:3439 ERF gene ERF Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Chitayat syndrome, 617180;Craniosynostosis 4, 600775 30847515 False 3 0;100;0 1.214 False ENSG00000105722 ENSG00000105722 HGNC:3444 ERLIN1 gene ERLIN1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 62, 615681 30847515 False 3 0;100;0 1.214 False ENSG00000107566 ENSG00000107566 HGNC:16947 ERLIN2 gene ERLIN2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 18, autosomal recessive, 611225 30847515 False 3 0;100;0 1.214 False ENSG00000147475 ENSG00000147475 HGNC:1356 ESCO2 gene ESCO2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal SC phocomelia syndrome, 269000;Roberts syndrome, 268300 30847515 False 3 0;100;0 1.214 False ENSG00000171320 ENSG00000171320 HGNC:27230 ESRRB gene ESRRB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 35, 608565 30847515 False 3 0;100;0 1.214 False ENSG00000119715 ENSG00000119715 HGNC:3473 ETFA gene ETFA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIA, OMIM:231680;multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 30847515 False 3 0;100;0 1.214 False ENSG00000140374 ENSG00000140374 HGNC:3481 ETFB gene ETFB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIB, OMIM:231680;multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 7912128;12815589;25929793;27604308;30847515;32550677 False 3 0;100;0 1.214 False ENSG00000105379 ENSG00000105379 HGNC:3482 ETFDH gene ETFDH Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIC, 231680 30847515 False 3 0;100;0 1.214 False ENSG00000171503 ENSG00000171503 HGNC:3483 ETHE1 gene ETHE1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ethylmalonic encephalopathy, 602473 30847515 False 3 0;100;0 1.214 False ENSG00000105755 ENSG00000105755 HGNC:23287 ETV6 gene ETV6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Thrombocytopenia 5, 616216 30847515 False 3 0;100;0 1.214 False ENSG00000139083 ENSG00000139083 HGNC:3495 EVC gene EVC Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ellis-van Creveld syndrome, 225500;?Weyers acrofacial dysostosis, 193530 30847515 False 3 0;100;0 1.214 False ENSG00000072840 ENSG00000072840 HGNC:3497 EVC2 gene EVC2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ellis-van Creveld syndrome, 225500;Weyers acrofacial dysostosis, 193530 30847515 False 3 0;100;0 1.214 False ENSG00000173040 ENSG00000173040 HGNC:19747 EXOSC3 gene EXOSC3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1B, 614678 30847515 False 3 0;100;0 1.214 False ENSG00000107371 ENSG00000107371 HGNC:17944 EXT1 gene EXT1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Chondrosarcoma, 215300;Exostoses, multiple, type 1, 133700 30847515 False 3 0;100;0 1.214 False ENSG00000182197 ENSG00000182197 HGNC:3512 EXT2 gene EXT2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Exostoses, multiple, type 2, 133701;Seizures, scoliosis, and macrocephaly syndrome, 616682 30847515 False 3 0;100;0 1.214 False ENSG00000151348 ENSG00000151348 HGNC:3513 EXTL3 gene EXTL3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425 30847515 False 3 0;100;0 1.214 False ENSG00000012232 ENSG00000012232 HGNC:3518 EYA1 gene EYA1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Otofaciocervical syndrome, 166780;Branchiootorenal syndrome 1, with or without cataracts, 113650;Anterior segment anomalies with or without cataract, 602588;Branchiootic syndrome 1, 602588 30847515 False 3 0;100;0 1.214 False ENSG00000104313 ENSG00000104313 HGNC:3519 EYA4 gene EYA4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Cardiomyopathy, dilated, 1J, 605362;Deafness, autosomal dominant 10, 601316 30847515 False 3 0;100;0 1.214 False ENSG00000112319 ENSG00000112319 HGNC:3522 EZH2 gene EZH2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Weaver syndrome, 277590 30847515 False 3 0;100;0 1.214 False ENSG00000106462 ENSG00000106462 HGNC:3527 F10 gene F10 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Factor X deficiency, 227600 30847515 False 3 0;100;0 1.214 False ENSG00000126218 ENSG00000126218 HGNC:3528 F11 gene F11 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Factor XI deficiency, autosomal recessive, 612416;Factor XI deficiency, autosomal dominant, 612416 30847515 False 3 0;100;0 1.214 False ENSG00000088926 ENSG00000088926 HGNC:3529 F12 gene F12 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Angioedema, hereditary, 3, OMIM:610618;Factor XII deficiency, OMIM:234000 30847515 False 3 0;100;0 1.214 False ENSG00000131187 ENSG00000131187 HGNC:3530 F13A1 gene F13A1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Factor XIIIA deficiency, 613225 30847515 False 3 0;100;0 1.214 False ENSG00000124491 ENSG00000124491 HGNC:3531 F13B gene F13B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Factor XIIIB deficiency, 613235 30847515 False 3 0;100;0 1.214 False ENSG00000143278 ENSG00000143278 HGNC:3534 F2 gene F2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dysprothrombinemia, 613679;Thrombophilia due to thrombin defect, 188050;Hypoprothrombinemia, 613679 30847515 False 3 0;100;0 1.214 False ENSG00000180210 ENSG00000180210 HGNC:3535 F5 gene F5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Factor V deficiency, 227400 30847515 False 3 0;100;0 1.214 False ENSG00000198734 ENSG00000198734 HGNC:3542 F7 gene F7 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Factor VII deficiency, 227500 30847515 False 3 0;100;0 1.214 False ENSG00000057593 ENSG00000057593 HGNC:3544 F8 gene F8 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Hemophilia A, 306700 30847515 False 3 0;100;0 1.214 False ENSG00000185010 ENSG00000185010 HGNC:3546 F9 gene F9 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Thrombophilia, X-linked, due to factor IX defect, 300807;Hemophilia B, 306900 30847515 False 3 0;100;0 1.214 False ENSG00000101981 ENSG00000101981 HGNC:3551 FA2H gene FA2H Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 35, autosomal recessive, 612319 30847515 False 3 0;100;0 1.214 False ENSG00000103089 ENSG00000103089 HGNC:21197 FADD gene FADD Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations, 613759 30847515 False 3 0;100;0 1.214 False ENSG00000168040 ENSG00000168040 HGNC:3573 FAH gene FAH Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Tyrosinemia, type I, 276700 30847515 False 3 0;100;0 1.214 False ENSG00000103876 ENSG00000103876 HGNC:3579 FAM111A gene FAM111A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Gracile bone dysplasia, 602361;Kenny-Caffey syndrome, type 2, 127000 30847515;23684011;23996431;25529582;37023242;34382758 False 3 0;100;0 1.214 False ENSG00000166801 ENSG00000166801 HGNC:24725 FAM111B gene FAM111B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, 615704 30847515 False 3 0;100;0 1.214 False ENSG00000189057 ENSG00000189057 HGNC:24200 FAM126A gene FAM126A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 5, 610532 30847515 False 3 0;100;0 1.214 False ENSG00000122591 ENSG00000122591 HGNC:24587 FAM161A gene FAM161A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 28, 606068 30847515 False 3 0;100;0 1.214 False ENSG00000170264 ENSG00000170264 HGNC:25808 FAM20A gene FAM20A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690 30847515 False 3 0;100;0 1.214 False ENSG00000108950 ENSG00000108950 HGNC:23015 FAM20C gene FAM20C Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Raine syndrome, 259775 30847515 False 3 0;100;0 1.214 False ENSG00000177706 ENSG00000177706 HGNC:22140 FAM58A gene FAM58A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) STAR syndrome, 300707 30847515 False 3 0;100;0 1.214 False ENSG00000147382 ENSG00000262919 HGNC:28434 FANCA gene FANCA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group A, 227650 30847515 False 3 0;100;0 1.214 False ENSG00000187741 ENSG00000187741 HGNC:3582 FANCB gene FANCB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Fanconi anemia, complementation group B, 300514 30847515 False 3 0;100;0 1.214 False ENSG00000181544 ENSG00000181544 HGNC:3583 FANCC gene FANCC Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group C, 227645 30847515 False 3 0;100;0 1.214 False ENSG00000158169 ENSG00000158169 HGNC:3584 FANCD2 gene FANCD2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group D2, 227646 30847515 False 3 0;100;0 1.214 False ENSG00000144554 ENSG00000144554 HGNC:3585 FANCE gene FANCE Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group E, 600901 30847515 False 3 0;100;0 1.214 False ENSG00000112039 ENSG00000112039 HGNC:3586 FANCF gene FANCF Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group F, 603467 30847515 False 3 0;100;0 1.214 False ENSG00000183161 ENSG00000183161 HGNC:3587 FANCG gene FANCG Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group G, 614082 30847515 False 3 0;100;0 1.214 False ENSG00000221829 ENSG00000221829 HGNC:3588 FANCI gene FANCI Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group I, 609053 30847515 False 3 0;100;0 1.214 False ENSG00000140525 ENSG00000140525 HGNC:25568 FANCL gene FANCL Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group L, 614083 30847515 False 3 0;100;0 1.214 False ENSG00000115392 ENSG00000115392 HGNC:20748 FAR1 gene FAR1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Peroxisomal fatty acyl-CoA reductase 1 disorder, 616154 30847515 False 3 0;100;0 1.214 False ENSG00000197601 ENSG00000197601 HGNC:26222 FARS2 gene FARS2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 77, autosomal recessive, 617046;Combined oxidative phosphorylation deficiency 14, 614946 30847515 False 3 0;100;0 1.214 False ENSG00000145982 ENSG00000145982 HGNC:21062 FAS gene FAS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autoimmune lymphoproliferative syndrome, type IA, 601859 30847515 False 3 0;100;0 1.214 False ENSG00000026103 ENSG00000026103 HGNC:11920 FASLG gene FASLG Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autoimmune lymphoproliferative syndrome, type IB, 601859 30847515 False 3 0;100;0 1.214 False ENSG00000117560 ENSG00000117560 HGNC:11936 FAT4 gene FAT4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hennekam lymphangiectasia-lymphedema syndrome 2, 616006;Van Maldergem syndrome 2, 615546 30847515 False 3 0;100;0 1.214 False ENSG00000196159 ENSG00000196159 HGNC:23109 FBLN5 gene FBLN5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Macular degeneration, age-related, 3, 608895;Cutis laxa, autosomal recessive, type IA, 219100;Neuropathy, hereditary, with or without age-related macular degeneration, 608895;?Cutis laxa, autosomal dominant 2, 614434 30847515 False 3 0;100;0 1.214 False ENSG00000140092 ENSG00000140092 HGNC:3602 FBN1 gene FBN1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Weill-Marchesani syndrome 2, dominant, 608328;Ectopia lentis, familial, 129600;Geleophysic dysplasia 2, 614185;Marfan lipodystrophy syndrome, 616914;Stiff skin syndrome, 184900;Marfan syndrome, 154700;MASS syndrome, 604308;Acromicric dysplasia, 102370 30847515 False 3 0;100;0 1.214 False ENSG00000166147 ENSG00000166147 HGNC:3603 FBN2 gene FBN2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Macular degeneration, early-onset, 616118;Contractural arachnodactyly, congenital, 121050 30847515 False 3 0;100;0 1.214 False ENSG00000138829 ENSG00000138829 HGNC:3604 FBP1 gene FBP1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Fructose-1,6-bisphosphatase deficiency, 229700 30847515 False 3 0;100;0 1.214 False ENSG00000165140 ENSG00000165140 HGNC:3606 FBXL3 gene FBXL3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with short stature, facial anomalies, and speech defects, 606220 30847515 False 3 0;100;0 1.214 False ENSG00000005812 ENSG00000005812 HGNC:13599 FBXL4 gene FBXL4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471 30847515 False 3 0;100;0 1.214 False ENSG00000112234 ENSG00000112234 HGNC:13601 FBXO11 gene FBXO11 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, 618089 30847515 False 3 0;100;0 1.214 False ENSG00000138081 ENSG00000138081 HGNC:13590 FBXO7 gene FBXO7 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Parkinson disease 15, autosomal recessive, 260300 30847515 False 3 0;100;0 1.214 False ENSG00000100225 ENSG00000100225 HGNC:13586 FCGR3A gene FCGR3A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 20, 615707 30847515 False 3 0;100;0 1.214 False ENSG00000203747 ENSG00000203747 HGNC:3619 FCGR3B gene FCGR3B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neutropenia, alloimmune neonatal 30847515 False 3 0;100;0 1.214 False ENSG00000162747 ENSG00000162747 HGNC:3620 FCN3 gene FCN3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency due to ficolin 3 deficiency, 613860 30847515 False 3 0;100;0 1.214 False ENSG00000142748 ENSG00000142748 HGNC:3625 FDX2 gene FDX2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy OMIM:251900;mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MONDO:0020714 30847515 False 3 0;100;0 1.214 False ENSG00000267673 ENSG00000267673 HGNC:30546 FDXR gene FDXR Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Auditory neuropathy and optic atrophy, 617717 30847515 False 3 0;100;0 1.214 False ENSG00000161513 ENSG00000161513 HGNC:3642 FECH gene FECH Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Protoporphyria, erythropoietic, 1, 177000 30847515 False 3 50;50;0 1.214 False ENSG00000066926 ENSG00000066926 HGNC:3647 FERMT3 gene FERMT3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Leukocyte adhesion deficiency, type III, 612840 30847515 False 3 0;100;0 1.214 False ENSG00000149781 ENSG00000149781 HGNC:23151 FGA gene FGA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dysfibrinogenemia, congenital, 616004;Hypodysfibrinogenemia, congenital, 616004;Amyloidosis, familial visceral, 105200;Afibrinogenemia, congenital, 202400 30847515 False 3 0;100;0 1.214 False ENSG00000171560 ENSG00000171560 HGNC:3661 FGB gene FGB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dysfibrinogenemia, congenital, 616004;Afibrinogenemia, congenital, 202400;Hypofibrinogenemia, congenital, 202400 30847515 False 3 0;100;0 1.214 False ENSG00000171564 ENSG00000171564 HGNC:3662 FGD1 gene FGD1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked syndromic 16, 305400;Aarskog-Scott syndrome, 305400 30847515 False 3 0;100;0 1.214 False ENSG00000102302 ENSG00000102302 HGNC:3663 FGD4 gene FGD4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4H, 609311 30847515 False 3 0;100;0 1.214 False ENSG00000139132 ENSG00000139132 HGNC:19125 FGF10 gene FGF10 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LADD syndrome, 149730;Aplasia of lacrimal and salivary glands, 180920 30847515 False 3 0;100;0 1.214 False ENSG00000070193 ENSG00000070193 HGNC:3666 FGF12 gene FGF12 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 47, 617166 30847515 False 3 0;100;0 1.214 False ENSG00000114279 ENSG00000114279 HGNC:3668 FGF14 gene FGF14 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 27, 609307 30847515 False 3 0;100;0 1.214 False ENSG00000102466 ENSG00000102466 HGNC:3671 FGF16 gene FGF16 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Metacarpal 4-5 fusion, 309630 30847515 False 3 0;100;0 1.214 False ENSG00000196468 ENSG00000196468 HGNC:3672 FGF23 gene FGF23 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypophosphatemic rickets, autosomal dominant, 193100;Tumoral calcinosis, hyperphosphatemic, familial, 2, 617993;Osteomalacia, tumor-induced 30847515 False 3 0;100;0 1.214 False ENSG00000118972 ENSG00000118972 HGNC:3680 FGF3 gene FGF3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Deafness, congenital with inner ear agenesis, microtia, and microdontia, 610706 30847515 False 3 0;100;0 1.214 False ENSG00000186895 ENSG00000186895 HGNC:3681 FGF8 gene FGF8 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypogonadotropic hypogonadism 6 with or without anosmia, 612702 30847515 False 3 0;100;0 1.214 False ENSG00000107831 ENSG00000107831 HGNC:3686 FGFR1 gene FGFR1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pfeiffer syndrome, 101600;Osteoglophonic dysplasia, 166250;Hypogonadotropic hypogonadism 2 with or without anosmia, 147950;Hartsfield syndrome, 615465;Jackson-Weiss syndrome, 123150;Trigonocephaly 1, 190440 30847515 False 3 0;100;0 1.214 False ENSG00000077782 ENSG00000077782 HGNC:3688 FGFR2 gene FGFR2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Saethre-Chotzen syndrome, 101400;Apert syndrome, 101200;Beare-Stevenson cutis gyrata syndrome, 123790;Pfeiffer syndrome, 101600;Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410;Crouzon syndrome, 123500;Scaphocephaly and Axenfeld-Rieger anomaly;Craniofacial-skeletal-dermatologic dysplasia, 101600;Bent bone dysplasia syndrome, 614592;Craniosynostosis, nonspecific;LADD syndrome, 149730;Scaphocephaly, maxillary retrusion, and mental retardation, 609579;Jackson-Weiss syndrome, 123150 30847515 False 3 0;100;0 1.214 False ENSG00000066468 ENSG00000066468 HGNC:3689 FGFR3 gene FGFR3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Thanatophoric dysplasia, type II, 187601;Muenke syndrome, 602849;SADDAN, 616482;Crouzon syndrome with acanthosis nigricans, 612247;CATSHL syndrome, 610474;Achondroplasia, 100800;LADD syndrome, 149730;Thanatophoric dysplasia, type I, 187600;Hypochondroplasia, 146000 30847515 False 3 0;100;0 1.214 False ENSG00000068078 ENSG00000068078 HGNC:3690 FGG gene FGG Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dysfibrinogenemia, congenital, 616004;Hypodysfibrinogenemia, 616004;Afibrinogenemia, congenital, 202400;Hypofibrinogenemia, congenital, 202400 30847515 False 3 0;100;0 1.214 False ENSG00000171557 ENSG00000171557 HGNC:3694 FH gene FH Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Leiomyomatosis and renal cell cancer, 150800;Fumarase deficiency, 606812 30847515 False 3 0;100;0 1.214 False ENSG00000091483 ENSG00000091483 HGNC:3700 FHL1 gene FHL1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) ?Uruguay faciocardiomusculoskeletal syndrome, 300280;Emery-Dreifuss muscular dystrophy 6, X-linked, 300696;Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717;Myopathy, X-linked, with postural muscle atrophy, 300696;Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718;Scapuloperoneal myopathy, X-linked dominant, 300695 30847515 False 3 0;100;0 1.214 False ENSG00000022267 ENSG00000022267 HGNC:3702 FIG4 gene FIG4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4J, 611228;Yunis-Varon syndrome, 216340;?Polymicrogyria, bilateral temporooccipital, 612691;Amyotrophic lateral sclerosis 11, 612577 30847515 False 3 0;100;0 1.214 False ENSG00000112367 ENSG00000112367 HGNC:16873 FKBP10 gene FKBP10 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Bruck syndrome 1, 259450;Osteogenesis imperfecta, type XI, 610968 30847515 False 3 0;100;0 1.214 False ENSG00000141756 ENSG00000141756 HGNC:18169 FKBP14 gene FKBP14 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, kyphoscoliotic type, 2, 614557 30847515 False 3 0;100;0 1.214 False ENSG00000106080 ENSG00000106080 HGNC:18625 FKRP gene FKRP Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, 606612;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155 30847515 False 3 0;100;0 1.214 False ENSG00000181027 ENSG00000181027 HGNC:17997 FKTN gene FKTN Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, 613152;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800;Cardiomyopathy, dilated, 1X, 611615;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588 30847515 False 3 0;100;0 1.214 False ENSG00000106692 ENSG00000106692 HGNC:3622 FLAD1 gene FLAD1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, 255100 30847515 False 3 0;100;0 1.214 False ENSG00000160688 ENSG00000160688 HGNC:24671 FLCN gene FLCN Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pneumothorax, primary spontaneous, 173600;Birt-Hogg-Dube syndrome, 135150 30847515 False 3 0;100;0 1.214 False ENSG00000154803 ENSG00000154803 HGNC:27310 FLI1 gene FLI1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bleeding disorder, platelet-type, 21, 617443 30847515 False 3 0;100;0 1.214 False ENSG00000151702 ENSG00000151702 HGNC:3749 FLNA gene FLNA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Melnick-Needles syndrome, 309350;Congenital short bowel syndrome, 300048;Terminal osseous dysplasia, 300244;Intestinal pseudoobstruction, neuronal, 300048;?FG syndrome 2, 300321;Otopalatodigital syndrome, type II, 304120;Heterotopia, periventricular, 1, 300049;Cardiac valvular dysplasia, X-linked, 314400;Frontometaphyseal dysplasia 1, 305620;Otopalatodigital syndrome, type I, 311300 30847515 False 3 0;100;0 1.214 False ENSG00000196924 ENSG00000196924 HGNC:3754 FLNB gene FLNB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spondylocarpotarsal synostosis syndrome, 272460;Atelosteogenesis, type III, 108721;Larsen syndrome, 150250;Boomerang dysplasia, 112310;Atelosteogenesis, type I, 108720 30847515 False 3 0;100;0 1.214 False ENSG00000136068 ENSG00000136068 HGNC:3755 FLNC gene FLNC Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, familial hypertrophic, 26, OMIM:617047;Cardiomyopathy, familial restrictive 5, OMIM:617047;Hypertrophic cardiomyopathy 26, MONDO:0014883;Myopathy, distal, 4, OMIM:614065;Distal myopathy with posterior leg and anterior hand involvement, MONDO:0013550;Myopathy, myofibrillar, 5, OMIM:609524;Myopathy, myofibrillar, 5, MONDO:0012289 30847515 False 3 0;100;0 1.214 False ENSG00000128591 ENSG00000128591 HGNC:3756 FLT4 gene FLT4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lymphatic malformation 1, 153100 30847515 False 3 0;100;0 1.214 False ENSG00000037280 ENSG00000037280 HGNC:3767 FLVCR1 gene FLVCR1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ataxia, posterior column, with retinitis pigmentosa, 609033 30847515 False 3 0;100;0 1.214 False ENSG00000162769 ENSG00000162769 HGNC:24682 FLVCR2 gene FLVCR2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, 225790 30847515 False 3 0;100;0 1.214 False ENSG00000119686 ENSG00000119686 HGNC:20105 FMN2 gene FMN2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 47, 616193 30847515 False 3 0;100;0 1.214 False ENSG00000155816 ENSG00000155816 HGNC:14074 FMO3 gene FMO3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Trimethylaminuria, 602079 30847515 False 3 0;100;0 1.214 False ENSG00000007933 ENSG00000007933 HGNC:3771 FMR1 gene FMR1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Fragile X syndrome, 300624;Premature ovarian failure 1, 311360;Fragile X tremor/ataxia syndrome, 300623 30847515 False 3 0;100;0 1.214 False ENSG00000102081 ENSG00000102081 HGNC:3775 FN1 gene FN1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Plasma fibronectin deficiency, 614101;Glomerulopathy with fibronectin deposits 2, 601894;Spondylometaphyseal dysplasia, corner fracture type, 184255 30847515 False 3 0;100;0 1.214 False ENSG00000115414 ENSG00000115414 HGNC:3778 FOLR1 gene FOLR1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration due to cerebral folate transport deficiency, 613068 30847515 False 3 0;100;0 1.214 False ENSG00000110195 ENSG00000110195 HGNC:3791 FOXC1 gene FOXC1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Anterior segment dysgenesis 3, multiple subtypes, 601631;Axenfeld-Rieger syndrome, type 3, 602482 30847515 False 3 0;100;0 1.214 False ENSG00000054598 ENSG00000054598 HGNC:3800 FOXC2 gene FOXC2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400;Lymphedema-distichiasis syndrome, 153400 30847515 False 3 0;100;0 1.214 False ENSG00000176692 ENSG00000176692 HGNC:3801 FOXE1 gene FOXE1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Bamforth-Lazarus syndrome, 241850 30847515 False 3 0;100;0 1.214 False ENSG00000178919 ENSG00000178919 HGNC:3806 FOXE3 gene FOXE3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cataract 34, multiple types, 612968;Anterior segment dysgenesis 2, multiple subtypes, 610256 30847515 False 3 0;100;0 1.214 False ENSG00000186790 ENSG00000186790 HGNC:3808 FOXF1 gene FOXF1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Alveolar capillary dysplasia with misalignment of pulmonary veins, 265380 30847515 False 3 0;100;0 1.214 False ENSG00000103241 ENSG00000103241 HGNC:3809 FOXG1 gene FOXG1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rett syndrome, congenital variant, 613454 30847515 False 3 0;100;0 1.214 False ENSG00000176165 ENSG00000176165 HGNC:3811 FOXN1 gene FOXN1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 30847515 False 3 0;100;0 1.214 False ENSG00000109101 ENSG00000109101 HGNC:12765 FOXP1 gene FOXP1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation with language impairment and with or without autistic features, 613670 30847515 False 3 0;100;0 1.214 False ENSG00000114861 ENSG00000114861 HGNC:3823 FOXP2 gene FOXP2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Speech-language disorder-1, 602081 30847515 False 3 0;100;0 1.214 False ENSG00000128573 ENSG00000128573 HGNC:13875 FOXP3 gene FOXP3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 30847515 False 3 0;100;0 1.214 False ENSG00000049768 ENSG00000049768 HGNC:6106 FOXRED1 gene FOXRED1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 19, 618241 30847515 False 3 0;100;0 1.214 False ENSG00000110074 ENSG00000110074 HGNC:26927 FRAS1 gene FRAS1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Fraser syndrome 1, 219000 30847515 False 3 0;100;0 1.214 False ENSG00000138759 ENSG00000138759 HGNC:19185 FREM1 gene FREM1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Trigonocephaly 2, 614485;Manitoba oculotrichoanal syndrome, 248450;Bifid nose with or without anorectal and renal anomalies, 608980 30847515 False 3 0;100;0 1.214 False ENSG00000164946 ENSG00000164946 HGNC:23399 FREM2 gene FREM2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Fraser syndrome 2, 617666;Cryptophthalmos, unilateral or bilateral, isolated, 123570 30847515 False 3 0;100;0 1.214 False ENSG00000150893 ENSG00000150893 HGNC:25396 FRMD7 gene FRMD7 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Nystagmus 1, congenital, X-linked, 310700;Nystagmus, infantile periodic alternating, X-linked, 310700 30847515 False 3 0;100;0 1.214 False ENSG00000165694 ENSG00000165694 HGNC:8079 FRMPD4 gene FRMPD4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mental retardation, X-linked 104, 300983 30847515 False 3 0;100;0 1.214 False ENSG00000169933 ENSG00000169933 HGNC:29007 FRRS1L gene FRRS1L Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 37, 616981 30847515 False 3 0;100;0 1.214 False ENSG00000260230 ENSG00000260230 HGNC:1362 FTCD gene FTCD Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Glutamate formiminotransferase deficiency, 229100 30847515 False 3 0;100;0 1.214 False ENSG00000160282 ENSG00000160282 HGNC:3974 FTL gene FTL Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperferritinemia-cataract syndrome, 600886;L-ferritin deficiency, dominant and recessive, 615604;Neurodegeneration with brain iron accumulation 3, 606159 30847515 False 3 0;100;0 1.214 False ENSG00000087086 ENSG00000087086 HGNC:3999 FTSJ1 gene FTSJ1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked 9/44, 309549 30847515 False 3 0;100;0 1.214 False ENSG00000068438 ENSG00000068438 HGNC:13254 FUCA1 gene FUCA1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Fucosidosis, 230000 30847515 False 3 0;100;0 1.214 False ENSG00000179163 ENSG00000179163 HGNC:4006 FUT8 gene FUT8 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation with defective fucosylation 1, 618005 30847515 False 3 0;100;0 1.214 False ENSG00000033170 ENSG00000033170 HGNC:4019 FXN gene FXN Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Friedreich ataxia OMIM:229300;Friedreich ataxia with retained reflexes OMIM:229300;Friedreich ataxia 1 MONDO:0100340 30847515 False 3 0;100;0 1.214 False ENSG00000165060 ENSG00000165060 HGNC:3951 FYB1 gene FYB1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Thrombocytopenia 3, 273900 30847515 False 3 0;100;0 1.214 False ENSG00000082074 ENSG00000082074 HGNC:4036 FYCO1 gene FYCO1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Cataract 18, autosomal recessive, 610019 30847515 False 3 0;100;0 1.214 False ENSG00000163820 ENSG00000163820 HGNC:14673 FZD2 gene FZD2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Omodysplasia 2, 164745 30847515 False 3 0;100;0 1.214 False ENSG00000180340 ENSG00000180340 HGNC:4040 FZD6 gene FZD6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Nail disorder, nonsyndromic congenital, 10, (claw-shaped nails), 614157 30847515 False 3 0;100;0 1.214 False ENSG00000164930 ENSG00000164930 HGNC:4044 G6PC gene G6PC Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease Ia, 232200 30847515 False 3 0;100;0 1.214 False ENSG00000131482 ENSG00000131482 HGNC:4056 G6PC3 gene G6PC3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Dursun syndrome, 612541;Neutropenia, severe congenital 4, autosomal recessive, 612541 30847515 False 3 0;100;0 1.214 False ENSG00000141349 ENSG00000141349 HGNC:24861 G6PD gene G6PD Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Hemolytic anemia, G6PD deficient (favism), 300908 30847515 False 3 0;100;0 1.214 False ENSG00000160211 ENSG00000160211 HGNC:4057 GAA gene GAA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease II, 232300 30847515 False 3 0;100;0 1.214 False ENSG00000171298 ENSG00000171298 HGNC:4065 GABBR2 gene GABBR2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with poor language and loss of hand skills, 617903;Epileptic encephalopathy, early infantile, 59, 617904 30847515 False 3 0;100;0 1.214 False ENSG00000136928 ENSG00000136928 HGNC:4507 GABRA1 gene GABRA1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Epilepsy, childhood absence, susceptibility to, 4}, 611136;Epileptic encephalopathy, early infantile, 19, 615744;{Epilepsy, juvenile myoclonic, susceptibility to, 5}, 611136 30847515 False 3 0;100;0 1.214 False ENSG00000022355 ENSG00000022355 HGNC:4075 GABRA2 gene GABRA2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 78, 618557 30847515 False 3 0;100;0 1.214 False ENSG00000151834 ENSG00000151834 HGNC:4076 GABRB2 gene GABRB2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, infantile or early childhood, 2, 617829 30847515 False 3 0;100;0 1.214 False ENSG00000145864 ENSG00000145864 HGNC:4082 GABRB3 gene GABRB3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 43, 617113 30847515 False 3 0;100;0 1.214 False ENSG00000166206 ENSG00000166206 HGNC:4083 GABRG2 gene GABRG2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 74, 618396;Epilepsy, generalized, with febrile seizures plus, type 3, 607681;Febrile seizures, familial, 8, 607681 30847515 False 3 0;100;0 1.214 False ENSG00000113327 ENSG00000113327 HGNC:4087 GALC gene GALC Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Krabbe disease, 245200 30847515 False 3 0;100;0 1.214 False ENSG00000054983 ENSG00000054983 HGNC:4115 GALE gene GALE Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Galactose epimerase deficiency, 230350 30847515 False 3 0;100;0 1.214 False ENSG00000117308 ENSG00000117308 HGNC:4116 GALK1 gene GALK1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Galactokinase deficiency with cataracts, 230200 30847515 False 3 0;100;0 1.214 False ENSG00000108479 ENSG00000108479 HGNC:4118 GALNS gene GALNS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis IVA, 253000 30847515 False 3 0;100;0 1.214 False ENSG00000141012 ENSG00000141012 HGNC:4122 GALNT3 gene GALNT3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Tumoral calcinosis, hyperphosphatemic, familial, 1, 211900 30847515 False 3 0;100;0 1.214 False ENSG00000115339 ENSG00000115339 HGNC:4125 GALT gene GALT Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Galactosemia, 230400 30847515 False 3 0;100;0 1.214 False ENSG00000213930 ENSG00000213930 HGNC:4135 GAMT gene GAMT Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Cerebral creatine deficiency syndrome 2, 612736 30847515 False 3 0;100;0 1.214 False ENSG00000130005 ENSG00000130005 HGNC:4136 GAN gene GAN Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Giant axonal neuropathy-1, 256850 30847515 False 3 0;100;0 1.214 False ENSG00000261609 ENSG00000261609 HGNC:4137 GANAB gene GANAB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic kidney disease 3, 600666 30847515 False 3 0;100;0 1.214 False ENSG00000089597 ENSG00000089597 HGNC:4138 GARS gene GARS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot-Marie-Tooth disease, type 2D, 601472;Neuropathy, distal hereditary motor, type VA, 600794 30847515 False 3 0;100;0 1.214 False ENSG00000106105 ENSG00000106105 HGNC:4162 GAS8 gene GAS8 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 33, 616726 30847515 False 3 0;100;0 1.214 False ENSG00000141013 ENSG00000141013 HGNC:4166 GATA1 gene GATA1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835;Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367;Thrombocytopenia with beta-thalassemia, X-linked, 314050 30847515 False 3 0;100;0 1.214 False ENSG00000102145 ENSG00000102145 HGNC:4170 GATA2 gene GATA2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Immunodeficiency 21, 614172;Emberger syndrome, 614038 30847515 False 3 0;100;0 1.214 False ENSG00000179348 ENSG00000179348 HGNC:4171 GATA3 gene GATA3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 30847515 False 3 0;100;0 1.214 False ENSG00000107485 ENSG00000107485 HGNC:4172 GATA4 gene GATA4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tetralogy of Fallot, 187500;Atrial septal defect 2, 607941;?Testicular anomalies with or without congenital heart disease, 615542;Atrioventricular septal defect 4, 614430;Ventricular septal defect 1, 614429 30847515 False 3 0;100;0 1.214 False ENSG00000136574 ENSG00000136574 HGNC:4173 GATA6 gene GATA6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Persistent truncus arteriosus, 217095;Tetralogy of Fallot, 187500;Atrioventricular septal defect 5, 614474;Atrial septal defect 9, 614475;Pancreatic agenesis and congenital heart defects, 600001 30847515 False 3 0;100;0 1.214 False ENSG00000141448 ENSG00000141448 HGNC:4174 GATAD2B gene GATAD2B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 18, 615074 30847515 False 3 0;100;0 1.214 False ENSG00000143614 ENSG00000143614 HGNC:30778 GATM gene GATM Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Cerebral creatine deficiency syndrome 3, 612718 30847515 False 3 0;100;0 1.214 False ENSG00000171766 ENSG00000171766 HGNC:4175 GBA gene GBA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Gaucher disease, perinatal lethal, 608013;Gaucher disease, type III, 231000;Gaucher disease, type I, 230800;Gaucher disease, type IIIC, 231005;Gaucher disease, type II, 230900 30847515 False 3 0;100;0 1.214 False ENSG00000177628 ENSG00000177628 HGNC:4177 GBA2 gene GBA2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 46, autosomal recessive, 614409 30847515 False 3 0;100;0 1.214 False ENSG00000070610 ENSG00000070610 HGNC:18986 GBE1 gene GBE1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Polyglucosan body disease, adult form, 263570;Glycogen storage disease IV, 232500 30847515 False 3 0;100;0 1.214 False ENSG00000114480 ENSG00000114480 HGNC:4180 GCDH gene GCDH Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Glutaricaciduria, type I, 231670 30847515 False 3 0;100;0 1.214 False ENSG00000105607 ENSG00000105607 HGNC:4189 GCH1 gene GCH1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230;Hyperphenylalaninemia, BH4-deficient, B, 233910 30847515 False 3 0;100;0 1.214 False ENSG00000131979 ENSG00000131979 HGNC:4193 GCK gene GCK Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Diabetes mellitus, permanent neonatal, 606176;MODY, type II, 125851;Hyperinsulinemic hypoglycemia, familial, 3, 602485;Diabetes mellitus, noninsulin-dependent, late onset, 125853 30847515 False 3 0;100;0 1.214 False ENSG00000106633 ENSG00000106633 HGNC:4195 GCLC gene GCLC Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450 30847515 False 3 0;100;0 1.214 False ENSG00000001084 ENSG00000001084 HGNC:4311 GDAP1 gene GDAP1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, axonal, type 2K, OMIM:607831;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, OMIM:607706;Charcot-Marie-Tooth disease, recessive intermediate, A, OMIM:608340;Charcot-Marie-Tooth disease, type 4A, OMIM:214400 30847515 False 3 0;100;0 1.214 False ENSG00000104381 ENSG00000104381 HGNC:15968 GDF5 gene GDF5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Du Pan syndrome, 228900;Symphalangism, proximal, 1B, 615298;Chondrodysplasia, Grebe type, 200700;Brachydactyly, type A1, C, 615072;?Acromesomelic dysplasia, Hunter-Thompson type, 201250;Multiple synostoses syndrome 2, 610017;Brachydactyly, type A2, 112600;Brachydactyly, type C, 113100 30847515 False 3 0;100;0 1.214 False ENSG00000125965 ENSG00000125965 HGNC:4220 GDF6 gene GDF6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Leber congenital amaurosis 17, 615360;Multiple synostoses syndrome 4, 617898;Microphthalmia, isolated 4, 613094;Klippel-Feil syndrome 1, autosomal dominant, 118100;Microphthalmia with coloboma 6, digenic, 613703 30847515 False 3 0;100;0 1.214 False ENSG00000156466 ENSG00000156466 HGNC:4221 GDI1 gene GDI1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mental retardation, X-linked 41, 300849 30847515 False 3 0;100;0 1.214 False ENSG00000203879 ENSG00000203879 HGNC:4226 GFAP gene GFAP Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Alexander disease, 203450 30847515 False 3 0;100;0 1.214 False ENSG00000131095 ENSG00000131095 HGNC:4235 GFER gene GFER Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076 30847515 False 3 0;100;0 1.214 False ENSG00000127554 ENSG00000127554 HGNC:4236 GFI1B gene GFI1B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bleeding disorder, platelet-type, 17, 187900 30847515 False 3 0;100;0 1.214 False ENSG00000165702 ENSG00000165702 HGNC:4238 GFM1 gene GFM1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 1, 609060 30847515 False 3 0;100;0 1.214 False ENSG00000168827 ENSG00000168827 HGNC:13780 GFM2 gene GFM2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 39, 618397 30847515 False 3 0;100;0 1.214 False ENSG00000164347 ENSG00000164347 HGNC:29682 GFPT1 gene GFPT1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Myasthenia, congenital, 12, with tubular aggregates, 610542 30847515 False 3 0;100;0 1.214 False ENSG00000198380 ENSG00000198380 HGNC:4241 GGCX gene GGCX Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, 610842;Vitamin K-dependent clotting factors, combined deficiency of, 1, 277450 30847515 False 3 0;100;0 1.214 False ENSG00000115486 ENSG00000115486 HGNC:4247 GH1 gene GH1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Growth hormone deficiency, isolated, type IA, 262400;Kowarski syndrome, 262650;Growth hormone deficiency, isolated, type IB, 612781;Growth hormone deficiency, isolated, type II, 173100 30847515 False 3 0;100;0 1.214 False ENSG00000259384 ENSG00000259384 HGNC:4261 GHR gene GHR Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Laron dwarfism, 262500;Increased responsiveness to growth hormone, 604271;Growth hormone insensitivity, partial, 604271 30847515 False 3 0;100;0 1.214 False ENSG00000112964 ENSG00000112964 HGNC:4263 GHRHR gene GHRHR Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Growth hormone deficiency, isolated, type IV, 618157 30847515 False 3 0;100;0 1.214 False ENSG00000106128 ENSG00000106128 HGNC:4266 GIF gene GIF Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Intrinsic factor deficiency, 261000 30847515 False 3 0;100;0 1.214 False ENSG00000134812 ENSG00000134812 HGNC:4268 GINS1 gene GINS1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 55, 617827 30847515 False 3 0;100;0 1.214 False ENSG00000101003 ENSG00000101003 HGNC:28980 GIPC3 gene GIPC3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 15, 601869 30847515 False 3 0;100;0 1.214 False ENSG00000179855 ENSG00000179855 HGNC:18183 GJA1 gene GJA1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Oculodentodigital dysplasia, autosomal recessive, 257850;Syndactyly, type III, 186100;Craniometaphyseal dysplasia, autosomal recessive, 218400;Palmoplantar keratoderma with congenital alopecia, 104100;Atrioventricular septal defect 3, 600309;Erythrokeratodermia variabilis et progressiva 3, 617525;Hypoplastic left heart syndrome 1, 241550;Oculodentodigital dysplasia, 164200 30847515 False 3 0;100;0 1.214 False ENSG00000152661 ENSG00000152661 HGNC:4274 GJA3 gene GJA3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cataract 14, multiple types, 601885 30847515 False 3 0;100;0 1.214 False ENSG00000121743 ENSG00000121743 HGNC:4277 GJA8 gene GJA8 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cataract 1, multiple types, 116200 30847515 False 3 0;100;0 1.214 False ENSG00000121634 ENSG00000121634 HGNC:4281 GJB1 gene GJB1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800 30847515 False 3 0;100;0 1.214 False ENSG00000169562 ENSG00000169562 HGNC:4283 GJB2 gene GJB2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Deafness, autosomal recessive 1A, 220290;Keratoderma, palmoplantar, with deafness, 148350;Vohwinkel syndrome, 124500;Deafness, autosomal dominant 3A, 601544;Hystrix-like ichthyosis with deafness, 602540;Bart-Pumphrey syndrome, 149200;Keratitis-ichthyosis-deafness syndrome, 148210 30847515 False 3 0;100;0 1.214 False ENSG00000165474 ENSG00000165474 HGNC:4284 GJB3 gene GJB3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Deafness, autosomal dominant, with peripheral neuropathy;Deafness, autosomal recessive;Deafness, digenic, GJB2/GJB3, 220290;Erythrokeratodermia variabilis et progressiva 1, 133200;Deafness, autosomal dominant 2B, 612644 30847515 False 3 0;100;0 1.214 False ENSG00000188910 ENSG00000188910 HGNC:4285 GJC2 gene GJC2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 44, autosomal recessive, 613206;Lymphatic malformation 3, 613480;Leukodystrophy, hypomyelinating, 2, 608804 30847515 False 3 0;100;0 1.214 False ENSG00000198835 ENSG00000198835 HGNC:17494 GK gene GK Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Glycerol kinase deficiency, 307030 30847515 False 3 0;100;0 1.214 False ENSG00000198814 ENSG00000198814 HGNC:4289 GLA gene GLA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Fabry disease, cardiac variant, 301500;Fabry disease, 301500 30847515 False 3 0;100;0 1.214 False ENSG00000102393 ENSG00000102393 HGNC:4296 GLB1 gene GLB1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal GM1-gangliosidosis, type I, 230500;GM1-gangliosidosis, type III, 230650;Mucopolysaccharidosis type IVB (Morquio), 253010;GM1-gangliosidosis, type II, 230600 30847515 False 3 0;100;0 1.214 False ENSG00000170266 ENSG00000170266 HGNC:4298 GLDC gene GLDC Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Glycine encephalopathy, 605899 30847515 False 3 0;100;0 1.214 False ENSG00000178445 ENSG00000178445 HGNC:4313 GLDN gene GLDN Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Lethal congenital contracture syndrome 11, 617194 30847515 False 3 0;100;0 1.214 False ENSG00000186417 ENSG00000186417 HGNC:29514 GLE1 gene GLE1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Congenital arthrogryposis with anterior horn cell disease, 611890;Lethal congenital contracture syndrome 1, 253310 30847515 False 3 0;100;0 1.214 False ENSG00000119392 ENSG00000119392 HGNC:4315 GLI1 gene GLI1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Polydactyly, preaxial I, 174400;Polydactyly, postaxial, type A8, 618123 30847515 False 3 0;100;0 1.214 False ENSG00000111087 ENSG00000111087 HGNC:4317 GLI2 gene GLI2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holoprosencephaly 9, 610829;Culler-Jones syndrome, 615849 30847515 False 3 0;100;0 1.214 False ENSG00000074047 ENSG00000074047 HGNC:4318 GLI3 gene GLI3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pallister-Hall syndrome, 146510;Greig cephalopolysyndactyly syndrome, 175700;Polydactyly, preaxial, type IV, 174700;Polydactyly, postaxial, types A1 and B, 174200 30847515 False 3 0;100;0 1.214 False ENSG00000106571 ENSG00000106571 HGNC:4319 GLIS3 gene GLIS3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 30847515 False 3 0;100;0 1.214 False ENSG00000107249 ENSG00000107249 HGNC:28510 GLMN gene GLMN Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Glomuvenous malformations, 138000 30847515 False 3 0;100;0 1.214 False ENSG00000174842 ENSG00000174842 HGNC:14373 GLRA1 gene GLRA1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperekplexia 1, 149400 30847515 False 3 0;100;0 1.214 False ENSG00000145888 ENSG00000145888 HGNC:4326 GLRB gene GLRB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hyperekplexia 2, 614619 30847515 False 3 0;100;0 1.214 False ENSG00000109738 ENSG00000109738 HGNC:4329 GLRX5 gene GLRX5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Spasticity, childhood-onset, with hyperglycinemia, 616859;Anemia, sideroblastic, 3, pyridoxine-refractory, 616860 30847515 False 3 0;100;0 1.214 False ENSG00000182512 ENSG00000182512 HGNC:20134 GLUD1 gene GLUD1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hyperinsulinism-hyperammonemia syndrome, 606762 30847515 False 3 0;100;0 1.214 False ENSG00000148672 ENSG00000148672 HGNC:4335 GLUL gene GLUL Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Glutamine deficiency, congenital, 610015 30847515 False 3 0;100;0 1.214 False ENSG00000135821 ENSG00000135821 HGNC:4341 GLYCTK gene GLYCTK Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal D-glyceric aciduria, 220120 30847515 False 3 0;100;0 1.214 False ENSG00000168237 ENSG00000168237 HGNC:24247 GM2A gene GM2A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal GM2-gangliosidosis, AB variant, 272750 30847515 False 3 0;100;0 1.214 False ENSG00000196743 ENSG00000196743 HGNC:4367 GMNN gene GMNN Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Meier-Gorlin syndrome 6, 616835 30847515 False 3 0;100;0 1.214 False ENSG00000112312 ENSG00000112312 HGNC:17493 GMPPA gene GMPPA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Alacrima, achalasia, and mental retardation syndrome, 615510 30847515 False 3 0;100;0 1.214 False ENSG00000144591 ENSG00000144591 HGNC:22923 GMPPB gene GMPPB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, 615350;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, 615351;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352 30847515 False 3 0;100;0 1.214 False ENSG00000173540 ENSG00000173540 HGNC:22932 GNAI1 gene GNAI1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities, OMIM:619854 30847515 False 3 0;100;0 1.214 False ENSG00000127955 ENSG00000127955 HGNC:4384 GNAI3 gene GNAI3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Auriculocondylar syndrome 1, 602483 30847515 False 3 0;100;0 1.214 False ENSG00000065135 ENSG00000065135 HGNC:4387 GNAL gene GNAL Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia 25, 615073 30847515 False 3 0;100;0 1.214 False ENSG00000141404 ENSG00000141404 HGNC:4388 GNAO1 gene GNAO1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 17, 615473;Neurodevelopmental disorder with involuntary movements, 617493 30847515 False 3 0;100;0 1.214 False ENSG00000087258 ENSG00000087258 HGNC:4389 GNAS gene GNAS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pseudopseudohypoparathyroidism, 612463;Pseudohypoparathyroidism Ia, 103580;Osseous heteroplasia, progressive, 166350;Pseudohypoparathyroidism Ic, 612462;ACTH-independent macronodular adrenal hyperplasia, 219080;Pseudohypoparathyroidism Ib, 603233 30847515 False 3 0;100;0 1.214 False ENSG00000087460 ENSG00000087460 HGNC:4392 GNB1 gene GNB1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 42 OMIM:616973;intellectual disability, autosomal dominant 42 MONDO:0014855 30847515 False 3 0;100;0 1.214 False ENSG00000078369 ENSG00000078369 HGNC:4396 GNB5 gene GNB5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with cardiac arrhythmia, 617173;Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182 30847515 False 3 0;100;0 1.214 False ENSG00000069966 ENSG00000069966 HGNC:4401 GNE gene GNE Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Sialuria, 269921;Nonaka myopathy, 605820 30847515 False 3 0;100;0 1.214 False ENSG00000159921 ENSG00000159921 HGNC:23657 GNMT gene GNMT Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Glycine N-methyltransferase deficiency, 606664 30847515 False 3 0;100;0 1.214 False ENSG00000124713 ENSG00000124713 HGNC:4415 GNPAT gene GNPAT Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Rhizomelic chondrodysplasia punctata, type 2, 222765 30847515 False 3 0;100;0 1.214 False ENSG00000116906 ENSG00000116906 HGNC:4416 GNPTAB gene GNPTAB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mucolipidosis III alpha/beta, 252600;Mucolipidosis II alpha/beta, 252500 30847515 False 3 0;100;0 1.214 False ENSG00000111670 ENSG00000111670 HGNC:29670 GNPTG gene GNPTG Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mucolipidosis III gamma, 252605 30847515 False 3 0;100;0 1.214 False ENSG00000090581 ENSG00000090581 HGNC:23026 GNS gene GNS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIID, 252940 30847515 False 3 0;100;0 1.214 False ENSG00000135677 ENSG00000135677 HGNC:4422 GORAB gene GORAB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Geroderma osteodysplasticum, 231070 30847515 False 3 0;100;0 1.214 False ENSG00000120370 ENSG00000120370 HGNC:25676 GOSR2 gene GOSR2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 6, 614018 30847515 False 3 0;100;0 1.214 False ENSG00000108433 ENSG00000108433 HGNC:4431 GP1BA gene GP1BA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bernard-Soulier syndrome, type A2 (dominant), 153670;Bernard-Soulier syndrome, type A1 (recessive), 231200;von Willebrand disease, platelet-type, 177820 30847515 False 3 0;100;0 1.214 False ENSG00000185245 ENSG00000185245 HGNC:4439 GP1BB gene GP1BB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Giant platelet disorder, isolated, 231200;Bernard-Soulier syndrome, type B, 231200 30847515 False 3 0;100;0 1.214 False ENSG00000203618 ENSG00000203618 HGNC:4440 GP6 gene GP6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Bleeding disorder, platelet-type, 11, 614201 30847515 False 3 0;100;0 1.214 False ENSG00000088053 ENSG00000088053 HGNC:14388 GP9 gene GP9 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Bernard-Soulier syndrome, type C, 231200 30847515 False 3 0;100;0 1.214 False ENSG00000169704 ENSG00000169704 HGNC:4444 GPAA1 gene GPAA1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 15, 617810 30847515 False 3 0;100;0 1.214 False ENSG00000197858 ENSG00000197858 HGNC:4446 GPC3 gene GPC3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Simpson-Golabi-Behmel syndrome, type 1, 312870 30847515 False 3 0;100;0 1.214 False ENSG00000147257 ENSG00000147257 HGNC:4451 GPC6 gene GPC6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Omodysplasia 1, 258315 30847515 False 3 0;100;0 1.214 False ENSG00000183098 ENSG00000183098 HGNC:4454 GPD1 gene GPD1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hypertriglyceridemia, transient infantile, 614480 30847515 False 3 0;100;0 1.214 False ENSG00000167588 ENSG00000167588 HGNC:4455 GPHN gene GPHN Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Molybdenum cofactor deficiency C, 615501 30847515 False 3 0;100;0 1.214 False ENSG00000171723 ENSG00000171723 HGNC:15465 GPI gene GPI Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470 30847515 False 3 0;100;0 1.214 False ENSG00000105220 ENSG00000105220 HGNC:4458 GPR143 gene GPR143 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Ocular albinism, type I, Nettleship-Falls type, 300500;Nystagmus 6, congenital, X-linked, 300814 30847515 False 3 0;100;0 1.214 False ENSG00000101850 ENSG00000101850 HGNC:20145 GPR179 gene GPR179 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 30847515 False 3 0;100;0 1.214 False ENSG00000188888 ENSG00000277399 HGNC:31371 GPSM2 gene GPSM2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Chudley-McCullough syndrome, 604213 30847515 False 3 0;100;0 1.214 False ENSG00000121957 ENSG00000121957 HGNC:29501 GPT2 gene GPT2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 49, 616281 30847515 False 3 0;100;0 1.214 False ENSG00000166123 ENSG00000166123 HGNC:18062 GRHL3 gene GRHL3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Van der Woude syndrome 2, 606713 30847515 False 3 0;100;0 1.214 False ENSG00000158055 ENSG00000158055 HGNC:25839 GRHPR gene GRHPR Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hyperoxaluria, primary, type II, 260000 30847515 False 3 0;100;0 1.214 False ENSG00000137106 ENSG00000137106 HGNC:4570 GRIA2 gene GRIA2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with language impairment and behavioral abnormalities, OMIM:618917;neurodevelopmental disorder with language impairment and behavioral abnormalities, MONDO:0030060 30847515;31300657 False 3 0;100;0 1.214 False ENSG00000120251 ENSG00000120251 HGNC:4572 GRIA3 gene GRIA3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked 94, 300699 30847515 False 3 0;100;0 1.214 False ENSG00000125675 ENSG00000125675 HGNC:4573 GRIA4 gene GRIA4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with or without seizures and gait abnormalities, 617864 30847515 False 3 0;100;0 1.214 False ENSG00000152578 ENSG00000152578 HGNC:4574 GRID2 gene GRID2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 18, 616204 30847515 False 3 0;100;0 1.214 False ENSG00000152208 ENSG00000152208 HGNC:4576 GRIK2 gene GRIK2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive, 6, 611092 30847515 False 3 0;100;0 1.214 False ENSG00000164418 ENSG00000164418 HGNC:4580 GRIN1 gene GRIN1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, 617820;Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, 614254 30847515 False 3 0;100;0 1.214 False ENSG00000176884 ENSG00000176884 HGNC:4584 GRIN2A gene GRIN2A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy, focal, with speech disorder and with or without mental retardation, 245570 30847515 False 3 0;100;0 1.214 False ENSG00000183454 ENSG00000183454 HGNC:4585 GRIN2B gene GRIN2B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 27, 616139;Mental retardation, autosomal dominant 6, 613970 30847515 False 3 0;100;0 1.214 False ENSG00000273079 ENSG00000273079 HGNC:4586 GRIN2D gene GRIN2D Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 46, 617162 30847515 False 3 0;100;0 1.214 False ENSG00000105464 ENSG00000105464 HGNC:4588 GRIP1 gene GRIP1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Fraser syndrome 3, 617667 30847515 False 3 0;100;0 1.214 False ENSG00000155974 ENSG00000155974 HGNC:18708 GRM1 gene GRM1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spinocerebellar ataxia 44, 617691;Spinocerebellar ataxia, autosomal recessive 13, 614831 30847515 False 3 0;100;0 1.214 False ENSG00000152822 ENSG00000152822 HGNC:4593 GRM6 gene GRM6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 30847515 False 3 0;100;0 1.214 False ENSG00000113262 ENSG00000113262 HGNC:4598 GRN gene GRN Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Aphasia, primary progressive, 607485;Ceroid lipofuscinosis, neuronal, 11, 614706;Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485 30847515 False 3 0;100;0 1.214 False ENSG00000030582 ENSG00000030582 HGNC:4601 GSC gene GSC Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, 602471 30847515 False 3 0;100;0 1.214 False ENSG00000133937 ENSG00000133937 HGNC:4612 GSS gene GSS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hemolytic anemia due to glutathione synthetase deficiency, 231900;Glutathione synthetase deficiency, 266130 30847515 False 3 0;100;0 1.214 False ENSG00000100983 ENSG00000100983 HGNC:4624 GTF2H5 gene GTF2H5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 3, photosensitive, 616395 30847515 False 3 0;100;0 1.214 False ENSG00000272047 ENSG00000272047 HGNC:21157 GTPBP2 gene GTPBP2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Jaberi-Elahi syndrome, 617988 30847515 False 3 0;100;0 1.214 False ENSG00000172432 ENSG00000172432 HGNC:4670 GTPBP3 gene GTPBP3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 23, 616198 30847515 False 3 0;100;0 1.214 False ENSG00000130299 ENSG00000130299 HGNC:14880 GUCY2C gene GUCY2C Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Diarrhea 6, 614616;Meconium ileus, 614665 30847515 False 3 0;100;0 1.214 False ENSG00000070019 ENSG00000070019 HGNC:4688 GUSB gene GUSB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis VII, 253220 30847515 False 3 0;100;0 1.214 False ENSG00000169919 ENSG00000169919 HGNC:4696 GYG1 gene GYG1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Polyglucosan body myopathy 2, 616199;?Glycogen storage disease XV, 613507 30847515 False 3 0;100;0 1.214 False ENSG00000163754 ENSG00000163754 HGNC:4699 GYS1 gene GYS1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease 0, muscle, 611556 30847515 False 3 0;100;0 1.214 False ENSG00000104812 ENSG00000104812 HGNC:4706 GYS2 gene GYS2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease 0, liver, 240600 30847515 False 3 0;100;0 1.214 False ENSG00000111713 ENSG00000111713 HGNC:4707 GZF1 gene GZF1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Joint laxity, short stature, and myopia, 617662 30847515 False 3 0;100;0 1.214 False ENSG00000125812 ENSG00000125812 HGNC:15808 H19 gene H19 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Silver-Russell syndrome, OMIM:180860;Wilms tumor 2, OMIM:194071;Beckwith-Wiedemann syndrome, OMIM:130650 30847515 False 3 0;100;0 1.214 False ENSG00000130600 ENSG00000130600 HGNC:4713 HAAO gene HAAO Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Vertebral, cardiac, renal, and limb defects syndrome 1, 617660 30847515 False 3 0;100;0 1.214 False ENSG00000162882 ENSG00000162882 HGNC:4796 HACE1 gene HACE1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia and psychomotor retardation with or without seizures, 616756 30847515 False 3 0;100;0 1.214 False ENSG00000085382 ENSG00000085382 HGNC:21033 HADH gene HADH Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530;Hyperinsulinemic hypoglycemia, familial, 4, 609975 30847515 False 3 0;100;0 1.214 False ENSG00000138796 ENSG00000138796 HGNC:4799 HADHA gene HADHA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Fatty liver, acute, of pregnancy, 609016;LCHAD deficiency, 609016;Trifunctional protein deficiency, 609015;HELLP syndrome, maternal, of pregnancy, 609016 30847515 False 3 0;100;0 1.214 False ENSG00000084754 ENSG00000084754 HGNC:4801 HADHB gene HADHB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Trifunctional protein deficiency, 609015 30847515 False 3 0;100;0 1.214 False ENSG00000138029 ENSG00000138029 HGNC:4803 HAMP gene HAMP Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, type 2B, 613313 30847515 False 3 0;100;0 1.214 False ENSG00000105697 ENSG00000105697 HGNC:15598 HAX1 gene HAX1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Neutropenia, severe congenital 3, autosomal recessive, 610738 30847515 False 3 0;100;0 1.214 False ENSG00000143575 ENSG00000143575 HGNC:16915 HBA1 gene HBA1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Erythrocytosis, 7, 617981;Hemoglobin H disease, nondeletional, 613978;Heinz body anemias, alpha-, 140700;Thalassemias, alpha-, 604131;Methemoglobinemia, alpha type, 617973 30847515 False 3 0;100;0 1.214 False ENSG00000206172 ENSG00000206172 HGNC:4823 HBA2 gene HBA2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Erythrocytosis 7, 617981;Hemoglobin H disease, deletional and nondeletional, 613978;Thalassemia, alpha-, 604131;Heinz body anemia, 140700 30847515 False 3 0;100;0 1.214 False ENSG00000188536 ENSG00000188536 HGNC:4824 HBB gene HBB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Delta-beta thalassemia, 141749;Methmoglobinemia, beta type, 617971;Heinz body anemia, 140700;Thalassemia, beta, 613985;Thalassemia-beta, dominant inclusion-body, 603902;Hereditary persistence of fetal hemoglobin, 141749;Erythrocytosis 6, 617980;Sickle cell anemia, 603903 30847515 False 3 0;100;0 1.214 False ENSG00000244734 ENSG00000244734 HGNC:4827 HCCS gene HCCS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Linear skin defects with multiple congenital anomalies 1, 309801 30847515 False 3 0;100;0 1.214 False ENSG00000004961 ENSG00000004961 HGNC:4837 HCFC1 gene HCFC1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 30847515 False 3 0;100;0 1.214 False ENSG00000172534 ENSG00000172534 HGNC:4839 HCN1 gene HCN1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 24, 615871;Generalized epilepsy with febrile seizures plus, type 10, 618482 30847515 False 3 0;100;0 1.214 False ENSG00000164588 ENSG00000164588 HGNC:4845 HCN2 gene HCN2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Febrile seizures 30847515 False 3 0;100;0 1.214 False ENSG00000099822 ENSG00000099822 HGNC:4846 HDAC4 gene HDAC4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brachydactyly-mental retardation syndrome, 600430 30847515 False 3 0;100;0 1.214 False ENSG00000068024 ENSG00000068024 HGNC:14063 HDAC8 gene HDAC8 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Cornelia de Lange syndrome 5, 300882 30847515 False 3 0;100;0 1.214 False ENSG00000147099 ENSG00000147099 HGNC:13315 HECW2 gene HECW2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with hypotonia, seizures, and absent language, 617268 30847515 False 3 0;100;0 1.214 False ENSG00000138411 ENSG00000138411 HGNC:29853 HELLS gene HELLS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency-centromeric instability-facial anomalies syndrome 4, 616911 30847515 False 3 0;100;0 1.214 False ENSG00000119969 ENSG00000119969 HGNC:4861 HEPACAM gene HEPACAM Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926;Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 30847515 False 3 0;100;0 1.214 False ENSG00000165478 ENSG00000165478 HGNC:26361 HERC1 gene HERC1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Macrocephaly, dysmorphic facies, and psychomotor retardation, 617011 30847515 False 3 0;100;0 1.214 False ENSG00000103657 ENSG00000103657 HGNC:4867 HES7 gene HES7 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis 4, autosomal recessive, 613686 30847515 False 3 0;100;0 1.214 False ENSG00000179111 ENSG00000179111 HGNC:15977 HESX1 gene HESX1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Pituitary hormone deficiency, combined, 5, 182230;Growth hormone deficiency with pituitary anomalies, 182230;Septooptic dysplasia, 182230 30847515 False 3 0;100;0 1.214 False ENSG00000163666 ENSG00000163666 HGNC:4877 HEXA gene HEXA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal [Hex A pseudodeficiency], 272800;GM2-gangliosidosis, several forms, 272800;Tay-Sachs disease, 272800 30847515 False 3 0;100;0 1.214 False ENSG00000213614 ENSG00000213614 HGNC:4878 HEXB gene HEXB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Sandhoff disease, infantile, juvenile, and adult forms, 268800 30847515 False 3 0;100;0 1.214 False ENSG00000049860 ENSG00000049860 HGNC:4879 HFE gene HFE Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, 235200 30847515 False 3 0;100;0 1.214 False ENSG00000010704 ENSG00000010704 HGNC:4886 HFE2 gene HFE2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, type 2A, 602390 30847515 False 3 0;100;0 1.214 False ENSG00000168509 ENSG00000168509 HGNC:4887 HGD gene HGD Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Alkaptonuria, 203500 30847515 False 3 0;100;0 1.214 False ENSG00000113924 ENSG00000113924 HGNC:4892 HGSNAT gene HGSNAT Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930;Retinitis pigmentosa 73, 616544 30847515 False 3 0;100;0 1.214 False ENSG00000165102 ENSG00000165102 HGNC:26527 HIBCH gene HIBCH Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 30847515 False 3 0;100;0 1.214 False ENSG00000198130 ENSG00000198130 HGNC:4908 HINT1 gene HINT1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Neuromyotonia and axonal neuropathy, autosomal recessive, 137200 30847515 False 3 0;100;0 1.214 False ENSG00000169567 ENSG00000169567 HGNC:4912 HIST1H1E gene HIST1H1E Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rahman syndrome, 617537 30847515 False 3 0;100;0 1.214 False ENSG00000168298 ENSG00000168298 HGNC:4718 HIVEP2 gene HIVEP2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 43, 616977 30847515 False 3 0;100;0 1.214 False ENSG00000010818 ENSG00000010818 HGNC:4921 HK1 gene HK1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinitis pigmentosa 79, 617460;Hemolytic anemia due to hexokinase deficiency, 235700;Neurodevelopmental disorder with visual defects and brain anomalies, 618547;Neuropathy, hereditary motor and sensory, Russe type, 605285 30847515 False 3 0;100;0 1.214 False ENSG00000156515 ENSG00000156515 HGNC:4922 HLCS gene HLCS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Holocarboxylase synthetase deficiency, 253270 30847515 False 3 0;100;0 1.214 False ENSG00000159267 ENSG00000159267 HGNC:4976 HMBS gene HMBS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Porphyria, acute intermittent, 176000;Porphyria, acute intermittent, nonerythroid variant, 176000 30847515 False 3 50;50;0 1.214 False ENSG00000256269 ENSG00000256269 HGNC:4982 HMGCL gene HMGCL Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal HMG-CoA lyase deficiency, 246450 30847515 False 3 0;100;0 1.214 False ENSG00000117305 ENSG00000117305 HGNC:5005 HMGCS2 gene HMGCS2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal HMG-CoA synthase-2 deficiency, 605911 30847515 False 3 0;100;0 1.214 False ENSG00000134240 ENSG00000134240 HGNC:5008 HNF1B gene HNF1B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diabetes mellitus, noninsulin-dependent, 125853;Renal cysts and diabetes syndrome, 137920 30847515 False 3 0;100;0 1.214 False ENSG00000108753 ENSG00000275410 HGNC:11630 HNF4A gene HNF4A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MODY, type I, 125850;Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, 616026 30847515 False 3 0;100;0 1.214 False ENSG00000101076 ENSG00000101076 HGNC:5024 HNRNPH1 gene HNRNPH1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HNRNPH1-related neurodevelopmental disorder 30847515 False 3 0;100;0 1.214 False ENSG00000169045 ENSG00000169045 HGNC:5041 HNRNPH2 gene HNRNPH2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mental retardation, X-linked, syndromic, Bain type, 300986 30847515 False 3 0;100;0 1.214 False ENSG00000126945 ENSG00000126945 HGNC:5042 HNRNPK gene HNRNPK Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Au-Kline syndrome, 616580 30847515 False 3 0;100;0 1.214 False ENSG00000165119 ENSG00000165119 HGNC:5044 HNRNPU gene HNRNPU Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 54, 617391 30847515 False 3 0;100;0 1.214 False ENSG00000153187 ENSG00000153187 HGNC:5048 HOGA1 gene HOGA1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hyperoxaluria, primary, type III, 613616 30847515 False 3 0;100;0 1.214 False ENSG00000241935 ENSG00000241935 HGNC:25155 HOXA1 gene HOXA1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Athabaskan brainstem dysgenesis syndrome, 601536;Bosley-Salih-Alorainy syndrome, 601536 30847515 False 3 0;100;0 1.214 False ENSG00000105991 ENSG00000105991 HGNC:5099 HOXA11 gene HOXA11 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, 605432 30847515 False 3 0;100;0 1.214 False ENSG00000005073 ENSG00000005073 HGNC:5101 HOXA13 gene HOXA13 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hand-foot-uterus syndrome, 140000;?Guttmacher syndrome, 176305 30847515 False 3 0;100;0 1.214 False ENSG00000106031 ENSG00000106031 HGNC:5102 HOXC13 gene HOXC13 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia 9, hair/nail type, 614931 30847515 False 3 0;100;0 1.214 False ENSG00000123364 ENSG00000123364 HGNC:5125 HOXD13 gene HOXD13 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Brachydactyly-syndactyly syndrome, 610713;Synpolydactyly 1, 186000;Syndactyly, type V, 186300;Brachydactyly, type E, 113300;Brachydactyly, type D, 113200 30847515 False 3 0;100;0 1.214 False ENSG00000128714 ENSG00000128714 HGNC:5136 HPCA gene HPCA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Dystonia 2, torsion, autosomal recessive, 224500 30847515 False 3 0;100;0 1.214 False ENSG00000121905 ENSG00000121905 HGNC:5144 HPD gene HPD Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Tyrosinemia, type III, 276710;Hawkinsinuria, 140350 30847515 False 3 0;100;0 1.214 False ENSG00000158104 ENSG00000158104 HGNC:5147 HPGD gene HPGD Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100;Cranioosteoarthropathy, 259100;Digital clubbing, isolated congenital, 119900 30847515 False 3 0;100;0 1.214 False ENSG00000164120 ENSG00000164120 HGNC:5154 HPRT1 gene HPRT1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Lesch-Nyhan syndrome, 300322;HPRT-related gout, 300323 30847515 False 3 0;100;0 1.214 False ENSG00000165704 ENSG00000165704 HGNC:5157 HPS1 gene HPS1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 1, 203300 30847515 False 3 0;100;0 1.214 False ENSG00000107521 ENSG00000107521 HGNC:5163 HPS3 gene HPS3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 3, 614072 30847515 False 3 0;100;0 1.214 False ENSG00000163755 ENSG00000163755 HGNC:15597 HPS4 gene HPS4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 4, 614073 30847515 False 3 0;100;0 1.214 False ENSG00000100099 ENSG00000100099 HGNC:15844 HPS5 gene HPS5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 5, 614074 30847515 False 3 0;100;0 1.214 False ENSG00000110756 ENSG00000110756 HGNC:17022 HPS6 gene HPS6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 6, 614075 30847515 False 3 0;100;0 1.214 False ENSG00000166189 ENSG00000166189 HGNC:18817 HPSE2 gene HPSE2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Urofacial syndrome 1, 236730 30847515 False 3 0;100;0 1.214 False ENSG00000172987 ENSG00000172987 HGNC:18374 HR gene HR Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Alopecia universalis, 203655;Atrichia with papular lesions, 209500;Hypotrichosis 4, 146550 30847515 False 3 0;100;0 1.214 False ENSG00000168453 ENSG00000168453 HGNC:5172 HRAS gene HRAS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital myopathy with excess of muscle spindles, 218040;Costello syndrome, 218040 30847515 False 3 0;100;0 1.214 False ENSG00000174775 ENSG00000174775 HGNC:5173 HSD17B10 gene HSD17B10 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) HSD10 mitochondrial disease, 300438 30847515 False 3 0;100;0 1.214 False ENSG00000072506 ENSG00000072506 HGNC:4800 HSD17B3 gene HSD17B3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Pseudohermaphroditism, male, with gynecomastia, 264300 30847515 False 3 0;100;0 1.214 False ENSG00000130948 ENSG00000130948 HGNC:5212 HSD17B4 gene HSD17B4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal D-bifunctional protein deficiency, 261515;Perrault syndrome 1, 233400 30847515 False 3 0;100;0 1.214 False ENSG00000133835 ENSG00000133835 HGNC:5213 HSD3B7 gene HSD3B7 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 1, 607765 30847515 False 3 0;100;0 1.214 False ENSG00000099377 ENSG00000099377 HGNC:18324 HSF4 gene HSF4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cataract 5, multiple types, 116800 30847515 False 3 0;100;0 1.214 False ENSG00000102878 ENSG00000102878 HGNC:5227 HSPB1 gene HSPB1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neuropathy, distal hereditary motor, type IIB, 608634;Charcot-Marie-Tooth disease, axonal, type 2F, 606595 30847515 False 3 0;100;0 1.214 False ENSG00000106211 ENSG00000106211 HGNC:5246 HSPB8 gene HSPB8 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot-Marie-Tooth disease, axonal, type 2L, 608673;Neuropathy, distal hereditary motor, type IIA, 158590 30847515 False 3 0;100;0 1.214 False ENSG00000152137 ENSG00000152137 HGNC:30171 HSPD1 gene HSPD1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 13, autosomal dominant, 605280;Leukodystrophy, hypomyelinating, 4, 612233 30847515 False 3 0;100;0 1.214 False ENSG00000144381 ENSG00000144381 HGNC:5261 HSPG2 gene HSPG2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Schwartz-Jampel syndrome, type 1, OMIM:255800;Schwartz-Jampel syndrome, MONDO:0009717;Dyssegmental dysplasia, Silverman-Handmaker type, OMIM:224410;Silverman-Handmaker type dyssegmental dysplasia, MONDO:0009140 30847515 False 3 0;100;0 1.214 False ENSG00000142798 ENSG00000142798 HGNC:5273 HTRA1 gene HTRA1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal CARASIL syndrome, 600142;Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779 30847515 False 3 0;100;0 1.214 False ENSG00000166033 ENSG00000166033 HGNC:9476 HTRA2 gene HTRA2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type VIII, 617248 30847515 False 3 0;100;0 1.214 False ENSG00000115317 ENSG00000115317 HGNC:14348 HUWE1 gene HUWE1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mental retardation, X-linked syndromic, Turner type, 309590 30847515 False 3 0;100;0 1.214 False ENSG00000086758 ENSG00000086758 HGNC:30892 HYDIN gene HYDIN Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 5, 608647 30847515 False 3 0;100;0 1.214 False ENSG00000157423 ENSG00000157423 HGNC:19368 HYLS1 gene HYLS1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hydrolethalus syndrome, 236680 30847515 False 3 0;100;0 1.214 False ENSG00000198331 ENSG00000198331 HGNC:26558 IARS gene IARS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093 30847515 False 3 0;100;0 1.214 False ENSG00000196305 ENSG00000196305 HGNC:5330 IARS2 gene IARS2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, 616007 30847515 False 3 0;100;0 1.214 False ENSG00000067704 ENSG00000067704 HGNC:29685 IBA57 gene IBA57 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 3, 615330;?Spastic paraplegia 74, autosomal recessive, 616451 30847515 False 3 0;100;0 1.214 False ENSG00000181873 ENSG00000181873 HGNC:27302 ICK gene ICK Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Epilepsy, juvenile myoclonic, susceptibility to, 10}, OMIM:617924;Endocrine-cerebroosteodysplasia, OMIM:612651;Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980 30847515 False 3 0;100;0 1.214 False ENSG00000112144 ENSG00000112144 HGNC:21219 ICOS gene ICOS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 1, 607594 30847515 False 3 0;100;0 1.214 False ENSG00000163600 ENSG00000163600 HGNC:5351 IDH2 gene IDH2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown D-2-hydroxyglutaric aciduria 2, 613657 30847515 False 3 0;100;0 1.214 False ENSG00000182054 ENSG00000182054 HGNC:5383 IDS gene IDS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mucopolysaccharidosis II, 309900 30847515 False 3 0;100;0 1.214 False ENSG00000010404 ENSG00000010404 HGNC:5389 IDUA gene IDUA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis Ih/s, 607015;Mucopolysaccharidosis Is, 607016;Mucopolysaccharidosis Ih, 607014 30847515 False 3 0;100;0 1.214 False ENSG00000127415 ENSG00000127415 HGNC:5391 IER3IP1 gene IER3IP1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, epilepsy, and diabetes syndrome, 614231 30847515 False 3 0;100;0 1.214 False ENSG00000134049 ENSG00000134049 HGNC:18550 IFIH1 gene IFIH1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Singleton-Merten syndrome 1, 182250;Aicardi-Goutieres syndrome 7, 615846 30847515 False 3 0;100;0 1.214 False ENSG00000115267 ENSG00000115267 HGNC:18873 IFITM5 gene IFITM5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Osteogenesis imperfecta, type V, 610967 30847515 False 3 0;100;0 1.214 False ENSG00000206013 ENSG00000206013 HGNC:16644 IFNGR1 gene IFNGR1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Immunodeficiency 27A, mycobacteriosis, AR, 209950;Immunodeficiency 27B, mycobacteriosis, AD, 615978 30847515 False 3 0;100;0 1.214 False ENSG00000027697 ENSG00000027697 HGNC:5439 IFNGR2 gene IFNGR2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 28, mycobacteriosis, 614889 30847515 False 3 0;100;0 1.214 False ENSG00000159128 ENSG00000159128 HGNC:5440 IFT122 gene IFT122 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia 1, 218330 30847515 False 3 50;50;0 1.214 False ENSG00000163913 ENSG00000163913 HGNC:13556 IFT140 gene IFT140 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 9 with or without polydactyly, 266920;Retinitis pigmentosa 80, 617781 30847515 False 3 0;100;0 1.214 False ENSG00000187535 ENSG00000187535 HGNC:29077 IFT172 gene IFT172 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 10 with or without polydactyly, 615630;Retinitis pigmentosa 71, 616394 30847515 False 3 0;100;0 1.214 False ENSG00000138002 ENSG00000138002 HGNC:30391 IFT43 gene IFT43 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 18 with polydactyly, 617866;?Cranioectodermal dysplasia 3, 614099;?Retinitis pigmentosa 81, 617871 30847515 False 3 0;100;0 1.214 False ENSG00000119650 ENSG00000119650 HGNC:29669 IFT52 gene IFT52 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102;Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915 30847515 False 3 0;100;0 1.214 False ENSG00000101052 ENSG00000101052 HGNC:15901 IFT80 gene IFT80 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 30847515 False 3 0;100;0 1.214 False ENSG00000068885 ENSG00000068885 HGNC:29262 IFT81 gene IFT81 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 19 with or without polydactyly, 617895 30847515 False 3 0;100;0 1.214 False ENSG00000122970 ENSG00000122970 HGNC:14313 IGF1 gene IGF1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747 30847515 False 3 0;100;0 1.214 False ENSG00000017427 ENSG00000017427 HGNC:5464 IGF1R gene IGF1R Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Insulin-like growth factor I, resistance to, 270450 30847515 False 3 0;100;0 1.214 False ENSG00000140443 ENSG00000140443 HGNC:5465 IGF2 gene IGF2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Beckwith-Wiedemann Syndrome;Chromosome 11p15.5-Related Russell-Silver Syndrome 30847515 False 3 0;100;0 1.214 False ENSG00000167244 ENSG00000167244 HGNC:5466 IGFALS gene IGFALS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Acid-labile subunit, deficiency of, 615961 30847515 False 3 0;100;0 1.214 False ENSG00000099769 ENSG00000099769 HGNC:5468 IGHM gene IGHM Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Agammaglobulinemia 1, 601495 30847515 False 3 0;100;0 1.214 False ENSG00000211899 ENSG00000211899 HGNC:5541 IGHMBP2 gene IGHMBP2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Neuronopathy, distal hereditary motor, type VI, 604320;Charcot-Marie-Tooth disease, axonal, type 2S, 616155 30847515 False 3 0;100;0 1.214 False ENSG00000132740 ENSG00000132740 HGNC:5542 IGKC gene IGKC Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Kappa light chain deficiency, 614102 30847515 False 3 0;100;0 1.214 False ENSG00000211592 ENSG00000211592 HGNC:5716 IGLL1 gene IGLL1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Agammaglobulinemia 2, 613500 30847515 False 3 0;100;0 1.214 False ENSG00000128322 ENSG00000128322 HGNC:5870 IGSF1 gene IGSF1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Hypothyroidism, central, and testicular enlargement, 300888 30847515 False 3 0;100;0 1.214 False ENSG00000147255 ENSG00000147255 HGNC:5948 IHH gene IHH Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Acrocapitofemoral dysplasia, 607778;Brachydactyly, type A1, 112500 30847515 False 3 0;100;0 1.214 False ENSG00000163501 ENSG00000163501 HGNC:5956 IKBKB gene IKBKB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Immunodeficiency 15A, 618204;Immunodeficiency 15B, 615592 30847515 False 3 0;100;0 1.214 False ENSG00000104365 ENSG00000104365 HGNC:5960 IKBKG gene IKBKG Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Invasive pneumococcal disease, recurrent isolated, 2, 300640;Incontinentia pigmenti, 308300;Immunodeficiency 33, 300636;Ectodermal dysplasia and immunodeficiency 1, 300291;Immunodeficiency, isolated, 300584;Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301 30847515 False 3 0;100;0 1.214 False ENSG00000073009 ENSG00000269335 HGNC:5961 IKZF1 gene IKZF1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Immunodeficiency, common variable, 13, 616873 30847515 False 3 0;100;0 1.214 False ENSG00000185811 ENSG00000185811 HGNC:13176 IL10RA gene IL10RA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Inflammatory bowel disease 28, early onset, autosomal recessive, 613148 30847515 False 3 0;100;0 1.214 False ENSG00000110324 ENSG00000110324 HGNC:5964 IL10RB gene IL10RB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Inflammatory bowel disease 25, early onset, autosomal recessive, 612567 30847515 False 3 0;100;0 1.214 False ENSG00000243646 ENSG00000243646 HGNC:5965 IL11RA gene IL11RA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Craniosynostosis and dental anomalies, 614188 30847515 False 3 0;100;0 1.214 False ENSG00000137070 ENSG00000137070 HGNC:5967 IL12B gene IL12B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 29, mycobacteriosis, 614890 30847515 False 3 0;100;0 1.214 False ENSG00000113302 ENSG00000113302 HGNC:5970 IL12RB1 gene IL12RB1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 30, 614891 30847515 False 3 0;100;0 1.214 False ENSG00000096996 ENSG00000096996 HGNC:5971 IL17RA gene IL17RA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 51, 613953 30847515 False 3 0;100;0 1.214 False ENSG00000177663 ENSG00000177663 HGNC:5985 IL17RC gene IL17RC Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Candidiasis, familial, 9, 616445 30847515 False 3 0;100;0 1.214 False ENSG00000163702 ENSG00000163702 HGNC:18358 IL1RAPL1 gene IL1RAPL1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked 21/34, 300143 30847515 False 3 0;100;0 1.214 False ENSG00000169306 ENSG00000169306 HGNC:5996 IL1RN gene IL1RN Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Interleukin 1 receptor antagonist deficiency, OMIM:612852 30847515 False 3 0;100;0 1.214 False ENSG00000136689 ENSG00000136689 HGNC:6000 IL21R gene IL21R Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 56, 615207 30847515 False 3 0;100;0 1.214 False ENSG00000103522 ENSG00000103522 HGNC:6006 IL2RA gene IL2RA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 41 with lymphoproliferation and autoimmunity, 606367 30847515 False 3 0;100;0 1.214 False ENSG00000134460 ENSG00000134460 HGNC:6008 IL2RG gene IL2RG Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Combined immunodeficiency, X-linked, moderate, 312863;Severe combined immunodeficiency, X-linked, 300400 30847515 False 3 0;100;0 1.214 False ENSG00000147168 ENSG00000147168 HGNC:6010 IL36RN gene IL36RN Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Psoriasis 14, pustular, OMIM:614204 30847515 False 3 0;100;0 1.214 False ENSG00000136695 ENSG00000136695 HGNC:15561 IL7R gene IL7R Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 30847515 False 3 0;100;0 1.214 False ENSG00000168685 ENSG00000168685 HGNC:6024 ILDR1 gene ILDR1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 42, 609646 30847515 False 3 0;100;0 1.214 False ENSG00000145103 ENSG00000145103 HGNC:28741 IMPAD1 gene IMPAD1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Chondrodysplasia with joint dislocations, GPAPP type, 614078 30847515 False 3 0;100;0 1.214 False ENSG00000104331 ENSG00000104331 HGNC:26019 INF2 gene INF2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, dominant intermediate E, 614455;Glomerulosclerosis, focal segmental, 5, 613237 30847515 False 3 0;100;0 1.214 False ENSG00000203485 ENSG00000203485 HGNC:23791 INO80 gene INO80 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal INO80 deficiency 30847515 False 3 0;100;0 1.214 False ENSG00000128908 ENSG00000128908 HGNC:26956 INPP5E gene INPP5E Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 1, 213300;Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 30847515 False 3 0;100;0 1.214 False ENSG00000148384 ENSG00000148384 HGNC:21474 INPP5K gene INPP5K Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, with cataracts and intellectual disability, 617404 30847515 False 3 0;100;0 1.214 False ENSG00000132376 ENSG00000132376 HGNC:33882 INPPL1 gene INPPL1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Opsismodysplasia, 258480 30847515 False 3 0;100;0 1.214 False ENSG00000165458 ENSG00000165458 HGNC:6080 INSR gene INSR Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Leprechaunism, 246200;Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549;Rabson-Mendenhall syndrome, 262190;Hyperinsulinemic hypoglycemia, familial, 5, 609968 30847515 False 3 0;100;0 1.214 False ENSG00000171105 ENSG00000171105 HGNC:6091 INTS1 gene INTS1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, 618571 30847515 False 3 0;100;0 1.214 False ENSG00000164880 ENSG00000164880 HGNC:24555 INTU gene INTU Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Short-rib thoracic dysplasia 20 with polydactyly, 617925;?Orofaciodigital syndrome XVII, 617926 30847515 False 3 0;100;0 1.214 False ENSG00000164066 ENSG00000164066 HGNC:29239 INVS gene INVS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 2, infantile, 602088 30847515 False 3 0;100;0 1.214 False ENSG00000119509 ENSG00000119509 HGNC:17870 IQCB1 gene IQCB1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome 5, 609254 30847515 False 3 0;100;0 1.214 False ENSG00000173226 ENSG00000173226 HGNC:28949 IQSEC2 gene IQSEC2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mental retardation, X-linked 1/78, 309530 30847515 False 3 0;100;0 1.214 False ENSG00000124313 ENSG00000124313 HGNC:29059 IRAK4 gene IRAK4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Invasive pneumococcal disease, recurrent isolated, 1, 610799;IRAK4 deficiency, 607676 30847515 False 3 0;100;0 1.214 False ENSG00000198001 ENSG00000198001 HGNC:17967 IRF2BPL gene IRF2BPL Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, 618088 30847515 False 3 0;100;0 1.214 False ENSG00000119669 ENSG00000119669 HGNC:14282 IRF6 gene IRF6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown van der Woude syndrome, 119300;Popliteal pterygium syndrome 1, 119500 30847515 False 3 0;100;0 1.214 False ENSG00000117595 ENSG00000117595 HGNC:6121 IRF8 gene IRF8 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, 226990;Immunodeficiency 32A, mycobacteriosis, autosomal dominant, 614893 30847515 False 3 0;100;0 1.214 False ENSG00000140968 ENSG00000140968 HGNC:5358 IRX5 gene IRX5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hamamy syndrome, 611174 30847515 False 3 0;100;0 1.214 False ENSG00000176842 ENSG00000176842 HGNC:14361 ISCA1 gene ISCA1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 5, 617613 30847515 False 3 0;100;0 1.214 False ENSG00000135070 ENSG00000135070 HGNC:28660 ISCA2 gene ISCA2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 4, 616370 30847515 False 3 0;100;0 1.214 False ENSG00000165898 ENSG00000165898 HGNC:19857 ISCU gene ISCU Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Myopathy with lactic acidosis, hereditary, 255125 30847515 False 3 0;100;0 1.214 False ENSG00000136003 ENSG00000136003 HGNC:29882 ISG15 gene ISG15 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 38, 616126 30847515 False 3 0;100;0 1.214 False ENSG00000187608 ENSG00000187608 HGNC:4053 ISPD gene ISPD Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 30847515 False 3 0;100;0 1.214 False ENSG00000214960 ENSG00000214960 HGNC:37276 ITCH gene ITCH Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Autoimmune disease, multisystem, with facial dysmorphism, 613385 30847515 False 3 0;100;0 1.214 False ENSG00000078747 ENSG00000078747 HGNC:13890 ITGA2B gene ITGA2B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bleeding disorder, platelet-type, 16, autosomal dominant, 187800;Thrombocytopenia, neonatal alloimmune, BAK antigen related;Glanzmann thrombasthenia, 273800 30847515 False 3 0;100;0 1.214 False ENSG00000005961 ENSG00000005961 HGNC:6138 ITGA3 gene ITGA3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, 614748 30847515 False 3 0;100;0 1.214 False ENSG00000005884 ENSG00000005884 HGNC:6139 ITGA6 gene ITGA6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 30847515 False 3 0;100;0 1.214 False ENSG00000091409 ENSG00000091409 HGNC:6142 ITGA7 gene ITGA7 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204 30847515 False 3 0;100;0 1.214 False ENSG00000135424 ENSG00000135424 HGNC:6143 ITGA8 gene ITGA8 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Renal hypodysplasia/aplasia 1, 191830 30847515 False 3 0;100;0 1.214 False ENSG00000077943 ENSG00000077943 HGNC:6144 ITGB2 gene ITGB2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Leukocyte adhesion deficiency, 116920 30847515 False 3 0;100;0 1.214 False ENSG00000160255 ENSG00000160255 HGNC:6155 ITGB3 gene ITGB3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bleeding disorder, platelet-type, 16, autosomal dominant, 187800;Purpura, posttransfusion;Glanzmann thrombasthenia, 273800;Thrombocytopenia, neonatal alloimmune 30847515 False 3 0;100;0 1.214 False ENSG00000259207 ENSG00000259207 HGNC:6156 ITGB4 gene ITGB4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epidermolysis bullosa, junctional, with pyloric atresia, 226730;Epidermolysis bullosa of hands and feet, 131800;Epidermolysis bullosa, junctional, non-Herlitz type, 226650 30847515 False 3 0;100;0 1.214 False ENSG00000132470 ENSG00000132470 HGNC:6158 ITK gene ITK Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Lymphoproliferative syndrome 1, 613011 30847515 False 3 0;100;0 1.214 False ENSG00000113263 ENSG00000113263 HGNC:6171 ITPA gene ITPA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal [Inosine triphosphatase deficiency], 613850;Epileptic encephalopathy, early infantile, 35, 616647 30847515 False 3 0;100;0 1.214 False ENSG00000125877 ENSG00000125877 HGNC:6176 ITPR1 gene ITPR1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spinocerebellar ataxia 15, 606658;Gillespie syndrome, 206700;Spinocerebellar ataxia 29, congenital nonprogressive, 117360 30847515 False 3 0;100;0 1.214 False ENSG00000150995 ENSG00000150995 HGNC:6180 ITSN2 gene ITSN2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome 30847515 False 3 0;100;0 1.214 False ENSG00000198399 ENSG00000198399 HGNC:6184 IVD gene IVD Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Isovaleric acidemia, 243500 30847515 False 3 0;100;0 1.214 False ENSG00000128928 ENSG00000128928 HGNC:6186 JAG1 gene JAG1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alagille syndrome 1, 118450;?Deafness, congenital heart defects, and posterior embryotoxon, 617992;Tetralogy of Fallot, 187500 30847515 False 3 0;100;0 1.214 False ENSG00000101384 ENSG00000101384 HGNC:6188 JAGN1 gene JAGN1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Neutropenia, severe congenital, 6, autosomal recessive, 616022 30847515 False 3 0;100;0 1.214 False ENSG00000171135 ENSG00000171135 HGNC:26926 JAK3 gene JAK3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal SCID, autosomal recessive, T-negative/B-positive type, 600802 30847515 False 3 0;100;0 1.214 False ENSG00000105639 ENSG00000105639 HGNC:6193 JAM3 gene JAM3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 30847515 False 3 0;100;0 1.214 False ENSG00000166086 ENSG00000166086 HGNC:15532 JPH2 gene JPH2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, hypertrophic, 17, 613873 30847515 False 3 0;100;0 1.214 False ENSG00000149596 ENSG00000149596 HGNC:14202 JPH3 gene JPH3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Huntington disease-like 2, OMIM:606438 30847515 False 3 0;100;0 1.214 False ENSG00000154118 ENSG00000154118 HGNC:14203 JUP gene JUP Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arrhythmogenic right ventricular dysplasia 12, 611528;Naxos disease, 601214 30847515 False 3 0;100;0 1.214 False ENSG00000173801 ENSG00000173801 HGNC:6207 KANSL1 gene KANSL1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Koolen-De Vries syndrome, 610443 30847515 False 3 0;100;0 1.214 False ENSG00000120071 ENSG00000120071 HGNC:24565 KARS gene KARS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641;Deafness, autosomal recessive 89, 613916 30847515 False 3 0;100;0 1.214 False ENSG00000065427 ENSG00000065427 HGNC:6215 KAT6A gene KAT6A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 32, 616268 30847515 False 3 0;100;0 1.214 False ENSG00000083168 ENSG00000083168 HGNC:13013 KAT6B gene KAT6B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Genitopatellar syndrome, 606170;SBBYSS syndrome, 603736 30847515 False 3 0;100;0 1.214 False ENSG00000156650 ENSG00000156650 HGNC:17582 KATNB1 gene KATNB1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Lissencephaly 6, with microcephaly, OMIM:616212, MONDO:0014534 30847515 False 3 0;100;0 1.214 False ENSG00000140854 ENSG00000140854 HGNC:6217 KBTBD13 gene KBTBD13 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Nemaline myopathy 6, autosomal dominant, 609273 30847515 False 3 0;100;0 1.214 False ENSG00000234438 ENSG00000234438 HGNC:37227 KCNA1 gene KCNA1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Episodic ataxia/myokymia syndrome, 160120 30847515 False 3 0;100;0 1.214 False ENSG00000111262 ENSG00000111262 HGNC:6218 KCNA2 gene KCNA2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 32, 616366 30847515 False 3 0;100;0 1.214 False ENSG00000177301 ENSG00000177301 HGNC:6220 KCNB1 gene KCNB1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 26, 616056 30847515 False 3 0;100;0 1.214 False ENSG00000158445 ENSG00000158445 HGNC:6231 KCNC1 gene KCNC1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy, progressive myoclonic 7, 616187 30847515 False 3 0;100;0 1.214 False ENSG00000129159 ENSG00000129159 HGNC:6233 KCNC3 gene KCNC3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 13, 605259 30847515 False 3 0;100;0 1.214 False ENSG00000131398 ENSG00000131398 HGNC:6235 KCND3 gene KCND3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brugada syndrome 9, 616399;Spinocerebellar ataxia 19, 607346 30847515 False 3 0;100;0 1.214 False ENSG00000171385 ENSG00000171385 HGNC:6239 KCNE1 gene KCNE1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Long QT syndrome 5, 613695;Jervell and Lange-Nielsen syndrome 2, 612347 30847515 False 3 0;100;0 1.214 False ENSG00000180509 ENSG00000180509 HGNC:6240 KCNH1 gene KCNH1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Zimmermann-Laband syndrome 1, 135500;Temple-Baraitser syndrome, 611816 30847515 False 3 0;100;0 1.214 False ENSG00000143473 ENSG00000143473 HGNC:6250 KCNJ1 gene KCNJ1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 2, 241200 30847515 False 3 0;100;0 1.214 False ENSG00000151704 ENSG00000151704 HGNC:6255 KCNJ10 gene KCNJ10 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Enlarged vestibular aqueduct, digenic, 600791;SESAME syndrome, 612780 30847515 False 3 0;100;0 1.214 False ENSG00000177807 ENSG00000177807 HGNC:6256 KCNJ11 gene KCNJ11 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Diabetes mellitus, transient neonatal, 3, 610582;Maturity-onset diabetes of the young, type 13, 616329;Diabetes, permanent neonatal, with or without neurologic features, 606176;Hyperinsulinemic hypoglycemia, familial, 2, 601820 30847515 False 3 0;100;0 1.214 False ENSG00000187486 ENSG00000187486 HGNC:6257 KCNJ2 gene KCNJ2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Short QT syndrome 3, OMIM:609622;Short QT syndrome type 3, MONDO:0012314;Atrial fibrillation, familial, 9, OMIM:613980;Atrial fibrillation, familial, 9, MONDO:0013513;Andersen syndrome, OMIM:170390;Andersen-Tawil syndrome, MONDO:0008222 30847515 False 3 0;100;0 1.214 False ENSG00000123700 ENSG00000123700 HGNC:6263 KCNJ6 gene KCNJ6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Keppen-Lubinsky syndrome, 614098 30847515 False 3 0;100;0 1.214 False ENSG00000157542 ENSG00000157542 HGNC:6267 KCNK4 gene KCNK4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome, 618381 30847515 False 3 0;100;0 1.214 False ENSG00000182450 ENSG00000182450 HGNC:6279 KCNK9 gene KCNK9 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Birk-Barel mental retardation dysmorphism syndrome, 612292 30847515 False 3 0;100;0 1.214 False ENSG00000169427 ENSG00000169427 HGNC:6283 KCNMA1 gene KCNMA1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cerebellar atrophy, developmental delay, and seizures, OMIM:617643;Cerebellar atrophy, developmental delay, and seizures, MONDO:0060551;Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, OMIM:609446;Generalized epilepsy-paroxysmal dyskinesia syndrome, MONDO:0012276;Liang-Wang syndrome, OMIM:618729;Liang-Wang syndrome, MONDO:0032886 15937479;26195193;27567911;29545233;31152168;31427379 False 3 0;100;0 1.214 False ENSG00000156113 ENSG00000156113 HGNC:6284 KCNQ1 gene KCNQ1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Short QT syndrome 2, 609621;Atrial fibrillation, familial, 3, 607554;Long QT syndrome 1, 192500;Jervell and Lange-Nielsen syndrome, 220400 30847515 False 3 0;100;0 1.214 False ENSG00000053918 ENSG00000053918 HGNC:6294 KCNQ2 gene KCNQ2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 7, 613720;Seizures, benign neonatal, 1, 121200;Myokymia, 121200 30847515 False 3 0;100;0 1.214 False ENSG00000075043 ENSG00000075043 HGNC:6296 KCNQ3 gene KCNQ3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Seizures, benign neonatal, 2, 121201 30847515 False 3 0;100;0 1.214 False ENSG00000184156 ENSG00000184156 HGNC:6297 KCNQ4 gene KCNQ4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Deafness, autosomal dominant 2A, 600101 30847515 False 3 0;100;0 1.214 False ENSG00000117013 ENSG00000117013 HGNC:6298 KCNQ5 gene KCNQ5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 46, 617601 30847515 False 3 0;100;0 1.214 False ENSG00000185760 ENSG00000185760 HGNC:6299 KCNT1 gene KCNT1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 14, 614959;Epilepsy, nocturnal frontal lobe, 5, 615005 30847515 False 3 0;100;0 1.214 False ENSG00000107147 ENSG00000107147 HGNC:18865 KCTD1 gene KCTD1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Scalp-ear-nipple syndrome, 181270 30847515 False 3 0;100;0 1.214 False ENSG00000134504 ENSG00000134504 HGNC:18249 KCTD3 gene KCTD3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Developmental epileptic encephalopathy 30847515 False 3 0;100;0 1.214 False ENSG00000136636 ENSG00000136636 HGNC:21305 KCTD7 gene KCTD7 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 30847515 False 3 0;100;0 1.214 False ENSG00000243335 ENSG00000243335 HGNC:21957 KDM1A gene KDM1A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cleft palate, psychomotor retardation, and distinctive facial features, 616728 30847515 False 3 0;100;0 1.214 False ENSG00000004487 ENSG00000004487 HGNC:29079 KDM5B gene KDM5B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 65, 618109 30847515 False 3 0;100;0 1.214 False ENSG00000117139 ENSG00000117139 HGNC:18039 KDM5C gene KDM5C Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534 30847515 False 3 0;100;0 1.214 False ENSG00000126012 ENSG00000126012 HGNC:11114 KDM6A gene KDM6A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Kabuki syndrome 2, 300867 30847515 False 3 0;100;0 1.214 False ENSG00000147050 ENSG00000147050 HGNC:12637 KDSR gene KDSR Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Erythrokeratodermia variabilis et progressiva 4, 617526 30847515 False 3 0;100;0 1.214 False ENSG00000119537 ENSG00000119537 HGNC:4021 KIAA0586 gene KIAA0586 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 14 with polydactyly, 616546;Joubert syndrome 23, 616490 30847515 False 3 0;100;0 1.214 False ENSG00000100578 ENSG00000100578 HGNC:19960 KIAA1109 gene KIAA1109 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Alkuraya-Kucinskas syndrome, 617822 30847515 False 3 0;100;0 1.214 False ENSG00000138688 ENSG00000138688 HGNC:26953 KIDINS220 gene KIDINS220 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia, intellectual disability, nystagmus, and obesity, 617296 30847515 False 3 0;100;0 1.214 False ENSG00000134313 ENSG00000134313 HGNC:29508 KIF11 gene KIF11 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, 152950 30847515 False 3 0;100;0 1.214 False ENSG00000138160 ENSG00000138160 HGNC:6388 KIF14 gene KIF14 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly 20, primary, autosomal recessive, OMIM:617914;Microcephaly 20, primary, autosomal recessive, MONDO:0054761;Meckel syndrome 12, OMIM:616258;Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552 30847515 False 3 0;100;0 1.214 False ENSG00000118193 ENSG00000118193 HGNC:19181 KIF1A gene KIF1A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mental retardation, autosomal dominant 9, 614255;Spastic paraplegia 30, autosomal recessive, 610357;Neuropathy, hereditary sensory, type IIC, 614213 30847515 False 3 0;100;0 1.214 False ENSG00000130294 ENSG00000130294 HGNC:888 KIF1BP gene KIF1BP Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Goldberg-Shprintzen megacolon syndrome, 609460 30847515 False 3 0;100;0 1.214 False ENSG00000198954 ENSG00000198954 HGNC:23419 KIF1C gene KIF1C Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 2, autosomal recessive, 611302 30847515 False 3 0;100;0 1.214 False ENSG00000129250 ENSG00000129250 HGNC:6317 KIF21A gene KIF21A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Fibrosis of extraocular muscles, congenital, 1, 135700;Fibrosis of extraocular muscles, congenital, 3B, 135700 30847515 False 3 0;100;0 1.214 False ENSG00000139116 ENSG00000139116 HGNC:19349 KIF22 gene KIF22 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 30847515 False 3 0;100;0 1.214 False ENSG00000079616 ENSG00000079616 HGNC:6391 KIF23 gene KIF23 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal neonatal anemia;Congenital dyserythropoietic anemia type III 30847515 False 3 0;100;0 1.214 False ENSG00000137807 ENSG00000137807 HGNC:6392 KIF2A gene KIF2A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cortical dysplasia, complex, with other brain malformations 3, 615411 30847515 False 3 0;100;0 1.214 False ENSG00000068796 ENSG00000068796 HGNC:6318 KIF5A gene KIF5A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 10, autosomal dominant, 604187;Myoclonus, intractable, neonatal, 617235 30847515 False 3 0;100;0 1.214 False ENSG00000155980 ENSG00000155980 HGNC:6323 KIF5C gene KIF5C Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cortical dysplasia, complex, with other brain malformations 2, 615282 30847515 False 3 0;100;0 1.214 False ENSG00000168280 ENSG00000168280 HGNC:6325 KIF7 gene KIF7 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Acrocallosal syndrome, 200990;?Al-Gazali-Bakalinova syndrome, 607131;Joubert syndrome 12, 200990;?Hydrolethalus syndrome 2, 614120 30847515 False 3 0;100;0 1.214 False ENSG00000166813 ENSG00000166813 HGNC:30497 KIT gene KIT Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Piebaldism, 172800;Mastocytosis, cutaneous, 154800 30847515 False 3 0;100;0 1.214 False ENSG00000157404 ENSG00000157404 HGNC:6342 KLF1 gene KLF1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Blood group--Lutheran inhibitor, 111150;Dyserythropoietic anemia, congenital, type IV, 613673 30847515;24443441;25724378;27282573;28361594;28369821 False 3 67;33;0 1.214 False ENSG00000105610 ENSG00000105610 HGNC:6345 KLHL40 gene KLHL40 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 8, autosomal recessive, 615348 30847515 False 3 0;100;0 1.214 False ENSG00000157119 ENSG00000157119 HGNC:30372 KLHL41 gene KLHL41 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 9, 615731 30847515 False 3 0;100;0 1.214 False ENSG00000239474 ENSG00000239474 HGNC:16905 KLHL7 gene KLHL7 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinitis pigmentosa 42, 612943;Cold-induced sweating syndrome 3, 617055 30847515 False 3 0;100;0 1.214 False ENSG00000122550 ENSG00000122550 HGNC:15646 KLKB1 gene KLKB1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Fletcher factor (prekallikrein) deficiency, 612423 30847515 False 3 0;100;0 1.214 False ENSG00000164344 ENSG00000164344 HGNC:6371 KMT2A gene KMT2A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Leukemia, myeloid/lymphoid or mixed-lineage, 159555;Wiedemann-Steiner syndrome, 605130 30847515 False 3 0;100;0 1.214 False ENSG00000118058 ENSG00000118058 HGNC:7132 KMT2B gene KMT2B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia 28, childhood-onset, 617284 30847515 False 3 0;100;0 1.214 False ENSG00000272333 ENSG00000272333 HGNC:15840 KMT2C gene KMT2C Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Kleefstra syndrome 2, 617768 30847515 False 3 0;100;0 1.214 False ENSG00000055609 ENSG00000055609 HGNC:13726 KMT2D gene KMT2D Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Kabuki syndrome 1, 147920 30847515 False 3 0;100;0 1.214 False ENSG00000167548 ENSG00000167548 HGNC:7133 KMT2E gene KMT2E Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown O'Donnell-Luria-Rodan syndrome, 618512 30847515 False 3 0;100;0 1.214 False ENSG00000005483 ENSG00000005483 HGNC:18541 KMT5B gene KMT5B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 51, 617788 30847515 False 3 0;100;0 1.214 False ENSG00000110066 ENSG00000110066 HGNC:24283 KNG1 gene KNG1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Kininogen deficiency, 228960 30847515 False 3 0;100;0 1.214 False ENSG00000113889 ENSG00000113889 HGNC:6383 KNL1 gene KNL1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly 4, primary, autosomal recessive, OMIM:604321;Microcephaly 4, primary, autosomal recessive, MONDO:0011437 30847515 False 3 0;100;0 1.214 False ENSG00000137812 ENSG00000137812 HGNC:24054 KPTN gene KPTN Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 41, OMIM:615637;macrocephaly-developmental delay syndrome, MONDO:0014289 30847515 False 3 0;100;0 1.214 False ENSG00000118162 ENSG00000118162 HGNC:6404 KRAS gene KRAS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Leukemia, acute myeloid, 601626;Noonan syndrome 3, 609942;RAS-associated autoimmune leukoproliferative disorder, 614470 30847515 False 3 0;100;0 1.214 False ENSG00000133703 ENSG00000133703 HGNC:6407 KRIT1 gene KRIT1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860;Cerebral cavernous malformations-1, 116860;Cavernous malformations of CNS and retina, 116860 30847515 False 3 0;100;0 1.214 False ENSG00000001631 ENSG00000001631 HGNC:1573 KRT14 gene KRT14 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epidermolysis bullosa simplex, Weber-Cockayne type, 131800;Dermatopathia pigmentosa reticularis, 125595;Epidermolysis bullosa simplex, Koebner type, 131900;Naegeli-Franceschetti-Jadassohn syndrome, 161000;Epidermolysis bullosa simplex, Dowling-Meara type, 131760;Epidermolysis bullosa simplex, recessive 1, 601001 30847515 False 3 0;100;0 1.214 False ENSG00000186847 ENSG00000186847 HGNC:6416 KRT16 gene KRT16 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Palmoplantar keratoderma, nonepidermolytic, focal, 613000;Pachyonychia congenita 1, 167200 30847515 False 3 0;100;0 1.214 False ENSG00000186832 ENSG00000186832 HGNC:6423 KRT17 gene KRT17 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pachyonychia congenita 2, 167210;Steatocystoma multiplex, 184500 30847515 False 3 0;100;0 1.214 False ENSG00000128422 ENSG00000128422 HGNC:6427 KRT5 gene KRT5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epidermolysis bullosa simplex, Weber-Cockayne type, 131800;Epidermolysis bullosa simplex, Koebner type, 131900;Epidermolysis bullosa simplex-MCR, 609352;Dowling-Degos disease 1, 179850;Epidermolysis bullosa simplex, Dowling-Meara type, 131760;Epidermolysis bullosa simplex-MP, 131960;Epidermolysis bullosa simplex, recessive 1, 601001 30847515 False 3 0;100;0 1.214 False ENSG00000186081 ENSG00000186081 HGNC:6442 KRT6A gene KRT6A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pachyonychia congenita 3, 615726 30847515 False 3 0;100;0 1.214 False ENSG00000205420 ENSG00000205420 HGNC:6443 KYNU gene KYNU Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Hydroxykynureninuria, 236800;Vertebral, cardiac, renal, and limb defects syndrome 2, 617661 30847515 False 3 0;100;0 1.214 False ENSG00000115919 ENSG00000115919 HGNC:6469 L1CAM gene L1CAM Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Hydrocephalus with Hirschsprung disease, 307000;Corpus callosum, partial agenesis of, 304100;MASA syndrome, 303350;Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000;CRASH syndrome, 303350;Hydrocephalus due to aqueductal stenosis, 307000 30847515 False 3 0;100;0 1.214 False ENSG00000198910 ENSG00000198910 HGNC:6470 L2HGDH gene L2HGDH Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal L-2-hydroxyglutaric aciduria, 236792 30847515 False 3 0;100;0 1.214 False ENSG00000087299 ENSG00000087299 HGNC:20499 LAGE3 gene LAGE3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Galloway-Mowat syndrome 2, X-linked, 301006 30847515 False 3 0;100;0 1.214 False ENSG00000196976 ENSG00000196976 HGNC:26058 LAMA1 gene LAMA1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Poretti-Boltshauser syndrome, 615960 30847515 False 3 0;100;0 1.214 False ENSG00000101680 ENSG00000101680 HGNC:6481 LAMA2 gene LAMA2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 23, 618138;Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 30847515 False 3 0;100;0 1.214 False ENSG00000196569 ENSG00000196569 HGNC:6482 LAMA3 gene LAMA3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, junctional, Herlitz type, 226700;Epidermolysis bullosa, generalized atrophic benign, 226650;Laryngoonychocutaneous syndrome, 245660 30847515 False 3 0;100;0 1.214 False ENSG00000053747 ENSG00000053747 HGNC:6483 LAMB1 gene LAMB1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Lissencephaly 5, 615191 30847515 False 3 0;100;0 1.214 False ENSG00000091136 ENSG00000091136 HGNC:6486 LAMB2 gene LAMB2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199;Pierson syndrome, 609049 30847515 False 3 0;100;0 1.214 False ENSG00000172037 ENSG00000172037 HGNC:6487 LAMB3 gene LAMB3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Amelogenesis imperfecta, type IA, 104530;Epidermolysis bullosa, junctional, Herlitz type, 226700;Epidermolysis bullosa, junctional, non-Herlitz type, 226650 30847515 False 3 0;100;0 1.214 False ENSG00000196878 ENSG00000196878 HGNC:6490 LAMC2 gene LAMC2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, junctional, Herlitz type, 226700;Epidermolysis bullosa, junctional, non-Herlitz type, 226650 30847515 False 3 0;100;0 1.214 False ENSG00000058085 ENSG00000058085 HGNC:6493 LAMC3 gene LAMC3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Cortical malformations, occipital, 614115 30847515 False 3 0;100;0 1.214 False ENSG00000050555 ENSG00000050555 HGNC:6494 LAMP2 gene LAMP2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Danon disease, 300257 30847515 False 3 0;100;0 1.214 False ENSG00000005893 ENSG00000005893 HGNC:6501 LAMTOR2 gene LAMTOR2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency due to defect in MAPBP-interacting protein, 610798 30847515 False 3 0;100;0 1.214 False ENSG00000116586 ENSG00000116586 HGNC:29796 LARGE1 gene LARGE1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 30847515 False 3 0;100;0 1.214 False ENSG00000133424 ENSG00000133424 HGNC:6511 LARP7 gene LARP7 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Alazami syndrome, 615071 30847515 False 3 0;100;0 1.214 False ENSG00000174720 ENSG00000174720 HGNC:24912 LARS2 gene LARS2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 4, OMIM:615300;Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021 30847515 False 3 0;100;0 1.214 False ENSG00000011376 ENSG00000011376 HGNC:17095 LAT gene LAT Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 52, 617514 30847515 False 3 0;100;0 1.214 False ENSG00000213658 ENSG00000213658 HGNC:18874 LBR gene LBR Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Pelger-Huet anomaly with mild skeletal anomalies, 618019;Pelger-Huet anomaly, 169400;?Reynolds syndrome, 613471;Greenberg skeletal dysplasia, 215140 30847515 False 3 0;100;0 1.214 False ENSG00000143815 ENSG00000143815 HGNC:6518 LCAT gene LCAT Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Fish-eye disease, 136120;Norum disease, 245900 30847515 False 3 0;100;0 1.214 False ENSG00000213398 ENSG00000213398 HGNC:6522 LCT gene LCT Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Lactase deficiency, congenital, 223000 30847515 False 3 0;100;0 1.214 False ENSG00000115850 ENSG00000115850 HGNC:6530 LDB3 gene LDB3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, myofibrillar, 4, 609452;Left ventricular noncompaction 3, 601493;Cardiomyopathy, dilated, 1C, with or without LVNC, 601493;Cardiomyopathy, hypertrophic, 24, 601493 30847515 False 3 0;100;0 1.214 False ENSG00000122367 ENSG00000122367 HGNC:15710 LDHA gene LDHA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease XI, 612933 30847515 False 3 0;100;0 1.214 False ENSG00000134333 ENSG00000134333 HGNC:6535 LDLR gene LDLR Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LDL cholesterol level QTL2, 143890;Hypercholesterolemia, familial, 1, 143890 30847515 False 3 0;100;0 1.214 False ENSG00000130164 ENSG00000130164 HGNC:6547 LDLRAP1 gene LDLRAP1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hypercholesterolemia, familial, 4, 603813 30847515 False 3 0;100;0 1.214 False ENSG00000157978 ENSG00000157978 HGNC:18640 LEMD3 gene LEMD3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Buschke-Ollendorff syndrome, 166700;Osteopoikilosis with or without melorheostosis, 166700 30847515 False 3 0;100;0 1.214 False ENSG00000174106 ENSG00000174106 HGNC:28887 LEPR gene LEPR Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Obesity, morbid, due to leptin receptor deficiency, 614963 30847515 False 3 0;100;0 1.214 False ENSG00000116678 ENSG00000116678 HGNC:6554 LFNG gene LFNG Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis 3, autosomal recessive, 609813 30847515 False 3 0;100;0 1.214 False ENSG00000106003 ENSG00000106003 HGNC:6560 LGI1 gene LGI1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy, familial temporal lobe, 1, 600512 30847515 False 3 0;100;0 1.214 False ENSG00000108231 ENSG00000108231 HGNC:6572 LGI4 gene LGI4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 30847515 False 3 0;100;0 1.214 False ENSG00000153902 ENSG00000153902 HGNC:18712 LHFPL5 gene LHFPL5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 67, 610265 30847515 False 3 0;100;0 1.214 False ENSG00000197753 ENSG00000197753 HGNC:21253 LHX3 gene LHX3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Pituitary hormone deficiency, combined, 3, 221750 30847515 False 3 0;100;0 1.214 False ENSG00000107187 ENSG00000107187 HGNC:6595 LHX4 gene LHX4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pituitary hormone deficiency, combined, 4, 262700 30847515 False 3 0;100;0 1.214 False ENSG00000121454 ENSG00000121454 HGNC:21734 LIAS gene LIAS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hyperglycinemia, lactic acidosis, and seizures, 614462 30847515 False 3 0;100;0 1.214 False ENSG00000121897 ENSG00000121897 HGNC:16429 LIFR gene LIFR Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 30847515 False 3 0;100;0 1.214 False ENSG00000113594 ENSG00000113594 HGNC:6597 LIG4 gene LIG4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal LIG4 syndrome, 606593 30847515 False 3 0;100;0 1.214 False ENSG00000174405 ENSG00000174405 HGNC:6601 LINS1 gene LINS1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 27, 614340 30847515 False 3 0;100;0 1.214 False ENSG00000140471 ENSG00000140471 HGNC:30922 LIPA gene LIPA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Wolman disease, 278000;Cholesteryl ester storage disease, 278000 30847515 False 3 0;100;0 1.214 False ENSG00000107798 ENSG00000107798 HGNC:6617 LIPT1 gene LIPT1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Lipoyltransferase 1 deficiency, 616299 30847515 False 3 0;100;0 1.214 False ENSG00000144182 ENSG00000144182 HGNC:29569 LIPT2 gene LIPT2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668 30847515 False 3 0;100;0 1.214 False ENSG00000175536 ENSG00000175536 HGNC:37216 LITAF gene LITAF Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot-Marie-Tooth disease, type 1C, 601098 30847515 False 3 0;100;0 1.214 False ENSG00000189067 ENSG00000189067 HGNC:16841 LMAN1 gene LMAN1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Combined factor V and VIII deficiency, 227300 30847515 False 3 0;100;0 1.214 False ENSG00000074695 ENSG00000074695 HGNC:6631 LMBR1 gene LMBR1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Syndactyly, type IV, 186200;Hypoplastic or aplastic tibia with polydactyly, 188740;Triphalangeal thumb, type I, 174500;Triphalangeal thumb-polysyndactyly syndrome, 174500;Polydactyly, preaxial type II, 174500;Laurin-Sandrow syndrome, 135750;Acheiropody, 200500 30847515 False 3 0;100;0 1.214 False ENSG00000105983 ENSG00000105983 HGNC:13243 LMBRD1 gene LMBRD1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblF type, 277380 30847515 False 3 0;100;0 1.214 False ENSG00000168216 ENSG00000168216 HGNC:23038 LMNA gene LMNA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Malouf syndrome, 212112;Hutchinson-Gilford progeria, 176670;Lipodystrophy, familial partial, type 2, 151660;Emery-Dreifuss muscular dystrophy 3, autosomal recessive, 616516;Heart-hand syndrome, Slovenian type, 610140;Cardiomyopathy, dilated, 1A, 115200;Emery-Dreifuss muscular dystrophy 2, autosomal dominant, 181350;Muscular dystrophy, congenital, 613205;Restrictive dermopathy, lethal, 275210;Charcot-Marie-Tooth disease, type 2B1, 605588;Mandibuloacral dysplasia, 248370 30847515 False 3 0;100;0 1.214 False ENSG00000160789 ENSG00000160789 HGNC:6636 LMNB1 gene LMNB1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Leukodystrophy, adult-onset, autosomal dominant, 169500 30847515 False 3 0;100;0 1.214 False ENSG00000113368 ENSG00000113368 HGNC:6637 LMOD3 gene LMOD3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 10, 616165 30847515 False 3 0;100;0 1.214 False ENSG00000163380 ENSG00000163380 HGNC:6649 LMX1B gene LMX1B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Nail-patella syndrome, 161200 30847515 False 3 0;100;0 1.214 False ENSG00000136944 ENSG00000136944 HGNC:6654 LNPK gene LNPK Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, 618090 30847515 False 3 0;100;0 1.214 False ENSG00000144320 ENSG00000144320 HGNC:21610 LONP1 gene LONP1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal CODAS syndrome, 600373 30847515 False 3 0;100;0 1.214 False ENSG00000196365 ENSG00000196365 HGNC:9479 LOXHD1 gene LOXHD1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 77, 613079 30847515 False 3 0;100;0 1.214 False ENSG00000167210 ENSG00000167210 HGNC:26521 LPIN1 gene LPIN1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Myoglobinuria, acute recurrent, autosomal recessive, 268200 30847515 False 3 0;100;0 1.214 False ENSG00000134324 ENSG00000134324 HGNC:13345 LPIN2 gene LPIN2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Majeed syndrome, OMIM:609628 30847515 False 3 0;100;0 1.214 False ENSG00000101577 ENSG00000101577 HGNC:14450 LPL gene LPL Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Lipoprotein lipase deficiency, 238600;Combined hyperlipidemia, familial, 144250 30847515 False 3 0;100;0 1.214 False ENSG00000175445 ENSG00000175445 HGNC:6677 LRBA gene LRBA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 8, with autoimmunity, 614700 30847515 False 3 0;100;0 1.214 False ENSG00000198589 ENSG00000198589 HGNC:1742 LRIG2 gene LRIG2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Urofacial syndrome 2, 615112 30847515 False 3 0;100;0 1.214 False ENSG00000198799 ENSG00000198799 HGNC:20889 LRP2 gene LRP2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Donnai-Barrow syndrome, 222448 30847515 False 3 0;100;0 1.214 False ENSG00000081479 ENSG00000081479 HGNC:6694 LRP4 gene LRP4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Myasthenic syndrome, congenital, 17, 616304;Cenani-Lenz syndactyly syndrome, 212780;Sclerosteosis 2, 614305 30847515 False 3 0;100;0 1.214 False ENSG00000134569 ENSG00000134569 HGNC:6696 LRP5 gene LRP5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal van Buchem disease, type 2, 607636;Osteosclerosis, 144750;Osteoporosis-pseudoglioma syndrome, 259770;Osteopetrosis, autosomal dominant 1, 607634;Exudative vitreoretinopathy 4, 601813;Polycystic liver disease 4 with or without kidney cysts, 617875;Hyperostosis, endosteal, 144750 30847515 False 3 0;100;0 1.214 False ENSG00000162337 ENSG00000162337 HGNC:6697 LRPPRC gene LRPPRC Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Leigh syndrome, French-Canadian type, 220111 30847515 False 3 0;100;0 1.214 False ENSG00000138095 ENSG00000138095 HGNC:15714 LRRC6 gene LRRC6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 19, 614935 30847515 False 3 0;100;0 1.214 False ENSG00000129295 ENSG00000129295 HGNC:16725 LRRK2 gene LRRK2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Parkinson disease 8, Autosomal Dominant, 607060 30847515 False 3 0;100;0 1.214 False ENSG00000188906 ENSG00000188906 HGNC:18618 LRSAM1 gene LRSAM1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, axonal, type 2P, 614436 30847515 False 3 0;100;0 1.214 False ENSG00000148356 ENSG00000148356 HGNC:25135 LRTOMT gene LRTOMT Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 63, 611451 30847515 False 3 0;100;0 1.214 False ENSG00000184154 ENSG00000184154 HGNC:25033 LTBP2 gene LTBP2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Weill-Marchesani syndrome 3, recessive, 614819;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750;Glaucoma 3, primary congenital, D, 613086 30847515 False 3 0;100;0 1.214 False ENSG00000119681 ENSG00000119681 HGNC:6715 LTBP3 gene LTBP3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Geleophysic dysplasia 3, 617809;Dental anomalies and short stature, 601216 30847515 False 3 0;100;0 1.214 False ENSG00000168056 ENSG00000168056 HGNC:6716 LTBP4 gene LTBP4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IC, 613177 30847515 False 3 0;100;0 1.214 False ENSG00000090006 ENSG00000090006 HGNC:6717 LYRM7 gene LYRM7 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 8, 615838 30847515 False 3 0;100;0 1.214 False ENSG00000186687 ENSG00000186687 HGNC:28072 LYST gene LYST Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Chediak-Higashi syndrome, 214500 30847515 False 3 0;100;0 1.214 False ENSG00000143669 ENSG00000143669 HGNC:1968 LZTFL1 gene LZTFL1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 17, 615994 30847515 False 3 0;100;0 1.214 False ENSG00000163818 ENSG00000163818 HGNC:6741 LZTR1 gene LZTR1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Noonan syndrome 10, 616564;Noonan syndrome 2, 605275 30847515 False 3 0;100;0 1.214 False ENSG00000099949 ENSG00000099949 HGNC:6742 MAB21L1 gene MAB21L1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar, ocular, craniofacial, and genital syndrome, 618479 30847515 False 3 0;100;0 1.214 False ENSG00000180660 ENSG00000180660 HGNC:6757 MAB21L2 gene MAB21L2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Microphthalmia/coloboma and skeletal dysplasia syndrome, 615877 30847515 False 3 0;100;0 1.214 False ENSG00000181541 ENSG00000181541 HGNC:6758 MACF1 gene MACF1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lissencephaly 9 with complex brainstem malformation, 618325 30847515 False 3 0;100;0 1.214 False ENSG00000127603 ENSG00000127603 HGNC:13664 MAF gene MAF Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ayme-Gripp syndrome, 601088;Cataract 21, multiple types, 610202 30847515 False 3 0;100;0 1.214 False ENSG00000178573 ENSG00000178573 HGNC:6776 MAFB gene MAFB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Multicentric carpotarsal osteolysis syndrome, 166300;Duane retraction syndrome 3, 617041 30847515 False 3 0;100;0 1.214 False ENSG00000204103 ENSG00000204103 HGNC:6408 MAGEL2 gene MAGEL2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Schaaf-Yang syndrome, 615547 30847515 False 3 0;100;0 1.214 False ENSG00000254585 ENSG00000254585 HGNC:6814 MAGI2 gene MAGI2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 15, 617609 30847515 False 3 0;100;0 1.214 False ENSG00000187391 ENSG00000187391 HGNC:18957 MAGT1 gene MAGT1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, 300853;Congenital disorder of glycosylation, type Icc, 301031 30847515 False 3 0;100;0 1.214 False ENSG00000102158 ENSG00000102158 HGNC:28880 MALT1 gene MALT1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 12, 615468 30847515 False 3 0;100;0 1.214 False ENSG00000172175 ENSG00000172175 HGNC:6819 MAN1B1 gene MAN1B1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 15, 614202 30847515 False 3 0;100;0 1.214 False ENSG00000177239 ENSG00000177239 HGNC:6823 MAN2B1 gene MAN2B1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mannosidosis, alpha-, types I and II, 248500 30847515 False 3 0;100;0 1.214 False ENSG00000104774 ENSG00000104774 HGNC:6826 MANBA gene MANBA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mannosidosis, beta, 248510 30847515 False 3 0;100;0 1.214 False ENSG00000109323 ENSG00000109323 HGNC:6831 MAOA gene MAOA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Brunner syndrome, 300615 30847515 False 3 0;100;0 1.214 False ENSG00000189221 ENSG00000189221 HGNC:6833 MAP2K1 gene MAP2K1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiofaciocutaneous syndrome 3, 615279 30847515 False 3 0;100;0 1.214 False ENSG00000169032 ENSG00000169032 HGNC:6840 MAP2K2 gene MAP2K2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiofaciocutaneous syndrome 4, 615280 30847515 False 3 0;100;0 1.214 False ENSG00000126934 ENSG00000126934 HGNC:6842 MAP3K1 gene MAP3K1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 46XY sex reversal 6, 613762 30847515 False 3 0;100;0 1.214 False ENSG00000095015 ENSG00000095015 HGNC:6848 MAP3K20 gene MAP3K20 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Centronuclear myopathy 6 with fiber-type disproportion, OMIM:617760;Myopathy, centronuclear, 6, with fiber-type disproportion, MONDO:0054695;Split-foot malformation with mesoaxial polydactyly, OMIM:616890;Split-foot malformation-mesoaxial polydactyly syndrome, MONDO:0014816 30847515 False 3 0;100;0 1.214 False ENSG00000091436 ENSG00000091436 HGNC:17797 MAP3K7 gene MAP3K7 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiospondylocarpofacial syndrome, 157800;Frontometaphyseal dysplasia 2, 617137 30847515 False 3 0;100;0 1.214 False ENSG00000135341 ENSG00000135341 HGNC:6859 MAPK8IP3 gene MAPK8IP3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with or without variable brain abnormalities, 618443 30847515 False 3 0;100;0 1.214 False ENSG00000138834 ENSG00000138834 HGNC:6884 MAPKBP1 gene MAPKBP1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 20, 617271 30847515 False 3 0;100;0 1.214 False ENSG00000137802 ENSG00000137802 HGNC:29536 MAPRE2 gene MAPRE2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Symmetric circumferential skin creases, congenital, 2, 616734 30847515;26637975;31903734;31502381 False 3 0;100;0 1.214 False ENSG00000166974 ENSG00000166974 HGNC:6891 MAPT gene MAPT Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Pick disease, 172700;Supranuclear palsy, progressive, 601104;Supranuclear palsy, progressive atypical, 260540;Dementia, frontotemporal, with or without parkinsonism, 600274 30847515 False 3 0;100;0 1.214 False ENSG00000186868 ENSG00000186868 HGNC:6893 MARS2 gene MARS2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 25, 616430;Spastic ataxia 3, autosomal recessive, 611390 30847515 False 3 0;100;0 1.214 False ENSG00000247626 ENSG00000247626 HGNC:25133 MARVELD2 gene MARVELD2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 49, 610153 30847515 False 3 0;100;0 1.214 False ENSG00000152939 ENSG00000152939 HGNC:26401 MASP1 gene MASP1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal 3MC syndrome 1, 257920 30847515 False 3 0;100;0 1.214 False ENSG00000127241 ENSG00000127241 HGNC:6901 MASP2 gene MASP2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal MASP2 deficiency, 613791 30847515 False 3 0;100;0 1.214 False ENSG00000009724 ENSG00000009724 HGNC:6902 MAST1 gene MAST1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, 618273 30847515 False 3 0;100;0 1.214 False ENSG00000105613 ENSG00000105613 HGNC:19034 MAT1A gene MAT1A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Methionine adenosyltransferase deficiency, autosomal recessive, 250850;Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 30847515 False 3 0;100;0 1.214 False ENSG00000151224 ENSG00000151224 HGNC:6903 MATN3 gene MATN3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epiphyseal dysplasia, multiple, 5, 607078;?Spondyloepimetaphyseal dysplasia, 608728 30847515 False 3 0;100;0 1.214 False ENSG00000132031 ENSG00000132031 HGNC:6909 MATR3 gene MATR3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyotrophic lateral sclerosis 21, 606070 30847515 False 3 0;100;0 1.214 False ENSG00000015479 ENSG00000015479 HGNC:6912 MBD5 gene MBD5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 1, 156200 30847515 False 3 0;100;0 1.214 False ENSG00000204406 ENSG00000204406 HGNC:20444 MBOAT7 gene MBOAT7 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 57, 617188 30847515 False 3 0;100;0 1.214 False ENSG00000125505 ENSG00000125505 HGNC:15505 MBTPS2 gene MBTPS2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Keratosis follicularis spinulosa decalvans, X-linked, 308800;Osteogenesis imperfecta, type XIX, 301014;?Olmsted syndrome, X-linked, 300918;IFAP syndrome with or without BRESHECK syndrome, 308205 30847515 False 3 0;100;0 1.214 False ENSG00000012174 ENSG00000012174 HGNC:15455 MC2R gene MC2R Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200 30847515 False 3 0;100;0 1.214 False ENSG00000185231 ENSG00000185231 HGNC:6930 MCCC1 gene MCCC1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 30847515 False 3 0;100;0 1.214 False ENSG00000078070 ENSG00000078070 HGNC:6936 MCCC2 gene MCCC2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal 3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 30847515 False 3 0;100;0 1.214 False ENSG00000131844 ENSG00000131844 HGNC:6937 MCEE gene MCEE Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Methylmalonyl-CoA epimerase deficiency, 251120 30847515 False 3 0;100;0 1.214 False ENSG00000124370 ENSG00000124370 HGNC:16732 MCFD2 gene MCFD2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Factor V and factor VIII, combined deficiency of, 613625 30847515 False 3 0;100;0 1.214 False ENSG00000180398 ENSG00000180398 HGNC:18451 MCM3AP gene MCM3AP Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124 30847515 False 3 0;100;0 1.214 False ENSG00000160294 ENSG00000160294 HGNC:6946 MCM4 gene MCM4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 54, 609981 30847515 False 3 0;100;0 1.214 False ENSG00000104738 ENSG00000104738 HGNC:6947 MCOLN1 gene MCOLN1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mucolipidosis IV, 252650 30847515 False 3 0;100;0 1.214 False ENSG00000090674 ENSG00000090674 HGNC:13356 MCPH1 gene MCPH1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly 1, primary, autosomal recessive, 251200 30847515 False 3 0;100;0 1.214 False ENSG00000147316 ENSG00000147316 HGNC:6954 MDH2 gene MDH2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 51, 617339 30847515 False 3 0;100;0 1.214 False ENSG00000146701 ENSG00000146701 HGNC:6971 MECOM gene MECOM Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, 616738 30847515 False 3 0;100;0 1.214 False ENSG00000085276 ENSG00000085276 HGNC:3498 MECP2 gene MECP2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Rett syndrome, 312750;Mental retardation, X-linked syndromic, Lubs type, 300260;Rett syndrome, atypical, 312750;Rett syndrome, preserved speech variant, 312750;Encephalopathy, neonatal severe, 300673;Mental retardation, X-linked, syndromic 13, 300055 30847515 False 3 0;100;0 1.214 False ENSG00000169057 ENSG00000169057 HGNC:6990 MECR gene MECR Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282 30847515 False 3 0;100;0 1.214 False ENSG00000116353 ENSG00000116353 HGNC:19691 MED12 gene MED12 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Ohdo syndrome, X-linked, 300895;Opitz-Kaveggia syndrome, 305450;Lujan-Fryns syndrome, 309520 30847515 False 3 0;100;0 1.214 False ENSG00000184634 ENSG00000184634 HGNC:11957 MED13L gene MED13L Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation and distinctive facial features with or without cardiac defects, 616789;Transposition of the great arteries, dextro-looped 1, 608808 30847515 False 3 0;100;0 1.214 False ENSG00000123066 ENSG00000123066 HGNC:22962 MED17 gene MED17 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 30847515 False 3 0;100;0 1.214 False ENSG00000042429 ENSG00000042429 HGNC:2375 MED23 gene MED23 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 18, 614249 30847515 False 3 0;100;0 1.214 False ENSG00000112282 ENSG00000112282 HGNC:2372 MEF2C gene MEF2C Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443;Chromosome 5q14.3 deletion syndrome, 613443 30847515 False 3 0;100;0 1.214 False ENSG00000081189 ENSG00000081189 HGNC:6996 MEFV gene MEFV Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Familial Mediterranean fever, AD, OMIM:134610;Familial Mediterranean fever, AR, OMIM:249100 30847515 False 3 0;100;0 1.214 False ENSG00000103313 ENSG00000103313 HGNC:6998 MEGF10 gene MEGF10 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399;Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, 614399 30847515 False 3 0;100;0 1.214 False ENSG00000145794 ENSG00000145794 HGNC:29634 MEGF8 gene MEGF8 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Carpenter syndrome 2, 614976 30847515 False 3 0;100;0 1.214 False ENSG00000105429 ENSG00000105429 HGNC:3233 MEIS2 gene MEIS2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cleft palate, cardiac defects, and mental retardation, OMIM:600987;Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies, MONDO:0010970 30847515 False 3 0;100;0 1.214 False ENSG00000134138 ENSG00000134138 HGNC:7001 MEOX1 gene MEOX1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Klippel-Feil syndrome 2, 214300 30847515 False 3 0;100;0 1.214 False ENSG00000005102 ENSG00000005102 HGNC:7013 MESP2 gene MESP2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis 2, autosomal recessive, 608681 30847515 False 3 0;100;0 1.214 False ENSG00000188095 ENSG00000188095 HGNC:29659 METTL23 gene METTL23 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 44, 615942 30847515 False 3 0;100;0 1.214 False ENSG00000181038 ENSG00000181038 HGNC:26988 MFF gene MFF Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086 30847515 False 3 0;100;0 1.214 False ENSG00000168958 ENSG00000168958 HGNC:24858 MFN2 gene MFN2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hereditary motor and sensory neuropathy VIA, 601152;Charcot-Marie-Tooth disease, axonal, type 2A2A, 609260;Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 30847515 False 3 0;100;0 1.214 False ENSG00000116688 ENSG00000116688 HGNC:16877 MFRP gene MFRP Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Microphthalmia, isolated 5, 611040;Nanophthalmos 2, 609549 30847515 False 3 0;100;0 1.214 False ENSG00000235718 ENSG00000235718 HGNC:18121 MFSD2A gene MFSD2A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities, 616486 30847515 False 3 0;100;0 1.214 False ENSG00000168389 ENSG00000168389 HGNC:25897 MFSD8 gene MFSD8 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 7, 610951;Macular dystrophy with central cone involvement, 616170 30847515 False 3 0;100;0 1.214 False ENSG00000164073 ENSG00000164073 HGNC:28486 MGAT2 gene MGAT2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIa, 212066 30847515 False 3 0;100;0 1.214 False ENSG00000168282 ENSG00000168282 HGNC:7045 MGME1 gene MGME1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 11, 615084 30847515 False 3 0;100;0 1.214 False ENSG00000125871 ENSG00000125871 HGNC:16205 MGP gene MGP Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Keutel syndrome, 245150 30847515 False 3 0;100;0 1.214 False ENSG00000111341 ENSG00000111341 HGNC:7060 MICU1 gene MICU1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Myopathy with extrapyramidal signs, 615673 30847515 False 3 0;100;0 1.214 False ENSG00000107745 ENSG00000107745 HGNC:1530 MID1 gene MID1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Opitz GBBB syndrome, type I, 300000 30847515 False 3 0;100;0 1.214 False ENSG00000101871 ENSG00000101871 HGNC:7095 MIPEP gene MIPEP Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 31, 617228 30847515 False 3 0;100;0 1.214 False ENSG00000027001 ENSG00000027001 HGNC:7104 MITF gene MITF Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Waardenburg syndrome, type 2A, 193510;Tietz albinism-deafness syndrome, 103500;Waardenburg syndrome/ocular albinism, digenic, 103470;COMMAD syndrome, 617306 30847515 False 3 0;100;0 1.214 False ENSG00000187098 ENSG00000187098 HGNC:7105 MKKS gene MKKS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal McKusick-Kaufman syndrome, 236700;Bardet-Biedl syndrome 6, 605231 30847515 False 3 0;100;0 1.214 False ENSG00000125863 ENSG00000125863 HGNC:7108 MKS1 gene MKS1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 13, 615990;Joubert syndrome 28, 617121;Meckel syndrome 1, 249000 30847515 False 3 0;100;0 1.214 False ENSG00000011143 ENSG00000011143 HGNC:7121 MLC1 gene MLC1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Megalencephalic leukoencephalopathy with subcortical cysts, 604004 30847515 False 3 0;100;0 1.214 False ENSG00000100427 ENSG00000100427 HGNC:17082 MLYCD gene MLYCD Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Malonyl-CoA decarboxylase deficiency, 248360 30847515 False 3 0;100;0 1.214 False ENSG00000103150 ENSG00000103150 HGNC:7150 MMAA gene MMAA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria, vitamin B12-responsive, 251100 30847515 False 3 0;100;0 1.214 False ENSG00000151611 ENSG00000151611 HGNC:18871 MMAB gene MMAB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 30847515 False 3 0;100;0 1.214 False ENSG00000139428 ENSG00000139428 HGNC:19331 MMACHC gene MMACHC Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblC type, 277400 30847515 False 3 0;100;0 1.214 False ENSG00000132763 ENSG00000132763 HGNC:24525 MMADHC gene MMADHC Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Homocystinuria, cblD type, variant 1, 277410;Methylmalonic aciduria, cblD type, variant 2, 277410;Methylmalonic aciduria and homocystinuria, cblD type, 277410 30847515 False 3 0;100;0 1.214 False ENSG00000168288 ENSG00000168288 HGNC:25221 MMP13 gene MMP13 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Metaphyseal dysplasia, Spahr type, 250400;Spondyloepimetaphyseal dysplasia, Missouri type, 602111;Metaphyseal anadysplasia 1, 602111 30847515 False 3 0;100;0 1.214 False ENSG00000137745 ENSG00000137745 HGNC:7159 MMP2 gene MMP2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Multicentric osteolysis, nodulosis, and arthropathy, 259600 30847515 False 3 0;100;0 1.214 False ENSG00000087245 ENSG00000087245 HGNC:7166 MMP21 gene MMP21 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Heterotaxy, visceral, 7, autosomal, 616749 30847515 False 3 0;100;0 1.214 False ENSG00000154485 ENSG00000154485 HGNC:14357 MNX1 gene MNX1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Currarino syndrome, 176450 30847515 False 3 0;100;0 1.214 False ENSG00000130675 ENSG00000130675 HGNC:4979 MOCS1 gene MOCS1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Molybdenum cofactor deficiency A, 252150 30847515 False 3 0;100;0 1.214 False ENSG00000124615 ENSG00000124615 HGNC:7190 MOCS2 gene MOCS2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Molybdenum cofactor deficiency B, 252160 30847515 False 3 0;100;0 1.214 False ENSG00000164172 ENSG00000164172 HGNC:7193 MOGS gene MOGS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIb, 606056 30847515 False 3 0;100;0 1.214 False ENSG00000115275 ENSG00000115275 HGNC:24862 MORC2 gene MORC2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot-Marie-Tooth disease, axonal, type 2Z, 616688 30847515 False 3 0;100;0 1.214 False ENSG00000133422 ENSG00000133422 HGNC:23573 MPC1 gene MPC1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial pyruvate carrier deficiency, 614741 30847515 False 3 0;100;0 1.214 False ENSG00000060762 ENSG00000060762 HGNC:21606 MPDU1 gene MPDU1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type If, 609180 30847515 False 3 0;100;0 1.214 False ENSG00000129255 ENSG00000129255 HGNC:7207 MPI gene MPI Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ib, OMIM:602579;MPI-CDG, MONDO:0011257 12414827;9585601;10980531;33098580;33204592;32905087;32266963;30242110 False 3 0;100;0 1.214 False ENSG00000178802 ENSG00000178802 HGNC:7216 MPIG6B gene MPIG6B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Thrombocytopenia, anemia, and myelofibrosis, 617441 30847515 False 3 0;100;0 1.214 False ENSG00000204420 ENSG00000204420 HGNC:13937 MPL gene MPL Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Thrombocytopenia, congenital amegakaryocytic, 604498;Thrombocythemia 2, 601977 30847515 False 3 0;100;0 1.214 False ENSG00000117400 ENSG00000117400 HGNC:7217 MPLKIP gene MPLKIP Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 4, nonphotosensitive, 234050 30847515 False 3 0;100;0 1.214 False ENSG00000168303 ENSG00000168303 HGNC:16002 MPO gene MPO Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Myeloperoxidase deficiency, 254600 30847515 False 3 0;100;0 1.214 False ENSG00000005381 ENSG00000005381 HGNC:7218 MPV17 gene MPV17 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, axonal, type 2EE, 618400;Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 30847515 False 3 0;100;0 1.214 False ENSG00000115204 ENSG00000115204 HGNC:7224 MPZ gene MPZ Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 2I, 607677;Dejerine-Sottas disease, 145900;Charcot-Marie-Tooth disease, type 2J, 607736;Roussy-Levy syndrome, 180800;Charcot-Marie-Tooth disease, type 1B, 118200;Hypomyelinating neuropathy, congenital, 2, 618184;Charcot-Marie-Tooth disease, dominant intermediate D, 607791 30847515 False 3 0;100;0 1.214 False ENSG00000158887 ENSG00000158887 HGNC:7225 MRE11 gene MRE11 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ataxia-telangiectasia-like disorder 1, 604391 30847515 False 3 0;100;0 1.214 False ENSG00000020922 ENSG00000020922 HGNC:7230 MRPL3 gene MRPL3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 9, 614582 30847515 False 3 0;100;0 1.214 False ENSG00000114686 ENSG00000114686 HGNC:10379 MRPS2 gene MRPS2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 36, 617950 30847515 False 3 0;100;0 1.214 False ENSG00000122140 ENSG00000122140 HGNC:14495 MRPS22 gene MRPS22 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ovarian dysgenesis 7, 618117;Combined oxidative phosphorylation deficiency 5, 611719 30847515 False 3 0;100;0 1.214 False ENSG00000175110 ENSG00000175110 HGNC:14508 MRPS34 gene MRPS34 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 32, 617664 30847515 False 3 0;100;0 1.214 False ENSG00000074071 ENSG00000074071 HGNC:16618 MS4A1 gene MS4A1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 5, 613495 30847515 False 3 0;100;0 1.214 False ENSG00000156738 ENSG00000156738 HGNC:7315 MSH6 gene MSH6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mismatch repair cancer syndrome, 276300;Colorectal cancer, hereditary nonpolyposis, type 5, 614350 30847515 False 3 0;100;0 1.214 False ENSG00000116062 ENSG00000116062 HGNC:7329 MSL3 gene MSL3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mental retardation, X-linked, syndromic, 36, 301032 30847515 False 3 0;100;0 1.214 False ENSG00000005302 ENSG00000005302 HGNC:7370 MSMO1 gene MSMO1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834;Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793 30847515 False 3 0;100;0 1.214 False ENSG00000052802 ENSG00000052802 HGNC:10545 MSN gene MSN Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency 50, 300988 30847515 False 3 0;100;0 1.214 False ENSG00000147065 ENSG00000147065 HGNC:7373 MSTO1 gene MSTO1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, mitochondrial, and ataxia, 617675 30847515;28554942;37431817 False 3 0;100;0 1.214 False ENSG00000125459 ENSG00000125459 HGNC:29678 MSX1 gene MSX1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Tooth agenesis, selective, 1, with or without orofacial cleft, 106600;Ectodermal dysplasia 3, Witkop type, 189500;Orofacial cleft 5, 608874 30847515 False 3 0;100;0 1.214 False ENSG00000163132 ENSG00000163132 HGNC:7391 MSX2 gene MSX2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Parietal foramina with cleidocranial dysplasia, 168550;Craniosynostosis 2, 604757;Parietal foramina 1, 168500 30847515 False 3 0;100;0 1.214 False ENSG00000120149 ENSG00000120149 HGNC:7392 MT-ATP6 gene MT-ATP6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MITOCHONDRIAL LEBER OPTIC ATROPHY;LEIGH SYNDROME;NARP SYNDROME;SEIZURES AND LACTIC ACIDOSIS;BILATERAL STRIATAL NECROSIS 30847515 False 3 0;100;0 1.214 False ENSG00000198899 ENSG00000198899 HGNC:7414 MT-ATP8 gene MT-ATP8 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MITOCHONDRIAL BRAIN PSEUDOATROPHY, REVERSIBLE, VALPROATE-INDUCED, SUSCEPTIBILITY TO;CARDIOMYOPATHY, INFANTILE HYPERTROPHIC;CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY 30847515 False 3 0;100;0 1.214 False ENSG00000228253 ENSG00000228253 HGNC:7415 MT-CO1 gene MT-CO1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MITOCHONDRIAL LEBER OPTIC ATROPHY;CYTOCHROME c OXIDASE DEFICIENCY;MYOGLOBINURIA, RECURRENT;CYTOCHROME c OXIDASE I DEFICIENCY;SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC 30847515 False 3 0;100;0 1.214 False ENSG00000198804 ENSG00000198804 HGNC:7419 MT-CO2 gene MT-CO2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MITOCHONDRIAL CYTOCHROME c OXIDASE DEFICIENCY 30847515 False 3 0;100;0 1.214 False ENSG00000198712 ENSG00000198712 HGNC:7421 MT-CO3 gene MT-CO3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MITOCHONDRIAL LEBER OPTIC ATROPHY;SEIZURES AND LACTIC ACIDOSIS;MITOCHONDRIAL COMPLEX IV DEFICIENCY 30847515 False 3 0;100;0 1.214 False ENSG00000198938 ENSG00000198938 HGNC:7422 MT-CYB gene MT-CYB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MITOCHONDRIAL PARKINSONISM/MELAS OVERLAP SYNDROME;CARDIOMYOPATHY, INFANTILE HISTIOCYTOID;LEBER OPTIC ATROPHY;EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA;EXERCISE INTOLERANCE;ENCEPHALOMYOPATHY, MITOCHONDRIAL;MULTISYSTEM DISORDER 30847515 False 3 0;100;0 1.214 False ENSG00000198727 ENSG00000198727 HGNC:7427 MTFMT gene MTFMT Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 15 OMIM:614947;combined oxidative phosphorylation defect type 15 MONDO:0013987;Mitochondrial complex I deficiency, nuclear type 27 OMIM:618248;mitochondrial complex 1 deficiency, nuclear type 27 MONDO:0032631 30847515 False 3 0;100;0 1.214 False ENSG00000103707 ENSG00000103707 HGNC:29666 MTHFD1 gene MTHFD1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 30847515 False 3 0;100;0 1.214 False ENSG00000100714 ENSG00000100714 HGNC:7432 MTHFR gene MTHFR Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Homocystinuria due to MTHFR deficiency, 236250 30847515 False 3 0;100;0 1.214 False ENSG00000177000 ENSG00000177000 HGNC:7436 MTM1 gene MTM1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Myotubular myopathy, X-linked, 310400 30847515 False 3 0;100;0 1.214 False ENSG00000171100 ENSG00000171100 HGNC:7448 MTMR2 gene MTMR2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4B1, 601382 30847515 False 3 0;100;0 1.214 False ENSG00000087053 ENSG00000087053 HGNC:7450 MT-ND1 gene MT-ND1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MITOCHONDRIAL MELAS;LEBER OPTIC ATROPHY;MITOCHONDRIAL COMPLEX I DEFICIENCY;ALZHEIMER DISEASE;SIDS;DYSTONIA, ADULT-ONSET 30847515 False 3 0;100;0 1.214 False ENSG00000198888 ENSG00000198888 HGNC:7455 MT-ND2 gene MT-ND2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MITOCHONDRIAL LEBER OPTIC ATROPHY;MITOCHONDRIAL COMPLEX I DEFICIENCY;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 30847515 False 3 0;100;0 1.214 False ENSG00000198763 ENSG00000198763 HGNC:7456 MT-ND3 gene MT-ND3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MITOCHONDRIAL MITOCHONDRIAL COMPLEX I DEFICIENCY;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 30847515 False 3 0;100;0 1.214 False ENSG00000198840 ENSG00000198840 HGNC:7458 MT-ND4 gene MT-ND4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MITOCHONDRIAL LEBER OPTIC ATROPHY;LEBER OPTIC ATROPHY AND DYSTONIA;MITOCHONDRIAL COMPLEX I DEFICIENCY;MELAS SYNDROME 30847515 False 3 0;100;0 1.214 False ENSG00000198886 ENSG00000198886 HGNC:7459 MT-ND4L gene MT-ND4L Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MITOCHONDRIAL LEBER OPTIC ATROPHY 30847515 False 3 0;100;0 1.214 False ENSG00000212907 ENSG00000212907 HGNC:7460 MT-ND5 gene MT-ND5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MITOCHONDRIAL LEBER OPTIC ATROPHY;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY;MERRF SYNDROME;MELAS SYNDROME 30847515 False 3 0;100;0 1.214 False ENSG00000198786 ENSG00000198786 HGNC:7461 MT-ND6 gene MT-ND6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MITOCHONDRIAL LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY;LEBER OPTIC ATROPHY;LEBER OPTIC ATROPHY AND DYSTONIA;MELAS SYNDROME;STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA 30847515 False 3 0;100;0 1.214 False ENSG00000198695 ENSG00000198695 HGNC:7462 MTO1 gene MTO1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 10, 614702 30847515 False 3 0;100;0 1.214 False ENSG00000135297 ENSG00000135297 HGNC:19261 MTOR gene MTOR Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Smith-Kingsmore syndrome, 616638 30847515 False 3 0;100;0 1.214 False ENSG00000198793 ENSG00000198793 HGNC:3942 MTR gene MTR Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 30847515 False 3 0;100;0 1.214 False ENSG00000116984 ENSG00000116984 HGNC:7468 MT-RNR1 gene MT-RNR1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MITOCHONDRIAL DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL;CARDIOMYOPATHY, RESTRICTIVE;DEAFNESS, AMINOGLYCOSIDE-INDUCED;AUDITORY NEUROPATHY 30847515 False 3 0;100;0 1.214 False ENSG00000211459 ENSG00000211459 HGNC:7470 MTRR gene MTRR Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Homocystinuria-megaloblastic anemia, cbl E type, 236270 30847515 False 3 0;100;0 1.214 False ENSG00000124275 ENSG00000124275 HGNC:7473 MT-TA gene MT-TA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MITOCHONDRIAL MYOTONIC DYSTROPHY-LIKE MYOPATHY;MITOCHONDRIAL MYOPATHY 30847515 False 3 0;100;0 1.214 False ENSG00000210127 ENSG00000210127 HGNC:7475 MT-TC gene MT-TC Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MITOCHONDRIAL DYSTONIA, MITOCHONDRIAL;MELAS SYNDROME 30847515 False 3 0;100;0 1.214 False ENSG00000210140 ENSG00000210140 HGNC:7477 MT-TD gene MT-TD Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MITOCHONDRIAL MITOCHONDRIAL MYOPATHY, ISOLATED 30847515 False 3 0;100;0 1.214 False ENSG00000210154 ENSG00000210154 HGNC:7478 MT-TE gene MT-TE Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MITOCHONDRIAL MYOPATHY, MITOCHONDRIAL, WITH DIABETES MELLITUS;MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT;DIABETES AND DEAFNESS, MATERNALLY INHERITED 30847515 False 3 0;100;0 1.214 False ENSG00000210194 ENSG00000210194 HGNC:7479 MT-TF gene MT-TF Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MITOCHONDRIAL MYOPATHY, MITOCHONDRIAL, LATE-ONSET;EPILEPSY, MITOCHONDRIAL;NEPHROPATHY, TUBULOINTERSTITIAL;ENCEPHALOPATHY, MITOCHONDRIAL;MELAS SYNDROME;MERRF SYNDROME 30847515 False 3 0;100;0 1.214 False ENSG00000210049 ENSG00000210049 HGNC:7481 MT-TG gene MT-TG Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MITOCHONDRIAL EXERCISE INTOLERANCE;CARDIOMYOPATHY, HYPERTROPHIC;SUDDEN DEATH 30847515 False 3 0;100;0 1.214 False ENSG00000210164 ENSG00000210164 HGNC:7486 MT-TH gene MT-TH Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MITOCHONDRIAL DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL;PIGMENTARY RETINOPATHY AND SENSORINEURAL DEAFNESS;CARDIOMYOPATHY, IDIOPATHIC DILATED, MITOCHONDRIAL;MERRF/MELAS OVERLAP SYNDROME 30847515 False 3 0;100;0 1.214 False ENSG00000210176 ENSG00000210176 HGNC:7487 MT-TI gene MT-TI Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MITOCHONDRIAL CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC;HYPERTENSION, HYPERCHOLESTEROLEMIA, AND HYPOMAGNESEMIA, MITOCHONDRIAL;ENCEPHALOPATHY, FAMILIAL PROGRESSIVE NECROTIZING;CARDIOMYOPATHY, FATAL;CARDIOMYOPATHY, FATAL INFANTILE;MULTISYSTEM DISORDER 30847515 False 3 0;100;0 1.214 False ENSG00000210100 ENSG00000210100 HGNC:7488 MT-TK gene MT-TK Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MITOCHONDRIAL DIABETES AND DEAFNESS, MATERNALLY INHERITED;PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOCLONUS;MERRF SYNDROME;MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME 30847515 False 3 0;100;0 1.214 False ENSG00000210156 ENSG00000210156 HGNC:7489 MT-TL1 gene MT-TL1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MITOCHONDRIAL MELAS SYNDROME 30847515 False 3 0;100;0 1.214 False ENSG00000209082 ENSG00000209082 HGNC:7490 MT-TL2 gene MT-TL2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MITOCHONDRIAL MYOPATHY, MITOCHONDRIAL;ENCEPHALOMYOPATHY, MITOCHONDRIAL;CARDIOMYOPATHY, MITOCHONDRIAL 30847515 False 3 0;100;0 1.214 False ENSG00000210191 ENSG00000210191 HGNC:7491 MT-TM gene MT-TM Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MITOCHONDRIAL MYOPATHY, MITOCHONDRIAL 30847515 False 3 0;100;0 1.214 False ENSG00000210112 ENSG00000210112 HGNC:7492 MT-TN gene MT-TN Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MITOCHONDRIAL MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 2;OPHTHALMOPLEGIA, ISOLATED 30847515 False 3 0;100;0 1.214 False ENSG00000210135 ENSG00000210135 HGNC:7493 MTTP gene MTTP Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Abetalipoproteinemia, 200100 30847515 False 3 0;100;0 1.214 False ENSG00000138823 ENSG00000138823 HGNC:7467 MT-TP gene MT-TP Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MITOCHONDRIAL MYOPATHY;MERFF SYNDROME 30847515 False 3 0;100;0 1.214 False ENSG00000210196 ENSG00000210196 HGNC:7494 MT-TQ gene MT-TQ Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MITOCHONDRIAL MYOPATHY;SENSORINEURAL DEAFNESS AND MIGRAINE;MELAS SYNDROME 30847515 False 3 0;100;0 1.214 False ENSG00000210107 ENSG00000210107 HGNC:7495 MT-TR gene MT-TR Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MITOCHONDRIAL ENCEPHALOMYOPATHY, MITOCHONDRIAL 30847515 False 3 0;100;0 1.214 False ENSG00000210174 ENSG00000210174 HGNC:7496 MT-TS1 gene MT-TS1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MITOCHONDRIAL MITOCHONDRIAL CYTOCHROME c OXIDASE DEFICIENCY;KERATODERMA, PALMOPLANTAR, WITH DEAFNESS;MERRF/MELAS OVERLAP SYNDROME 30847515 False 3 0;100;0 1.214 False ENSG00000210151 ENSG00000210151 HGNC:7497 MT-TS2 gene MT-TS2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MITOCHONDRIAL CEREBELLAR ATAXIA, CATARACT, AND DIABETES MELLITUS;MERRF/MELAS OVERLAP SYNDROME 30847515 False 3 0;100;0 1.214 False ENSG00000210184 ENSG00000210184 HGNC:7498 MT-TV gene MT-TV Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MITOCHONDRIAL NEONATAL DEATH;ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS 30847515 False 3 0;100;0 1.214 False ENSG00000210077 ENSG00000210077 HGNC:7500 MT-TW gene MT-TW Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MITOCHONDRIAL MYOPATHY, MITOCHONDRIAL;ENCEPHALOPATHY, MITOCHONDRIAL;NEUROGASTROINTESTINAL SYNDROME, MITOCHONDRIAL;ENCEPHALOCARDIOMYOPATHY, MITOCHONDRIAL;ENCEPHALOMYOPATHY, MITOCHONDRIAL 30847515 False 3 0;100;0 1.214 False ENSG00000210117 ENSG00000210117 HGNC:7501 MT-TY gene MT-TY Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MITOCHONDRIAL FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND DILATED CARDIOMYOPATHY;CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOPATHY, SOMATIC;EXERCISE INTOLERANCE AND COMPLEX III DEFICIENCY, SOMATIC 30847515 False 3 0;100;0 1.214 False ENSG00000210144 ENSG00000210144 HGNC:7502 MUC1 gene MUC1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Medullary cystic kidney disease 1, 174000 30847515 False 3 0;100;0 1.214 False ENSG00000185499 ENSG00000185499 HGNC:7508 MUSK gene MUSK Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Fetal akinesia deformation sequence 1, 208150;Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 30847515 False 3 0;100;0 1.214 False ENSG00000030304 ENSG00000030304 HGNC:7525 MUT gene MUT Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria, mut(0) type, 251000 30847515 False 3 0;100;0 1.214 False ENSG00000146085 ENSG00000146085 HGNC:7526 MVK gene MVK Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyper-IgD syndrome, OMIM:260920;Mevalonic aciduria, OMIM:610377;Porokeratosis 3, multiple types, OMIM:175900 30847515 False 3 0;100;0 1.214 False ENSG00000110921 ENSG00000110921 HGNC:7530 MYBPC1 gene MYBPC1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arthrogryposis, distal, type 1B, 614335;Lethal congenital contracture syndrome 4, 614915;Myopathy, congenital, with tremor, 618524 30847515 False 3 0;100;0 1.214 False ENSG00000196091 ENSG00000196091 HGNC:7549 MYCN gene MYCN Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Feingold syndrome 1, 164280 30847515 False 3 0;100;0 1.214 False ENSG00000134323 ENSG00000134323 HGNC:7559 MYD88 gene MYD88 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, 612260 30847515 False 3 0;100;0 1.214 False ENSG00000172936 ENSG00000172936 HGNC:7562 MYH10 gene MYH10 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown aqueductal stenosis;MYH10-related Multiple congenital anomalies;Bilateral ventriculomegaly 30847515 False 3 0;100;0 1.214 False ENSG00000133026 ENSG00000133026 HGNC:7568 MYH14 gene MYH14 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369;Deafness, autosomal dominant 4A, 600652 30847515 False 3 0;100;0 1.214 False ENSG00000105357 ENSG00000105357 HGNC:23212 MYH2 gene MYH2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Proximal myopathy and ophthalmoplegia, OMIM:605637;Myopathy, proximal, and ophthalmoplegia, MONDO:0011577 30847515 False 3 0;100;0 1.214 False ENSG00000125414 ENSG00000125414 HGNC:7572 MYH3 gene MYH3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Contractures, pterygia, and variable skeletal fusions syndrome 1B, 618469;Arthrogryposis, distal, type 2B3 (Sheldon-Hall), 618436;Arthrogryposis, distal, type 2A (Freeman-Sheldon), 193700;Contractures, pterygia, and variable skeletal fusions syndrome 1A, 178110 30847515 False 3 0;100;0 1.214 False ENSG00000109063 ENSG00000109063 HGNC:7573 MYH6 gene MYH6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, hypertrophic, 14, 613251;Cardiomyopathy, dilated, 1EE, 613252;Atrial septal defect 3, 614089 30847515 False 3 0;100;0 1.214 False ENSG00000197616 ENSG00000197616 HGNC:7576 MYH7 gene MYH7 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Laing distal myopathy, 160500;Myopathy, myosin storage, autosomal dominant, 608358;Myopathy, myosin storage, autosomal recessive, 255160;Cardiomyopathy, hypertrophic, 1, 192600;Left ventricular noncompaction 5, 613426;Scapuloperoneal syndrome, myopathic type, 181430;Cardiomyopathy, dilated, 1S, 613426 30847515 False 3 0;100;0 1.214 False ENSG00000092054 ENSG00000092054 HGNC:7577 MYH8 gene MYH8 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Carney complex variant, 608837;Trismus-pseudocamptodactyly syndrome, 158300 30847515 False 3 0;100;0 1.214 False ENSG00000133020 ENSG00000133020 HGNC:7578 MYH9 gene MYH9 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, 155100;Deafness, autosomal dominant 17, 603622 30847515 False 3 0;100;0 1.214 False ENSG00000100345 ENSG00000100345 HGNC:7579 MYL1 gene MYL1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, congenital, with fast-twitch (type II) fiber atrophy, OMIM:618414;Congenital myopathy with reduced type 2 muscle fibers, MONDO:0034109 30847515 False 3 0;100;0 1.214 False ENSG00000168530 ENSG00000168530 HGNC:7582 MYMK gene MYMK Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Carey-Fineman-Ziter syndrome, OMIM:254940;Carey-Fineman-Ziter syndrome, MONDO:0009700 30847515 False 3 0;100;0 1.214 False ENSG00000187616 ENSG00000187616 HGNC:33778 MYO15A gene MYO15A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 3, 600316 30847515 False 3 0;100;0 1.214 False ENSG00000091536 ENSG00000091536 HGNC:7594 MYO18B gene MYO18B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, 616549 30847515 False 3 0;100;0 1.214 False ENSG00000133454 ENSG00000133454 HGNC:18150 MYO1E gene MYO1E Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Glomerulosclerosis, focal segmental, 6, 614131 30847515 False 3 0;100;0 1.214 False ENSG00000157483 ENSG00000157483 HGNC:7599 MYO3A gene MYO3A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 30, 607101 30847515 False 3 0;100;0 1.214 False ENSG00000095777 ENSG00000095777 HGNC:7601 MYO5A gene MYO5A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Griscelli syndrome, type 1, 214450 30847515 False 3 0;100;0 1.214 False ENSG00000197535 ENSG00000197535 HGNC:7602 MYO5B gene MYO5B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Microvillus inclusion disease, 251850 30847515 False 3 0;100;0 1.214 False ENSG00000167306 ENSG00000167306 HGNC:7603 MYO6 gene MYO6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy, 606346;Deafness, autosomal dominant 22, 606346;Deafness, autosomal recessive 37, 607821 30847515 False 3 0;100;0 1.214 False ENSG00000196586 ENSG00000196586 HGNC:7605 MYO7A gene MYO7A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Usher syndrome, type 1B, 276900;Deafness, autosomal dominant 11, 601317;Deafness, autosomal recessive 2, 600060 30847515 False 3 0;100;0 1.214 False ENSG00000137474 ENSG00000137474 HGNC:7606 MYOT gene MYOT Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, spheroid body, 182920;Myopathy, myofibrillar, 3, 609200 30847515 False 3 0;100;0 1.214 False ENSG00000120729 ENSG00000120729 HGNC:12399 MYRF gene MYRF Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiac-urogenital syndrome, 618280;Encephalitis/encephalopathy, mild, with reversible myelin vacuolization, 618113 30847515 False 3 0;100;0 1.214 False ENSG00000124920 ENSG00000124920 HGNC:1181 MYSM1 gene MYSM1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Bone marrow failure syndrome 4, 618116 30847515 False 3 0;100;0 1.214 False ENSG00000162601 ENSG00000162601 HGNC:29401 MYT1 gene MYT1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown OAVS/Goldenhar syndrome;Oculo-auriculo-vertebral spectrum (OAVS) 30847515 False 3 0;100;0 1.214 False ENSG00000196132 ENSG00000196132 HGNC:7622 MYT1L gene MYT1L Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 39, 616521 30847515 False 3 0;100;0 1.214 False ENSG00000186487 ENSG00000186487 HGNC:7623 NAA10 gene NAA10 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) ?Microphthalmia, syndromic 1, 309800;Ogden syndrome, 300855 30847515 False 3 0;100;0 1.214 False ENSG00000102030 ENSG00000102030 HGNC:18704 NAA15 gene NAA15 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 50, 617787 30847515 False 3 0;100;0 1.214 False ENSG00000164134 ENSG00000164134 HGNC:30782 NACC1 gene NACC1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, 617393 30847515 False 3 0;100;0 1.214 False ENSG00000160877 ENSG00000160877 HGNC:20967 NAGA gene NAGA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Schindler disease, type I, 609241;Kanzaki disease, 609242;Schindler disease, type III, 609241 30847515 False 3 0;100;0 1.214 False ENSG00000198951 ENSG00000198951 HGNC:7631 NAGLU gene NAGLU Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491;Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 30847515 False 3 0;100;0 1.214 False ENSG00000108784 ENSG00000108784 HGNC:7632 NAGS gene NAGS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal N-acetylglutamate synthase deficiency, 237310 30847515 False 3 0;100;0 1.214 False ENSG00000161653 ENSG00000161653 HGNC:17996 NALCN gene NALCN Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital contractures of the limbs and face, hypotonia, and developmental delay, 616266;Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, 615419 30847515 False 3 0;100;0 1.214 False ENSG00000102452 ENSG00000102452 HGNC:19082 NANS gene NANS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Spondyloepimetaphyseal dysplasia, Camera-Genevieve type, 610442 30847515 False 3 0;100;0 1.214 False ENSG00000095380 ENSG00000095380 HGNC:19237 NARS2 gene NARS2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Deafness, autosomal recessive 94, 618434;Combined oxidative phosphorylation deficiency 24, 616239 30847515 False 3 0;100;0 1.214 False ENSG00000137513 ENSG00000137513 HGNC:26274 NAXE gene NAXE Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, OMIM:617186 30847515 False 3 0;100;0 1.214 False ENSG00000163382 ENSG00000163382 HGNC:18453 NBAS gene NBAS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Infantile liver failure syndrome 2, 616483;Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 30847515 False 3 0;100;0 1.214 False ENSG00000151779 ENSG00000151779 HGNC:15625 NBEA gene NBEA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Seizures;Global developmental delay;Intellectual disability 30847515 False 3 0;100;0 1.214 False ENSG00000172915 ENSG00000172915 HGNC:7648 NBEAL2 gene NBEAL2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Gray platelet syndrome, 139090 30847515 False 3 0;100;0 1.214 False ENSG00000160796 ENSG00000160796 HGNC:31928 NBN gene NBN Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Nijmegen breakage syndrome, 251260;Leukemia, acute lymphoblastic, 613065;Aplastic anemia, 609135 30847515 False 3 0;100;0 1.214 False ENSG00000104320 ENSG00000104320 HGNC:7652 NCF1 gene NCF1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Chronic granulomatous disease due to deficiency of NCF-1, 233700 30847515 False 3 0;100;0 1.214 False ENSG00000158517 ENSG00000158517 HGNC:7660 NCF2 gene NCF2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Chronic granulomatous disease due to deficiency of NCF-2, 233710 30847515 False 3 0;100;0 1.214 False ENSG00000116701 ENSG00000116701 HGNC:7661 NDE1 gene NDE1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Lissencephaly 4 (with microcephaly), 614019;?Microhydranencephaly, 605013 30847515 False 3 0;100;0 1.214 False ENSG00000072864 ENSG00000072864 HGNC:17619 NDP gene NDP Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Norrie disease, 310600;Exudative vitreoretinopathy 2, X-linked, 305390 30847515 False 3 0;100;0 1.214 False ENSG00000124479 ENSG00000124479 HGNC:7678 NDRG1 gene NDRG1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4D, 601455 30847515 False 3 0;100;0 1.214 False ENSG00000104419 ENSG00000104419 HGNC:7679 NDST1 gene NDST1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 46, 616116 30847515 False 3 0;100;0 1.214 False ENSG00000070614 ENSG00000070614 HGNC:7680 NDUFA1 gene NDUFA1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mitochondrial complex I deficiency, nuclear type 12, 301020 30847515 False 3 0;100;0 1.214 False ENSG00000125356 ENSG00000125356 HGNC:7683 NDUFA10 gene NDUFA10 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 22, 618243 30847515 False 3 0;100;0 1.214 False ENSG00000130414 ENSG00000130414 HGNC:7684 NDUFA11 gene NDUFA11 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 14, 618236 30847515 False 3 0;100;0 1.214 False ENSG00000174886 ENSG00000174886 HGNC:20371 NDUFA4 gene NDUFA4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Isolated complex IV deficiency 30847515 False 3 0;100;0 1.214 False ENSG00000189043 ENSG00000189043 HGNC:7687 NDUFA6 gene NDUFA6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 33, 618253 30847515 False 3 0;100;0 1.214 False ENSG00000184983 ENSG00000184983 HGNC:7690 NDUFA9 gene NDUFA9 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 26, 618247 30847515 False 3 0;100;0 1.214 False ENSG00000139180 ENSG00000139180 HGNC:7693 NDUFAF1 gene NDUFAF1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 11, 618234 30847515 False 3 0;100;0 1.214 False ENSG00000137806 ENSG00000137806 HGNC:18828 NDUFAF2 gene NDUFAF2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 10, 618233 30847515 False 3 0;100;0 1.214 False ENSG00000164182 ENSG00000164182 HGNC:28086 NDUFAF3 gene NDUFAF3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 18, 618240 30847515 False 3 0;100;0 1.214 False ENSG00000178057 ENSG00000178057 HGNC:29918 NDUFAF4 gene NDUFAF4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 15, 618237 30847515 False 3 0;100;0 1.214 False ENSG00000123545 ENSG00000123545 HGNC:21034 NDUFAF5 gene NDUFAF5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 16, 618238 30847515 False 3 0;100;0 1.214 False ENSG00000101247 ENSG00000101247 HGNC:15899 NDUFAF6 gene NDUFAF6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 17, 618239 30847515 False 3 0;100;0 1.214 False ENSG00000156170 ENSG00000156170 HGNC:28625 NDUFAF8 gene NDUFAF8 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial 30847515 False 3 0;100;0 1.214 False ENSG00000224877 ENSG00000224877 HGNC:33551 NDUFB11 gene NDUFB11 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Linear skin defects with multiple congenital anomalies 3, 300952;?Mitochondrial complex I deficiency, nuclear type 30, 301021 30847515 False 3 0;100;0 1.214 False ENSG00000147123 ENSG00000147123 HGNC:20372 NDUFB3 gene NDUFB3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 25, 618246 30847515 False 3 0;100;0 1.214 False ENSG00000119013 ENSG00000119013 HGNC:7698 NDUFB8 gene NDUFB8 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 32, 618252 30847515 False 3 0;100;0 1.214 False ENSG00000166136 ENSG00000166136 HGNC:7703 NDUFS1 gene NDUFS1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 5, 618226 30847515 False 3 0;100;0 1.214 False ENSG00000023228 ENSG00000023228 HGNC:7707 NDUFS2 gene NDUFS2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 6, 618228 30847515 False 3 0;100;0 1.214 False ENSG00000158864 ENSG00000158864 HGNC:7708 NDUFS3 gene NDUFS3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 8, 618230 30847515 False 3 0;100;0 1.214 False ENSG00000213619 ENSG00000213619 HGNC:7710 NDUFS4 gene NDUFS4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 1, 252010 30847515 False 3 0;100;0 1.214 False ENSG00000164258 ENSG00000164258 HGNC:7711 NDUFS6 gene NDUFS6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 9, 618232 30847515 False 3 0;100;0 1.214 False ENSG00000145494 ENSG00000145494 HGNC:7713 NDUFS7 gene NDUFS7 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 3, 618224 30847515 False 3 0;100;0 1.214 False ENSG00000115286 ENSG00000115286 HGNC:7714 NDUFS8 gene NDUFS8 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 2, 618222 30847515 False 3 0;100;0 1.214 False ENSG00000110717 ENSG00000110717 HGNC:7715 NDUFV1 gene NDUFV1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 4, 618225 30847515 False 3 0;100;0 1.214 False ENSG00000167792 ENSG00000167792 HGNC:7716 NDUFV2 gene NDUFV2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 7, 618229 30847515 False 3 0;100;0 1.214 False ENSG00000178127 ENSG00000178127 HGNC:7717 NEB gene NEB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 2, autosomal recessive, 256030 30847515 False 3 0;100;0 1.214 False ENSG00000183091 ENSG00000183091 HGNC:7720 NECTIN1 gene NECTIN1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Orofacial cleft 7, 225060;Cleft lip/palate-ectodermal dysplasia syndrome, 225060 30847515 False 3 0;100;0 1.214 False ENSG00000110400 ENSG00000110400 HGNC:9706 NECTIN4 gene NECTIN4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia-syndactyly syndrome 1, 613573 30847515 False 3 0;100;0 1.214 False ENSG00000143217 ENSG00000143217 HGNC:19688 NEDD4L gene NEDD4L Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Periventricular nodular heterotopia 7, 617201 30847515 False 3 0;100;0 1.214 False ENSG00000049759 ENSG00000049759 HGNC:7728 NEFH gene NEFH Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 30847515 False 3 0;100;0 1.214 False ENSG00000100285 ENSG00000100285 HGNC:7737 NEFL gene NEFL Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, dominant intermediate G, 617882;Charcot-Marie-Tooth disease, type 2E, 607684;Charcot-Marie-Tooth disease, type 1F, 607734 30847515 False 3 0;100;0 1.214 False ENSG00000104725 ENSG00000277586 HGNC:7739 NEK1 gene NEK1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 30847515 False 3 0;100;0 1.214 False ENSG00000137601 ENSG00000137601 HGNC:7744 NEK8 gene NEK8 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Nephronophthisis 9, 613824;Renal-hepatic-pancreatic dysplasia 2, 615415 30847515 False 3 0;100;0 1.214 False ENSG00000160602 ENSG00000160602 HGNC:13387 NEU1 gene NEU1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Sialidosis, type I, 256550;Sialidosis, type II, 256550 30847515 False 3 0;100;0 1.214 False ENSG00000204386 ENSG00000204386 HGNC:7758 NEXMIF gene NEXMIF Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mental retardation, X-linked 98, 300912 30847515 False 3 0;100;0 1.214 False ENSG00000050030 ENSG00000050030 HGNC:29433 NF1 gene NF1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Watson syndrome, 193520;Neurofibromatosis-Noonan syndrome, 601321;Neurofibromatosis, familial spinal, 162210;Neurofibromatosis, type 1, 162200;Leukemia, juvenile myelomonocytic, 607785 30847515 False 3 0;100;0 1.214 False ENSG00000196712 ENSG00000196712 HGNC:7765 NF2 gene NF2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurofibromatosis, type 2, 101000 30847515 False 3 0;100;0 1.214 False ENSG00000186575 ENSG00000186575 HGNC:7773 NFASC gene NFASC Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with central and peripheral motor dysfunction, OMIM:618356;neurodevelopmental disorder with central and peripheral motor dysfunction, MONDO:003269 30847515 False 3 0;100;0 1.214 False ENSG00000163531 ENSG00000163531 HGNC:29866 NFE2L2 gene NFE2L2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Immunodeficiency, developmental delay, and hypohomocysteinemia, 617744 30847515 False 3 0;100;0 1.214 False ENSG00000116044 ENSG00000116044 HGNC:7782 NFIA gene NFIA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brain malformations with or without urinary tract defects, 613735 30847515 False 3 0;100;0 1.214 False ENSG00000162599 ENSG00000162599 HGNC:7784 NFIX gene NFIX Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Sotos syndrome 2, 614753;Marshall-Smith syndrome, 602535 30847515 False 3 0;100;0 1.214 False ENSG00000008441 ENSG00000008441 HGNC:7788 NFKB1 gene NFKB1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Immunodeficiency, common variable, 12, 616576 30847515 False 3 0;100;0 1.214 False ENSG00000109320 ENSG00000109320 HGNC:7794 NFKB2 gene NFKB2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Immunodeficiency, common variable, 10, 615577 30847515 False 3 0;100;0 1.214 False ENSG00000077150 ENSG00000077150 HGNC:7795 NFKBIA gene NFKBIA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ectodermal dysplasia and immunodeficiency 2, 612132 30847515 False 3 0;100;0 1.214 False ENSG00000100906 ENSG00000100906 HGNC:7797 NFU1 gene NFU1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 1, 605711 30847515 False 3 0;100;0 1.214 False ENSG00000169599 ENSG00000169599 HGNC:16287 NGLY1 gene NGLY1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of deglycosylation, 615273 30847515 False 3 0;100;0 1.214 False ENSG00000151092 ENSG00000151092 HGNC:17646 NHEJ1 gene NHEJ1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, 611291 30847515 False 3 0;100;0 1.214 False ENSG00000187736 ENSG00000187736 HGNC:25737 NHLRC1 gene NHLRC1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 2B (Lafora), 254780 30847515 False 3 0;100;0 1.214 False ENSG00000187566 ENSG00000187566 HGNC:21576 NHP2 gene NHP2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 2, 613987 30847515 False 3 0;100;0 1.214 False ENSG00000145912 ENSG00000145912 HGNC:14377 NHS gene NHS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Nance-Horan syndrome, 302350;Cataract 40, X-linked, 302200 30847515 False 3 0;100;0 1.214 False ENSG00000188158 ENSG00000188158 HGNC:7820 NIPA1 gene NIPA1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 6, autosomal dominant, 600363 30847515 False 3 0;100;0 1.214 False ENSG00000170113 ENSG00000170113 HGNC:17043 NIPAL4 gene NIPAL4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 6, 612281 30847515 False 3 0;100;0 1.214 False ENSG00000172548 ENSG00000172548 HGNC:28018 NIPBL gene NIPBL Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cornelia de Lange syndrome 1, 122470 30847515 False 3 0;100;0 1.214 False ENSG00000164190 ENSG00000164190 HGNC:28862 NKX2-1 gene NKX2-1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Chorea, hereditary benign, 118700;Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 30847515 False 3 0;100;0 1.214 False ENSG00000136352 ENSG00000136352 HGNC:11825 NKX2-5 gene NKX2-5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Tetralogy of Fallot, 187500;Conotruncal heart malformations, variable, 217095;Ventricular septal defect 3, 614432;Hypothyroidism, congenital nongoitrous, 5, 225250;Hypoplastic left heart syndrome 2, 614435;Atrial septal defect 7, with or without AV conduction defects, 108900 30847515 False 3 0;100;0 1.214 False ENSG00000183072 ENSG00000183072 HGNC:2488 NKX3-2 gene NKX3-2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330 30847515 False 3 0;100;0 1.214 False ENSG00000109705 ENSG00000109705 HGNC:951 NKX6-2 gene NKX6-2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 30847515 False 3 0;100;0 1.214 False ENSG00000148826 ENSG00000148826 HGNC:19321 NLGN3 gene NLGN3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) {Autism susceptibility, X-linked 1}, 300425;{Asperger syndrome susceptibility, X-linked 1}, 300494 30847515 False 3 0;100;0 1.214 False ENSG00000196338 ENSG00000196338 HGNC:14289 NLRC4 gene NLRC4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autoinflammation with infantile enterocolitis, OMIM:616050;?Familial cold autoinflammatory syndrome 4, OMIM:616115 30847515 False 3 0;100;0 1.214 False ENSG00000091106 ENSG00000091106 HGNC:16412 NLRP12 gene NLRP12 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial cold autoinflammatory syndrome 2, OMIM:611762 30847515 False 3 0;100;0 1.214 False ENSG00000142405 ENSG00000142405 HGNC:22938 NLRP3 gene NLRP3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CINCA syndrome, OMIM:607115;Deafness, autosomal dominant 34, with or without inflammation, OMIM:617772;Familial cold inflammatory syndrome 1, OMIM:120100;Muckle-Wells syndrome, OMIM:191900;Keratoendothelitis fugax hereditaria, OMIM:148200 30847515 False 3 0;100;0 1.214 False ENSG00000162711 ENSG00000162711 HGNC:16400 NMNAT1 gene NMNAT1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 9, 608553 30847515 False 3 0;100;0 1.214 False ENSG00000173614 ENSG00000173614 HGNC:17877 NOD2 gene NOD2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Blau syndrome, OMIM:186580;{Inflammatory bowel disease 1, Crohn disease}, OMIM:266600;{Yao syndrome}, OMIM:617321 30847515 False 3 0;100;0 1.214 False ENSG00000167207 ENSG00000167207 HGNC:5331 NODAL gene NODAL Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Heterotaxy, visceral, 5, 270100 30847515 False 3 0;100;0 1.214 False ENSG00000156574 ENSG00000156574 HGNC:7865 NOG gene NOG Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tarsal-carpal coalition syndrome, 186570;Symphalangism, proximal, 1A, 185800;Brachydactyly, type B2, 611377;Stapes ankylosis with broad thumbs and toes, 184460;Multiple synostoses syndrome 1, 186500 30847515 False 3 0;100;0 1.214 False ENSG00000183691 ENSG00000183691 HGNC:7866 NONO gene NONO Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mental retardation, X-linked, syndromic 34, 300967 30847515 False 3 0;100;0 1.214 False ENSG00000147140 ENSG00000147140 HGNC:7871 NOP10 gene NOP10 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 1, 224230 30847515 False 3 0;100;0 1.214 False ENSG00000182117 ENSG00000182117 HGNC:14378 NOP56 gene NOP56 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 36, 614153 30847515 False 3 0;100;0 1.214 False ENSG00000101361 ENSG00000101361 HGNC:15911 NOTCH1 gene NOTCH1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Adams-Oliver syndrome 5, 616028;Aortic valve disease 1, 109730 30847515 False 3 0;100;0 1.214 False ENSG00000148400 ENSG00000148400 HGNC:7881 NOTCH2 gene NOTCH2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Alagille syndrome 2, 610205;Hajdu-Cheney syndrome, 102500 30847515 False 3 0;100;0 1.214 False ENSG00000134250 ENSG00000134250 HGNC:7882 NOTCH3 gene NOTCH3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310;Lateral meningocele syndrome, 130720;?Myofibromatosis, infantile 2, 615293 30847515 False 3 0;100;0 1.214 False ENSG00000074181 ENSG00000074181 HGNC:7883 NPC1 gene NPC1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease, type D, 257220;Niemann-Pick disease, type C1, 257220 30847515 False 3 0;100;0 1.214 False ENSG00000141458 ENSG00000141458 HGNC:7897 NPC2 gene NPC2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Niemann-pick disease, type C2, 607625 30847515 False 3 0;100;0 1.214 False ENSG00000119655 ENSG00000119655 HGNC:14537 NPHP1 gene NPHP1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 1, juvenile, 256100;Senior-Loken syndrome-1, 266900;Joubert syndrome 4, 609583 30847515 False 3 0;100;0 1.214 False ENSG00000144061 ENSG00000144061 HGNC:7905 NPHP3 gene NPHP3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 7, 267010;Nephronophthisis 3, 604387;Renal-hepatic-pancreatic dysplasia 1, 208540 30847515 False 3 0;100;0 1.214 False ENSG00000113971 ENSG00000113971 HGNC:7907 NPHP4 gene NPHP4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 4, 606966;Senior-Loken syndrome 4, 606996 30847515 False 3 0;100;0 1.214 False ENSG00000131697 ENSG00000131697 HGNC:19104 NPHS1 gene NPHS1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 1, 256300 30847515 False 3 0;100;0 1.214 False ENSG00000161270 ENSG00000161270 HGNC:7908 NPHS2 gene NPHS2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 2, 600995 30847515 False 3 0;100;0 1.214 False ENSG00000116218 ENSG00000116218 HGNC:13394 NPR2 gene NPR2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Short stature with nonspecific skeletal abnormalities, 616255;Epiphyseal chondrodysplasia, Miura type, 615923;Acromesomelic dysplasia, Maroteaux type, 602875 30847515 False 3 0;100;0 1.214 False ENSG00000159899 ENSG00000159899 HGNC:7944 NPRL3 gene NPRL3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy, familial focal, with variable foci 3, 617118 30847515 False 3 0;100;0 1.214 False ENSG00000103148 ENSG00000103148 HGNC:14124 NR0B1 gene NR0B1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females 46XY sex reversal 2, dosage-sensitive, 300018;Adrenal hypoplasia, congenital, 300200 30847515 False 3 0;100;0 1.214 False ENSG00000169297 ENSG00000169297 HGNC:7960 NR1H4 gene NR1H4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic, 5, 617049 30847515 False 3 0;100;0 1.214 False ENSG00000012504 ENSG00000012504 HGNC:7967 NR2F1 gene NR2F1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Bosch-Boonstra-Schaaf optic atrophy syndrome, 615722 30847515 False 3 0;100;0 1.214 False ENSG00000175745 ENSG00000175745 HGNC:7975 NR2F2 gene NR2F2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital heart defects, multiple types, 4, 615779 30847515 False 3 0;100;0 1.214 False ENSG00000185551 ENSG00000185551 HGNC:7976 NR5A1 gene NR5A1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Premature ovarian failure 7, 612964;46, XX sex reversal 4, 617480;Spermatogenic failure 8, 613957;Adrenocortical insufficiency, 612964;46XY sex reversal 3, 612965 30847515 False 3 0;100;0 1.214 False ENSG00000136931 ENSG00000136931 HGNC:7983 NRAS gene NRAS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 6, 613224 30847515 False 3 0;100;0 1.214 False ENSG00000213281 ENSG00000213281 HGNC:7989 NRXN1 gene NRXN1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Pitt-Hopkins-like syndrome 2, 614325 30847515 False 3 0;100;0 1.214 False ENSG00000179915 ENSG00000179915 HGNC:8008 NSD1 gene NSD1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Sotos syndrome 1, 117550;Leukemia, acute myeloid, 601626 30847515 False 3 0;100;0 1.214 False ENSG00000165671 ENSG00000165671 HGNC:14234 NSD2 gene NSD2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rauch-Steindl syndrome, OMIM:619695;Rauch-Steindl syndrome, MONDO:0859219 30847515 False 3 0;100;0 1.214 False ENSG00000109685 ENSG00000109685 HGNC:12766 NSDHL gene NSDHL Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) CK syndrome, 300831;CHILD syndrome, 308050 30847515 False 3 0;100;0 1.214 False ENSG00000147383 ENSG00000147383 HGNC:13398 NSMCE3 gene NSMCE3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Lung disease, immunodeficiency, and chromosome breakage syndrome, 617241 30847515 False 3 0;100;0 1.214 False ENSG00000185115 ENSG00000185115 HGNC:7677 NSUN2 gene NSUN2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 5, 611091 30847515 False 3 0;100;0 1.214 False ENSG00000037474 ENSG00000037474 HGNC:25994 NT5C2 gene NT5C2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 45, autosomal recessive, 613162 30847515 False 3 0;100;0 1.214 False ENSG00000076685 ENSG00000076685 HGNC:8022 NT5C3A gene NT5C3A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Anemia, hemolytic, due to UMPH1 deficiency, 266120 30847515 False 3 0;100;0 1.214 False ENSG00000122643 ENSG00000122643 HGNC:17820 NTRK1 gene NTRK1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Insensitivity to pain, congenital, with anhidrosis, 256800;Medullary thyroid carcinoma, familial, 155240 30847515 False 3 0;100;0 1.214 False ENSG00000198400 ENSG00000198400 HGNC:8031 NTRK2 gene NTRK2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Obesity, hyperphagia, and developmental delay, 613886;Epileptic encephalopathy, early infantile, 58, 617830 30847515 False 3 0;100;0 1.214 False ENSG00000148053 ENSG00000148053 HGNC:8032 NUBPL gene NUBPL Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 21, 618242 30847515 False 3 0;100;0 1.214 False ENSG00000151413 ENSG00000151413 HGNC:20278 NUP107 gene NUP107 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 11, 616730;?Ovarian dysgenesis 6, 618078;Galloway-Mowat syndrome 7, 618348 30847515 False 3 0;100;0 1.214 False ENSG00000111581 ENSG00000111581 HGNC:29914 NUP93 gene NUP93 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 12, 616892 30847515 False 3 0;100;0 1.214 False ENSG00000102900 ENSG00000102900 HGNC:28958 NUS1 gene NUS1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Congenital disorder of glycosylation, type 1aa, 617082;Mental retardation, autosomal dominant 55, with seizures, 617831 30847515 False 3 0;100;0 1.214 False ENSG00000153989 ENSG00000153989 HGNC:21042 NYX gene NYX Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Night blindness, congenital stationary (complete), 1A, X-linked, 310500 30847515 False 3 0;100;0 1.214 False ENSG00000188937 ENSG00000188937 HGNC:8082 OAT gene OAT Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Gyrate atrophy of choroid and retina with or without ornithinemia, 258870 30847515 False 3 0;100;0 1.214 False ENSG00000065154 ENSG00000065154 HGNC:8091 OBSL1 gene OBSL1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal 3-M syndrome 2, 612921 30847515 False 3 0;100;0 1.214 False ENSG00000124006 ENSG00000124006 HGNC:29092 OCA2 gene OCA2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Albinism, oculocutaneous, type II, 203200;Albinism, brown oculocutaneous, 203200 30847515 False 3 0;100;0 1.214 False ENSG00000104044 ENSG00000104044 HGNC:8101 OCLN gene OCLN Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Pseudo-TORCH syndrome 1, 251290 30847515 False 3 0;100;0 1.214 False ENSG00000197822 ENSG00000197822 HGNC:8104 OCRL gene OCRL Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Dent disease 2, 300555;Lowe syndrome, 309000 30847515 False 3 0;100;0 1.214 False ENSG00000122126 ENSG00000122126 HGNC:8108 ODC1 gene ODC1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global developmental delay;Ectodermal dysplasia;Alopecia;Intellectual disability;Macrocephaly 30847515 False 3 0;100;0 1.214 False ENSG00000115758 ENSG00000115758 HGNC:8109 OFD1 gene OFD1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Joubert syndrome 10, 300804;?Retinitis pigmentosa 23, 300424;Simpson-Golabi-Behmel syndrome, type 2, 300209;Orofaciodigital syndrome I, 311200 30847515 False 3 0;100;0 1.214 False ENSG00000046651 ENSG00000046651 HGNC:2567 OGT gene OGT Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked 106, 300997 30847515 False 3 0;100;0 1.214 False ENSG00000147162 ENSG00000147162 HGNC:8127 OPA1 gene OPA1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Behr syndrome, 210000;Optic atrophy 1, 165500;?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), 616896;Optic atrophy plus syndrome, 125250 30847515 False 3 0;100;0 1.214 False ENSG00000198836 ENSG00000198836 HGNC:8140 OPA3 gene OPA3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type III, 258501;Optic atrophy 3 with cataract, 165300 30847515 False 3 0;100;0 1.214 False ENSG00000125741 ENSG00000125741 HGNC:8142 OPHN1 gene OPHN1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 30847515 False 3 0;100;0 1.214 False ENSG00000079482 ENSG00000079482 HGNC:8148 ORAI1 gene ORAI1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Immunodeficiency 9, 612782;Myopathy, tubular aggregate, 2, 615883 30847515 False 3 0;100;0 1.214 False ENSG00000182500 ENSG00000276045 HGNC:25896 ORC1 gene ORC1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 1, 224690 30847515 False 3 0;100;0 1.214 False ENSG00000085840 ENSG00000085840 HGNC:8487 ORC4 gene ORC4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 2, 613800 30847515 False 3 0;100;0 1.214 False ENSG00000115947 ENSG00000115947 HGNC:8490 ORC6 gene ORC6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 3, 613803 30847515 False 3 0;100;0 1.214 False ENSG00000091651 ENSG00000091651 HGNC:17151 OSGEP gene OSGEP Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 3, 617729 30847515 False 3 0;100;0 1.214 False ENSG00000092094 ENSG00000092094 HGNC:18028 OSMR gene OSMR Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyloidosis, primary localized cutaneous, 1, 105250 30847515 False 3 0;100;0 1.214 False ENSG00000145623 ENSG00000145623 HGNC:8507 OSTM1 gene OSTM1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 5, 259720 30847515 False 3 0;100;0 1.214 False ENSG00000081087 ENSG00000081087 HGNC:21652 OTC gene OTC Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Ornithine transcarbamylase deficiency, 311250 30847515 False 3 0;100;0 1.214 False ENSG00000036473 ENSG00000036473 HGNC:8512 OTOA gene OTOA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 22, 607039 30847515 False 3 0;100;0 1.214 False ENSG00000155719 ENSG00000155719 HGNC:16378 OTOF gene OTOF Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 9, 601071;Auditory neuropathy, autosomal recessive, 1, 601071 30847515 False 3 0;100;0 1.214 False ENSG00000115155 ENSG00000115155 HGNC:8515 OTOGL gene OTOGL Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 84B, 614944 30847515 False 3 0;100;0 1.214 False ENSG00000165899 ENSG00000165899 HGNC:26901 OTUD6B gene OTUD6B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452 30847515 False 3 0;100;0 1.214 False ENSG00000155100 ENSG00000155100 HGNC:24281 OTULIN gene OTULIN Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099 30847515 False 3 0;100;0 1.214 False ENSG00000154124 ENSG00000154124 HGNC:25118 OTX2 gene OTX2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Microphthalmia, syndromic 5, 610125;Pituitary hormone deficiency, combined, 6, 613986;Retinal dystrophy, early-onset, with or without pituitary dysfunction, 610125 30847515 False 3 0;100;0 1.214 False ENSG00000165588 ENSG00000165588 HGNC:8522 OXCT1 gene OXCT1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 30847515 False 3 0;100;0 1.214 False ENSG00000083720 ENSG00000083720 HGNC:8527 P2RY12 gene P2RY12 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Bleeding disorder, platelet-type, 8, 609821 30847515 False 3 0;100;0 1.214 False ENSG00000169313 ENSG00000169313 HGNC:18124 P3H1 gene P3H1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type VIII, 610915 30847515 False 3 0;100;0 1.214 False ENSG00000117385 ENSG00000117385 HGNC:19316 P4HTM gene P4HTM Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities, 618493 30847515 False 3 0;100;0 1.214 False ENSG00000178467 ENSG00000178467 HGNC:28858 PACS1 gene PACS1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Schuurs-Hoeijmakers syndrome, 615009 30847515 False 3 0;100;0 1.214 False ENSG00000175115 ENSG00000175115 HGNC:30032 PACS2 gene PACS2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 66, 618067 30847515 False 3 0;100;0 1.214 False ENSG00000179364 ENSG00000179364 HGNC:23794 PAFAH1B1 gene PAFAH1B1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lissencephaly 1, 607432;Subcortical laminar heterotopia, 607432 30847515 False 3 0;100;0 1.214 False ENSG00000007168 ENSG00000007168 HGNC:8574 PAH gene PAH Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Phenylketonuria, 261600 30847515 False 3 0;100;0 1.214 False ENSG00000171759 ENSG00000171759 HGNC:8582 PAK3 gene PAK3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked 30/47, 300558 30847515 False 3 0;100;0 1.214 False ENSG00000077264 ENSG00000077264 HGNC:8592 PALB2 gene PALB2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Fanconi anemia, complementation group N, 610832 30847515 False 3 0;100;0 1.214 False ENSG00000083093 ENSG00000083093 HGNC:26144 PANK2 gene PANK2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with brain iron accumulation 1, 234200;HARP syndrome, 607236 30847515 False 3 0;100;0 1.214 False ENSG00000125779 ENSG00000125779 HGNC:15894 PAPPA2 gene PAPPA2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Proportionate Short Stature, High Circulating IGF-I, IGFBP-3, and ALS, Mild Microcephaly, thin Long Bones and Decreased Bone Mineral Density 30847515 False 3 0;100;0 1.214 False ENSG00000116183 ENSG00000116183 HGNC:14615 PAPSS2 gene PAPSS2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847 30847515 False 3 0;100;0 1.214 False ENSG00000198682 ENSG00000198682 HGNC:8604 PARK7 gene PARK7 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Parkinson disease 7, autosomal recessive early-onset, 606324 30847515 False 3 0;100;0 1.214 False ENSG00000116288 ENSG00000116288 HGNC:16369 PARN gene PARN Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, 616371;Dyskeratosis congenita, autosomal recessive 6, 616353 30847515 False 3 0;100;0 1.214 False ENSG00000140694 ENSG00000140694 HGNC:8609 PARS2 gene PARS2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 75, 618437 30847515 False 3 0;100;0 1.214 False ENSG00000162396 ENSG00000162396 HGNC:30563 PAX2 gene PAX2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Glomerulosclerosis, focal segmental, 7, 616002;Papillorenal syndrome, 120330 30847515 False 3 0;100;0 1.214 False ENSG00000075891 ENSG00000075891 HGNC:8616 PAX3 gene PAX3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rhabdomyosarcoma 2, alveolar, 268220;Waardenburg syndrome, type 3, 148820;Craniofacial-deafness-hand syndrome, 122880;Waardenburg syndrome, type 1, 193500 30847515 False 3 0;100;0 1.214 False ENSG00000135903 ENSG00000135903 HGNC:8617 PAX6 gene PAX6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Anterior segment dysgenesis 5, multiple subtypes, 604229;Keratitis, 148190;Cataract with late-onset corneal dystrophy, 106210;?Coloboma, ocular, 120200;Optic nerve hypoplasia, 165550;?Coloboma of optic nerve, 120430;Foveal hypoplasia 1, 136520;Aniridia, 106210;?Morning glory disc anomaly, 120430 30847515 False 3 0;100;0 1.214 False ENSG00000007372 ENSG00000007372 HGNC:8620 PAX8 gene PAX8 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700 30847515 False 3 0;100;0 1.214 False ENSG00000125618 ENSG00000125618 HGNC:8622 PAX9 gene PAX9 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tooth agenesis, selective, 3, 604625 30847515 False 3 0;100;0 1.214 False ENSG00000198807 ENSG00000198807 HGNC:8623 PBX1 gene PBX1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, 617641 30847515 False 3 0;100;0 1.214 False ENSG00000185630 ENSG00000185630 HGNC:8632 PC gene PC Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Pyruvate carboxylase deficiency, 266150 30847515 False 3 0;100;0 1.214 False ENSG00000173599 ENSG00000173599 HGNC:8636 PCBD1 gene PCBD1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, D, 264070 30847515 False 3 0;100;0 1.214 False ENSG00000166228 ENSG00000166228 HGNC:8646 PCCA gene PCCA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Propionicacidemia, 606054 30847515 False 3 0;100;0 1.214 False ENSG00000175198 ENSG00000175198 HGNC:8653 PCCB gene PCCB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Propionicacidemia, 606054 30847515 False 3 0;100;0 1.214 False ENSG00000114054 ENSG00000114054 HGNC:8654 PCDH12 gene PCDH12 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Diencephalic-mesencephalic junction dysplasia syndrome 1, 251280 30847515 False 3 0;100;0 1.214 False ENSG00000113555 ENSG00000113555 HGNC:8657 PCDH15 gene PCDH15 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 23, 609533;Usher syndrome, type 1F, 602083;Usher syndrome, type 1D/F digenic, 601067 30847515 False 3 0;100;0 1.214 False ENSG00000150275 ENSG00000150275 HGNC:14674 PCDH19 gene PCDH19 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Epileptic encephalopathy, early infantile, 9, 300088 30847515 False 3 0;100;0 1.214 False ENSG00000165194 ENSG00000165194 HGNC:14270 PCGF2 gene PCGF2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Turnpenny-Fry syndrome, 618371 30847515 False 3 0;100;0 1.214 False ENSG00000056661 ENSG00000277258 HGNC:12929 PCNT gene PCNT Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Microcephalic osteodysplastic primordial dwarfism, type II, 210720 30847515 False 3 0;100;0 1.214 False ENSG00000160299 ENSG00000160299 HGNC:16068 PCSK9 gene PCSK9 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypercholesterolemia, familial, 3, 603776 26541928;30847515 False 3 67;33;0 1.214 False ENSG00000169174 ENSG00000169174 HGNC:20001 PCYT1A gene PCYT1A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 30847515 False 3 0;100;0 1.214 False ENSG00000161217 ENSG00000161217 HGNC:8754 PDCD10 gene PDCD10 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cerebral cavernous malformations 3, 603285 30847515 False 3 0;100;0 1.214 False ENSG00000114209 ENSG00000114209 HGNC:8761 PDE10A gene PDE10A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyskinesia, limb and orofacial, infantile-onset, 616921;Striatal degeneration, autosomal dominant, 616922 30847515 False 3 0;100;0 1.214 False ENSG00000112541 ENSG00000112541 HGNC:8772 PDE3A gene PDE3A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypertension and brachydactyly syndrome, 112410 30847515 False 3 0;100;0 1.214 False ENSG00000172572 ENSG00000172572 HGNC:8778 PDE4D gene PDE4D Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Acrodysostosis 2, with or without hormone resistance, 614613 30847515 False 3 0;100;0 1.214 False ENSG00000113448 ENSG00000113448 HGNC:8783 PDE6G gene PDE6G Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 57, 613582 30847515 False 3 0;100;0 1.214 False ENSG00000185527 ENSG00000185527 HGNC:8789 PDGFB gene PDGFB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Meningioma, SIS-related, 607174;Basal ganglia calcification, idiopathic, 5, 615483;Dermatofibrosarcoma protuberans, 607907 30847515 False 3 0;100;0 1.214 False ENSG00000100311 ENSG00000100311 HGNC:8800 PDGFRB gene PDGFRB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myofibromatosis, infantile, 1, 228550;Kosaki overgrowth syndrome, 616592;Premature aging syndrome, Penttinen type, 601812;Basal ganglia calcification, idiopathic, 4, 615007;Myeloproliferative disorder with eosinophilia, 131440 30847515 False 3 0;100;0 1.214 False ENSG00000113721 ENSG00000113721 HGNC:8804 PDHA1 gene PDHA1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Pyruvate dehydrogenase E1-alpha deficiency, 312170 30847515 False 3 0;100;0 1.214 False ENSG00000131828 ENSG00000131828 HGNC:8806 PDHB gene PDHB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Pyruvate dehydrogenase E1-beta deficiency, 614111 30847515 False 3 0;100;0 1.214 False ENSG00000168291 ENSG00000168291 HGNC:8808 PDHX gene PDHX Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Lacticacidemia due to PDX1 deficiency, 245349 30847515 False 3 0;100;0 1.214 False ENSG00000110435 ENSG00000110435 HGNC:21350 PDP1 gene PDP1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Pyruvate dehydrogenase phosphatase deficiency, 608782 30847515 False 3 0;100;0 1.214 False ENSG00000164951 ENSG00000164951 HGNC:9279 PDSS1 gene PDSS1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 2, 614651 30847515 False 3 0;100;0 1.214 False ENSG00000148459 ENSG00000148459 HGNC:17759 PDSS2 gene PDSS2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 3, 614652 30847515 False 3 0;100;0 1.214 False ENSG00000164494 ENSG00000164494 HGNC:23041 PDYN gene PDYN Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 23, 610245 30847515 False 3 0;100;0 1.214 False ENSG00000101327 ENSG00000101327 HGNC:8820 PEPD gene PEPD Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Prolidase deficiency, 170100 30847515 False 3 0;100;0 1.214 False ENSG00000124299 ENSG00000124299 HGNC:8840 PET100 gene PET100 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, 220110 30847515 False 3 0;100;0 1.214 False ENSG00000229833 ENSG00000229833 HGNC:40038 PEX1 gene PEX1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 1A (Zellweger), 214100;Heimler syndrome 1, 234580;Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 30847515 False 3 0;100;0 1.214 False ENSG00000127980 ENSG00000127980 HGNC:8850 PEX10 gene PEX10 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 6A (Zellweger), 614870;Peroxisome biogenesis disorder 6B, 614871 30847515 False 3 0;100;0 1.214 False ENSG00000157911 ENSG00000157911 HGNC:8851 PEX12 gene PEX12 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 3A (Zellweger), 614859;Peroxisome biogenesis disorder 3B, 266510 30847515 False 3 0;100;0 1.214 False ENSG00000108733 ENSG00000108733 HGNC:8854 PEX13 gene PEX13 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 11B, 614885;Peroxisome biogenesis disorder 11A (Zellweger), 614883 30847515 False 3 0;100;0 1.214 False ENSG00000162928 ENSG00000162928 HGNC:8855 PEX14 gene PEX14 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 13A (Zellweger), 614887 30847515 False 3 0;100;0 1.214 False ENSG00000142655 ENSG00000142655 HGNC:8856 PEX16 gene PEX16 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 8A (Zellweger), 614876;Peroxisome biogenesis disorder 8B, 614877 30847515 False 3 0;100;0 1.214 False ENSG00000121680 ENSG00000121680 HGNC:8857 PEX19 gene PEX19 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 12A (Zellweger), 614886 30847515 False 3 0;100;0 1.214 False ENSG00000162735 ENSG00000162735 HGNC:9713 PEX2 gene PEX2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 5B, 614867;Peroxisome biogenesis disorder 5A (Zellweger), 614866 30847515 False 3 0;100;0 1.214 False ENSG00000164751 ENSG00000164751 HGNC:9717 PEX26 gene PEX26 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 7A (Zellweger), 614872;Peroxisome biogenesis disorder 7B, 614873 30847515 False 3 0;100;0 1.214 False ENSG00000215193 ENSG00000215193 HGNC:22965 PEX3 gene PEX3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Peroxisome biogenesis disorder 10B, 617370;Peroxisome biogenesis disorder 10A (Zellweger), 614882 30847515 False 3 0;100;0 1.214 False ENSG00000034693 ENSG00000034693 HGNC:8858 PEX5 gene PEX5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 2A (Zellweger), 214110;Rhizomelic chondrodysplasia punctata, type 5, 616716;Peroxisome biogenesis disorder 2B, 202370 30847515 False 3 0;100;0 1.214 False ENSG00000139197 ENSG00000139197 HGNC:9719 PEX6 gene PEX6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Heimler syndrome 2, 616617;Peroxisome biogenesis disorder 4B, 614863;Peroxisome biogenesis disorder 4A (Zellweger), 614862 30847515 False 3 0;100;0 1.214 False ENSG00000124587 ENSG00000124587 HGNC:8859 PEX7 gene PEX7 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Rhizomelic chondrodysplasia punctata, type 1, 215100;Peroxisome biogenesis disorder 9B, 614879 30847515 False 3 0;100;0 1.214 False ENSG00000112357 ENSG00000112357 HGNC:8860 PFKM gene PFKM Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease VII, 232800 30847515 False 3 0;100;0 1.214 False ENSG00000152556 ENSG00000152556 HGNC:8877 PGAM2 gene PGAM2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease X, 261670 30847515 False 3 0;100;0 1.214 False ENSG00000164708 ENSG00000164708 HGNC:8889 PGAP1 gene PGAP1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 42, 615802 30847515 False 3 0;100;0 1.214 False ENSG00000197121 ENSG00000197121 HGNC:25712 PGAP2 gene PGAP2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 3, 614207 30847515 False 3 0;100;0 1.214 False ENSG00000148985 ENSG00000148985 HGNC:17893 PGAP3 gene PGAP3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 4, 615716 30847515 False 3 0;100;0 1.214 False ENSG00000161395 ENSG00000161395 HGNC:23719 PGK1 gene PGK1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Phosphoglycerate kinase 1 deficiency, 300653 30847515 False 3 0;100;0 1.214 False ENSG00000102144 ENSG00000102144 HGNC:8896 PGM1 gene PGM1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type It, 614921 30847515 False 3 0;100;0 1.214 False ENSG00000079739 ENSG00000079739 HGNC:8905 PGM3 gene PGM3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 23, 615816 30847515 False 3 0;100;0 1.214 False ENSG00000013375 ENSG00000013375 HGNC:8907 PHACTR1 gene PHACTR1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 70, 618298 30847515 False 3 0;100;0 1.214 False ENSG00000112137 ENSG00000112137 HGNC:20990 PHEX gene PHEX Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Hypophosphatemic rickets, X-linked dominant, 307800 30847515 False 3 0;100;0 1.214 False ENSG00000102174 ENSG00000102174 HGNC:8918 PHF21A gene PHF21A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Potocki-Shaffer syndrome, 601224;PSS;Intellectual disability 30847515 False 3 0;100;0 1.214 False ENSG00000135365 ENSG00000135365 HGNC:24156 PHF6 gene PHF6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Borjeson-Forssman-Lehmann syndrome, 301900 30847515 False 3 0;100;0 1.214 False ENSG00000156531 ENSG00000156531 HGNC:18145 PHF8 gene PHF8 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation syndrome, X-linked, Siderius type, 300263 30847515 False 3 0;100;0 1.214 False ENSG00000172943 ENSG00000172943 HGNC:20672 PHGDH gene PHGDH Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Phosphoglycerate dehydrogenase deficiency, 601815;Neu-Laxova syndrome 1, 256520 30847515 False 3 0;100;0 1.214 False ENSG00000092621 ENSG00000092621 HGNC:8923 PHIP gene PHIP Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental delay, intellectual disability, obesity, and dysmorphism, 617991 30847515 False 3 0;100;0 1.214 False ENSG00000146247 ENSG00000146247 HGNC:15673 PHKA1 gene PHKA1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Muscle glycogenosis, 300559 30847515 False 3 0;100;0 1.214 False ENSG00000067177 ENSG00000067177 HGNC:8925 PHKA2 gene PHKA2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Glycogen storage disease, type IXa1, 306000;Glycogen storage disease, type IXa2, 306000 30847515 False 3 0;100;0 1.214 False ENSG00000044446 ENSG00000044446 HGNC:8926 PHKB gene PHKB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, 261750 30847515 False 3 0;100;0 1.214 False ENSG00000102893 ENSG00000102893 HGNC:8927 PHKG2 gene PHKG2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Glycogen storage disease IXc, 613027;Cirrhosis due to liver phosphorylase kinase deficiency 30847515 False 3 0;100;0 1.214 False ENSG00000156873 ENSG00000156873 HGNC:8931 PHOX2B gene PHOX2B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neuroblastoma with Hirschsprung disease, 613013;Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 30847515 False 3 0;100;0 1.214 False ENSG00000109132 ENSG00000109132 HGNC:9143 PHYH gene PHYH Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Refsum disease, 266500 30847515 False 3 0;100;0 1.214 False ENSG00000107537 ENSG00000107537 HGNC:8940 PIEZO1 gene PIEZO1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380;Lymphatic malformation 6, 616843 30847515 False 3 0;100;0 1.214 False ENSG00000103335 ENSG00000103335 HGNC:28993 PIEZO2 gene PIEZO2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Marden-Walker syndrome, 248700;Arthrogryposis, distal, type 3, 114300;Arthrogryposis, distal, type 5, 108145;Arthrogryposis, distal, with impaired proprioception and touch, 617146 30847515 False 3 0;100;0 1.214 False ENSG00000154864 ENSG00000154864 HGNC:26270 PIGA gene PIGA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868 30847515 False 3 0;100;0 1.214 False ENSG00000165195 ENSG00000165195 HGNC:8957 PIGB gene PIGB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 80, 618580 30847515 False 3 0;100;0 1.214 False ENSG00000069943 ENSG00000069943 HGNC:8959 PIGC gene PIGC Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 16, 617816 30847515 False 3 0;100;0 1.214 False ENSG00000135845 ENSG00000135845 HGNC:8960 PIGG gene PIGG Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 53, 616917 30847515 False 3 0;100;0 1.214 False ENSG00000174227 ENSG00000174227 HGNC:25985 PIGH gene PIGH Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 17, 618010 30847515 False 3 0;100;0 1.214 False ENSG00000100564 ENSG00000100564 HGNC:8964 PIGL gene PIGL Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal CHIME syndrome, 280000 30847515 False 3 0;100;0 1.214 False ENSG00000108474 ENSG00000108474 HGNC:8966 PIGN gene PIGN Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 30847515 False 3 0;100;0 1.214 False ENSG00000197563 ENSG00000197563 HGNC:8967 PIGO gene PIGO Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 2, 614749 30847515 False 3 0;100;0 1.214 False ENSG00000165282 ENSG00000165282 HGNC:23215 PIGQ gene PIGQ Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 77, 618548 30847515 False 3 0;100;0 1.214 False ENSG00000007541 ENSG00000007541 HGNC:14135 PIGT gene PIGT Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Paroxysmal nocturnal hemoglobinuria 2, 615399;Multiple congenital anomalies-hypotonia-seizures syndrome 3, 615398 30847515 False 3 0;100;0 1.214 False ENSG00000124155 ENSG00000124155 HGNC:14938 PIGU gene PIGU Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 21, 618590 30847515 False 3 0;100;0 1.214 False ENSG00000101464 ENSG00000101464 HGNC:15791 PIGV gene PIGV Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 1, 239300 30847515 False 3 0;100;0 1.214 False ENSG00000060642 ENSG00000060642 HGNC:26031 PIGW gene PIGW Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 11, 616025 30847515 False 3 0;100;0 1.214 False ENSG00000184886 ENSG00000277161 HGNC:23213 PIK3CA gene PIK3CA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PIK3CA-related Overgrowth Spectrum 30847515 False 3 0;100;0 1.214 False ENSG00000121879 ENSG00000121879 HGNC:8975 PIK3CD gene PIK3CD Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Immunodeficiency 14, 615513 30847515 False 3 0;100;0 1.214 False ENSG00000171608 ENSG00000171608 HGNC:8977 PIK3R1 gene PIK3R1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Immunodeficiency 36, 616005;SHORT syndrome, 269880;?Agammaglobulinemia 7, autosomal recessive, 615214 30847515 False 3 0;100;0 1.214 False ENSG00000145675 ENSG00000145675 HGNC:8979 PIK3R2 gene PIK3R2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387 30847515 False 3 0;100;0 1.214 False ENSG00000105647 ENSG00000105647 HGNC:8980 PINK1 gene PINK1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Parkinson disease 6, early onset, 605909 30847515 False 3 0;100;0 1.214 False ENSG00000158828 ENSG00000158828 HGNC:14581 PITRM1 gene PITRM1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ataxia;Intellectual disability 30847515 False 3 0;100;0 1.214 False ENSG00000107959 ENSG00000107959 HGNC:17663 PITX1 gene PITX1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, 119800;Liebenberg syndrome, 186550 30847515 False 3 0;100;0 1.214 False ENSG00000069011 ENSG00000069011 HGNC:9004 PITX2 gene PITX2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Axenfeld-Rieger syndrome, type 1, 180500;Anterior segment dysgenesis 4, 137600;Ring dermoid of cornea, 180550 30847515 False 3 0;100;0 1.214 False ENSG00000164093 ENSG00000164093 HGNC:9005 PITX3 gene PITX3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cataract 11, multiple types, 610623;Anterior segment dysgenesis 1, multiple subtypes, 107250;Cataract 11, syndromic, autosomal recessive, 610623 30847515 False 3 0;100;0 1.214 False ENSG00000107859 ENSG00000107859 HGNC:9006 PKD1 gene PKD1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic kidney disease 1, 173900 30847515 False 3 0;100;0 1.214 False ENSG00000008710 ENSG00000008710 HGNC:9008 PKD1L1 gene PKD1L1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Heterotaxy, visceral, 8, autosomal, 617205 30847515 False 3 0;100;0 1.214 False ENSG00000158683 ENSG00000158683 HGNC:18053 PKD2 gene PKD2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic kidney disease 2, 613095 30847515 False 3 0;100;0 1.214 False ENSG00000118762 ENSG00000118762 HGNC:9009 PKHD1 gene PKHD1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Polycystic kidney disease 4, with or without hepatic disease, 263200 30847515 False 3 0;100;0 1.214 False ENSG00000170927 ENSG00000170927 HGNC:9016 PKLR gene PKLR Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Adenosine triphosphate, elevated, of erythrocytes, 102900;Pyruvate kinase deficiency, 266200 30847515 False 3 0;100;0 1.214 False ENSG00000143627 ENSG00000143627 HGNC:9020 PLA2G4A gene PLA2G4A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Gastrointestinal ulceration, recurrent, with dysfunctional platelets, 618372 30847515 False 3 0;100;0 1.214 False ENSG00000116711 ENSG00000116711 HGNC:9035 PLA2G6 gene PLA2G6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Infantile neuroaxonal dystrophy 1, 256600;Parkinson disease 14, autosomal recessive, 612953;Neurodegeneration with brain iron accumulation 2B, 610217 30847515 False 3 0;100;0 1.214 False ENSG00000184381 ENSG00000184381 HGNC:9039 PLAA gene PLAA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, 617527 30847515 False 3 0;100;0 1.214 False ENSG00000137055 ENSG00000137055 HGNC:9043 PLAU gene PLAU Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Quebec platelet disorder, 601709 30847515 False 3 0;100;0 1.214 False ENSG00000122861 ENSG00000122861 HGNC:9052 PLCB1 gene PLCB1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 12, 613722 30847515 False 3 0;100;0 1.214 False ENSG00000182621 ENSG00000182621 HGNC:15917 PLCE1 gene PLCE1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 3, 610725 30847515 False 3 0;100;0 1.214 False ENSG00000138193 ENSG00000138193 HGNC:17175 PLCG2 gene PLCG2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autoinflammation, antibody deficiency, and immune dysregulation syndrome, OMIM:614878;Familial cold autoinflammatory syndrome 3, OMIM:614468 30847515 False 3 0;100;0 1.214 False ENSG00000197943 ENSG00000197943 HGNC:9066 PLEC gene PLEC Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 17, 613723;Epidermolysis bullosa simplex with muscular dystrophy, 226670;?Epidermolysis bullosa simplex with nail dystrophy, 616487;Epidermolysis bullosa simplex, Ogna type, 131950;Epidermolysis bullosa simplex with pyloric atresia, 612138 30847515 False 3 0;100;0 1.214 False ENSG00000178209 ENSG00000178209 HGNC:9069 PLG gene PLG Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Plasminogen deficiency, type I, 217090;Dysplasminogenemia, 217090 30847515 False 3 0;100;0 1.214 False ENSG00000122194 ENSG00000122194 HGNC:9071 PLK4 gene PLK4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly and chorioretinopathy, autosomal recessive, 2, 616171 30847515 False 3 0;100;0 1.214 False ENSG00000142731 ENSG00000142731 HGNC:11397 PLOD1 gene PLOD1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, kyphoscoliotic type, 1, 225400 30847515 False 3 0;100;0 1.214 False ENSG00000083444 ENSG00000083444 HGNC:9081 PLOD2 gene PLOD2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Bruck syndrome 2, 609220 30847515 False 3 0;100;0 1.214 False ENSG00000152952 ENSG00000152952 HGNC:9082 PLP1 gene PLP1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Pelizaeus-Merzbacher disease, 312080;Spastic paraplegia 2, X-linked, 312920 30847515 False 3 0;100;0 1.214 False ENSG00000123560 ENSG00000123560 HGNC:9086 PLPBP gene PLPBP Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, early-onset, vitamin B6-dependent, 617290 30847515 False 3 0;100;0 1.214 False ENSG00000147471 ENSG00000147471 HGNC:9457 PLS3 gene PLS3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Bone mineral density QTL18, osteoporosis, 300910 30847515 False 3 0;100;0 1.214 False ENSG00000102024 ENSG00000102024 HGNC:9091 PMM2 gene PMM2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ia, 212065 30847515 False 3 0;100;0 1.214 False ENSG00000140650 ENSG00000140650 HGNC:9115 PMP22 gene PMP22 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 1E, 118300;?Neuropathy, inflammatory demyelinating, 139393;Dejerine-Sottas disease, 145900;Roussy-Levy syndrome, 180800;Neuropathy, recurrent, with pressure palsies, 162500;Charcot-Marie-Tooth disease, type 1A, 118220 30847515 False 3 0;100;0 1.214 False ENSG00000109099 ENSG00000109099 HGNC:9118 PMPCA gene PMPCA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 2, 213200 30847515 False 3 0;100;0 1.214 False ENSG00000165688 ENSG00000165688 HGNC:18667 PMPCB gene PMPCB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 6, 617954 30847515 False 3 0;100;0 1.214 False ENSG00000105819 ENSG00000105819 HGNC:9119 PMS2 gene PMS2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual disability, developmental delay 30847515 False 3 0;100;0 1.214 False ENSG00000122512 ENSG00000122512 HGNC:9122 PNKD gene PNKD Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Paroxysmal nonkinesigenic dyskinesia 1, 118800 30847515 False 3 0;100;0 1.214 False ENSG00000127838 ENSG00000127838 HGNC:9153 PNKP gene PNKP Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, seizures, and developmental delay, 613402;Ataxia-oculomotor apraxia 4, 616267 30847515 False 3 0;100;0 1.214 False ENSG00000039650 ENSG00000039650 HGNC:9154 PNP gene PNP Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 30847515 False 3 0;100;0 1.214 False ENSG00000198805 ENSG00000198805 HGNC:7892 PNPLA6 gene PNPLA6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Laurence-Moon syndrome, 245800;Spastic paraplegia 39, autosomal recessive, 612020;Boucher-Neuhauser syndrome, 215470;Oliver-McFarlane syndrome, 275400 30847515 False 3 0;100;0 1.214 False ENSG00000032444 ENSG00000032444 HGNC:16268 PNPO gene PNPO Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Pyridoxamine 5'-phosphate oxidase deficiency, 610090 30847515 False 3 0;100;0 1.214 False ENSG00000108439 ENSG00000108439 HGNC:30260 PNPT1 gene PNPT1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 13, 614932;Deafness, autosomal recessive 70, 614934 30847515 False 3 0;100;0 1.214 False ENSG00000138035 ENSG00000138035 HGNC:23166 POC1A gene POC1A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 30847515 False 3 0;100;0 1.214 False ENSG00000164087 ENSG00000164087 HGNC:24488 POC1B gene POC1B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 20, 615973 30847515 False 3 0;100;0 1.214 False ENSG00000139323 ENSG00000139323 HGNC:30836 POGZ gene POGZ Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown White-Sutton syndrome, 616364 30847515 False 3 0;100;0 1.214 False ENSG00000143442 ENSG00000143442 HGNC:18801 POLA1 gene POLA1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Van Esch-O'Driscoll syndrome, 301030;Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220 30847515 False 3 0;100;0 1.214 False ENSG00000101868 ENSG00000101868 HGNC:9173 POLD1 gene POLD1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 30847515 False 3 0;100;0 1.214 False ENSG00000062822 ENSG00000062822 HGNC:9175 POLE gene POLE Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal IMAGE-I syndrome, 618336;FILS syndrome, 615139 30847515 False 3 0;100;0 1.214 False ENSG00000177084 ENSG00000177084 HGNC:9177 POLG gene POLG Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459;Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662;Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700;Progressive external ophthalmoplegia, autosomal recessive 1, 258450;Progressive external ophthalmoplegia, autosomal dominant 1, 157640 30847515 False 3 0;100;0 1.214 False ENSG00000140521 ENSG00000140521 HGNC:9179 POLG2 gene POLG2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131;Mitochondrial DNA depletion syndrome 16 (hepatic type), 618528 30847515 False 3 0;100;0 1.214 False ENSG00000256525 ENSG00000256525 HGNC:9180 POLH gene POLH Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, variant type, 278750 30847515 False 3 0;100;0 1.214 False ENSG00000170734 ENSG00000170734 HGNC:9181 POLR1A gene POLR1A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Acrofacial dysostosis, Cincinnati type, 616462 30847515 False 3 0;100;0 1.214 False ENSG00000068654 ENSG00000068654 HGNC:17264 POLR1C gene POLR1C Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Treacher Collins syndrome 3, 248390;Leukodystrophy, hypomyelinating, 11, 616494 30847515 False 3 0;100;0 1.214 False ENSG00000171453 ENSG00000171453 HGNC:20194 POLR1D gene POLR1D Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Treacher Collins syndrome 2, 613717 30847515 False 3 0;100;0 1.214 False ENSG00000186184 ENSG00000186184 HGNC:20422 POLR2A gene POLR2A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, 618603 30847515 False 3 0;100;0 1.214 False ENSG00000181222 ENSG00000181222 HGNC:9187 POLR3A gene POLR3A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694;Wiedemann-Rautenstrauch syndrome, 264090 30847515 False 3 0;100;0 1.214 False ENSG00000148606 ENSG00000148606 HGNC:30074 POLR3B gene POLR3B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 30847515 False 3 0;100;0 1.214 False ENSG00000013503 ENSG00000013503 HGNC:30348 POMGNT1 gene POMGNT1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157;Retinitis pigmentosa 76, 617123 30847515 False 3 0;100;0 1.214 False ENSG00000085998 ENSG00000085998 HGNC:19139 POMGNT2 gene POMGNT2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830;Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, 618135 30847515 False 3 0;100;0 1.214 False ENSG00000144647 ENSG00000144647 HGNC:25902 POMK gene POMK Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249;?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, 616094 30847515 False 3 0;100;0 1.214 False ENSG00000185900 ENSG00000185900 HGNC:26267 POMT1 gene POMT1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155 30847515 False 3 0;100;0 1.214 False ENSG00000130714 ENSG00000130714 HGNC:9202 POMT2 gene POMT2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156 30847515 False 3 0;100;0 1.214 False ENSG00000009830 ENSG00000009830 HGNC:19743 POP1 gene POP1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Anauxetic dysplasia 2, 617396 30847515 False 3 0;100;0 1.214 False ENSG00000104356 ENSG00000104356 HGNC:30129 POR gene POR Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571;Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 30847515 False 3 0;100;0 1.214 False ENSG00000127948 ENSG00000127948 HGNC:9208 PORCN gene PORCN Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Focal dermal hypoplasia, 305600 30847515 False 3 0;100;0 1.214 False ENSG00000102312 ENSG00000102312 HGNC:17652 POU1F1 gene POU1F1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Pituitary hormone deficiency, combined, 1, 613038 30847515 False 3 0;100;0 1.214 False ENSG00000064835 ENSG00000064835 HGNC:9210 POU3F3 gene POU3F3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Snijders Blok-Fisher syndrome, 618604 30847515 False 3 0;100;0 1.214 False ENSG00000198914 ENSG00000198914 HGNC:9216 POU3F4 gene POU3F4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Deafness, X-linked 2, 304400 30847515 False 3 0;100;0 1.214 False ENSG00000196767 ENSG00000196767 HGNC:9217 POU4F3 gene POU4F3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Deafness, autosomal dominant 15, 602459 30847515 False 3 0;100;0 1.214 False ENSG00000091010 ENSG00000091010 HGNC:9220 PPA2 gene PPA2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Sudden cardiac failure, infantile, 617222 30847515 False 3 0;100;0 1.214 False ENSG00000138777 ENSG00000138777 HGNC:28883 PPIB gene PPIB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type IX, 259440 30847515 False 3 0;100;0 1.214 False ENSG00000166794 ENSG00000166794 HGNC:9255 PPM1D gene PPM1D Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Jansen de Vries syndrome, 617450 30847515 False 3 0;100;0 1.214 False ENSG00000170836 ENSG00000170836 HGNC:9277 PPOX gene PPOX Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Porphyria variegata, 176200 30847515 False 3 50;50;0 1.214 False ENSG00000143224 ENSG00000143224 HGNC:9280 PPP1CB gene PPP1CB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome-like disorder with loose anagen hair 2, 617506 30847515 False 3 0;100;0 1.214 False ENSG00000213639 ENSG00000213639 HGNC:9282 PPP1R15B gene PPP1R15B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, short stature, and impaired glucose metabolism 2, 616817 30847515 False 3 0;100;0 1.214 False ENSG00000158615 ENSG00000158615 HGNC:14951 PPP1R21 gene PPP1R21 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Generalized hypotonia, Feeding difficulties, Profound global developmental delay, Abnormality of the face, Abnormality of vision, Abnormal heart morphology;Hepatosplenomegaly;Abnormality of the respiratory system 30847515 False 3 0;100;0 1.214 False ENSG00000162869 ENSG00000162869 HGNC:30595 PPP2CA gene PPP2CA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder and language delay with or without structural brain abnormalities, 618354 30847515 False 3 0;100;0 1.214 False ENSG00000113575 ENSG00000113575 HGNC:9299 PPP2R1A gene PPP2R1A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 36, 616362 30847515 False 3 0;100;0 1.214 False ENSG00000105568 ENSG00000105568 HGNC:9302 PPP2R2B gene PPP2R2B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 12, 604326 30847515 False 3 0;100;0 1.214 False ENSG00000156475 ENSG00000156475 HGNC:9305 PPP2R5D gene PPP2R5D Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 35, 616355 30847515 False 3 0;100;0 1.214 False ENSG00000112640 ENSG00000112640 HGNC:9312 PPP3CA gene PPP3CA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, 618265;Epileptic encephalopathy, infantile or early childhood, 1, 617711 30847515 False 3 0;100;0 1.214 False ENSG00000138814 ENSG00000138814 HGNC:9314 PPT1 gene PPT1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 1, 256730 30847515 False 3 0;100;0 1.214 False ENSG00000131238 ENSG00000131238 HGNC:9325 PQBP1 gene PQBP1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Renpenning syndrome, 309500 30847515 False 3 0;100;0 1.214 False ENSG00000102103 ENSG00000102103 HGNC:9330 PRDM12 gene PRDM12 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory and autonomic, type VIII, 616488 30847515 False 3 0;100;0 1.214 False ENSG00000130711 ENSG00000130711 HGNC:13997 PRF1 gene PRF1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hemophagocytic lymphohistiocytosis, familial, 2, 603553;Lymphoma, non-Hodgkin, 605027;Aplastic anemia, 609135 30847515 False 3 0;100;0 1.214 False ENSG00000180644 ENSG00000180644 HGNC:9360 PRG4 gene PRG4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 30847515 False 3 0;100;0 1.214 False ENSG00000116690 ENSG00000116690 HGNC:9364 PRICKLE1 gene PRICKLE1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1B, 612437 30847515 False 3 0;100;0 1.214 False ENSG00000139174 ENSG00000139174 HGNC:17019 PRKAG2 gene PRKAG2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Glycogen storage disease of heart, lethal congenital, 261740;Cardiomyopathy, hypertrophic 6, 600858;Wolff-Parkinson-White syndrome, 194200 30847515 False 3 0;100;0 1.214 False ENSG00000106617 ENSG00000106617 HGNC:9386 PRKAR1A gene PRKAR1A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pigmented nodular adrenocortical disease, primary, 1, 610489;Carney complex, type 1, 160980;Acrodysostosis 1, with or without hormone resistance, 101800;Myxoma, intracardiac, 255960 30847515 False 3 0;100;0 1.214 False ENSG00000108946 ENSG00000108946 HGNC:9388 PRKCD gene PRKCD Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Autoimmune lymphoproliferative syndrome, type III, 615559 30847515 False 3 0;100;0 1.214 False ENSG00000163932 ENSG00000163932 HGNC:9399 PRKCG gene PRKCG Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 14, 605361 30847515 False 3 0;100;0 1.214 False ENSG00000126583 ENSG00000126583 HGNC:9402 PRKD1 gene PRKD1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital heart defects and ectodermal dysplasia, 617364 30847515 False 3 0;100;0 1.214 False ENSG00000184304 ENSG00000184304 HGNC:9407 PRKDC gene PRKDC Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 26, with or without neurologic abnormalities, 615966 30847515 False 3 0;100;0 1.214 False ENSG00000253729 ENSG00000253729 HGNC:9413 PRKN gene PRKN Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Parkinson disease, juvenile, type 2, 600116 30847515 False 3 0;100;0 1.214 False ENSG00000185345 ENSG00000185345 HGNC:8607 PRKRA gene PRKRA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Dystonia 16, 612067 30847515 False 3 0;100;0 1.214 False ENSG00000180228 ENSG00000180228 HGNC:9438 PRMT7 gene PRMT7 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Short stature, brachydactyly, intellectual developmental disability, and seizures, 617157 30847515 False 3 0;100;0 1.214 False ENSG00000132600 ENSG00000132600 HGNC:25557 PROC gene PROC Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Thrombophilia due to protein C deficiency, autosomal recessive, 612304;Thrombophilia due to protein C deficiency, autosomal dominant, 176860 30847515 False 3 0;100;0 1.214 False ENSG00000115718 ENSG00000115718 HGNC:9451 PRODH gene PRODH Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hyperprolinemia, type I, OMIM;239500;hyperprolinemia type 1, MONDO:0009400 30847515 False 3 0;100;0 1.214 False ENSG00000100033 ENSG00000100033 HGNC:9453 PROKR2 gene PROKR2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypogonadotropic hypogonadism 3 with or without anosmia, 244200 30847515 False 3 0;100;0 1.214 False ENSG00000101292 ENSG00000101292 HGNC:15836 PROP1 gene PROP1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Pituitary hormone deficiency, combined, 2, 262600 30847515 False 3 0;100;0 1.214 False ENSG00000175325 ENSG00000175325 HGNC:9455 PROS1 gene PROS1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Thrombophilia due to protein S deficiency, autosomal dominant, 612336;Thrombophilia due to protein S deficiency, autosomal recessive, 614514 30847515 False 3 0;100;0 1.214 False ENSG00000184500 ENSG00000184500 HGNC:9456 PRPS1 gene PRPS1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070;Deafness, X-linked 1, 304500;Phosphoribosylpyrophosphate synthetase superactivity, 300661;Gout, PRPS-related, 300661;Arts syndrome, 301835 30847515 False 3 0;100;0 1.214 False ENSG00000147224 ENSG00000147224 HGNC:9462 PRR12 gene PRR12 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual disability and iris abnormalities 30847515 False 3 0;100;0 1.214 False ENSG00000126464 ENSG00000126464 HGNC:29217 PRRT2 gene PRRT2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Episodic kinesigenic dyskinesia 1, 128200;Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066;Seizures, benign familial infantile, 2, 605751 30847515 False 3 0;100;0 1.214 False ENSG00000167371 ENSG00000167371 HGNC:30500 PRSS12 gene PRSS12 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 1, 249500 30847515 False 3 0;100;0 1.214 False ENSG00000164099 ENSG00000164099 HGNC:9477 PRSS56 gene PRSS56 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Microphthalmia, isolated 6, 613517 30847515 False 3 0;100;0 1.214 False ENSG00000237412 ENSG00000237412 HGNC:39433 PRUNE1 gene PRUNE1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, 617481 30847515 False 3 0;100;0 1.214 False ENSG00000143363 ENSG00000143363 HGNC:13420 PRX gene PRX Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4F, 614895;Dejerine-Sottas disease, 145900 30847515 False 3 0;100;0 1.214 False ENSG00000105227 ENSG00000105227 HGNC:13797 PSAP gene PSAP Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Combined SAP deficiency, 611721;Metachromatic leukodystrophy due to SAP-b deficiency, 249900;Gaucher disease, atypical, 610539;Krabbe disease, atypical, 611722 30847515 False 3 0;100;0 1.214 False ENSG00000197746 ENSG00000197746 HGNC:9498 PSAT1 gene PSAT1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Neu-Laxova syndrome 2, 616038;?Phosphoserine aminotransferase deficiency, 610992 30847515 False 3 0;100;0 1.214 False ENSG00000135069 ENSG00000135069 HGNC:19129 PSEN1 gene PSEN1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Acne inversa, familial, 3, 613737;Alzheimer disease, type 3, 607822;Pick disease, 172700;Cardiomyopathy, dilated, 1U, 613694;Dementia, frontotemporal, 600274;Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822;Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 30847515 False 3 0;100;0 1.214 False ENSG00000080815 ENSG00000080815 HGNC:9508 PSMB8 gene PSMB8 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040 30847515 False 3 0;100;0 1.214 False ENSG00000204264 ENSG00000204264 HGNC:9545 PSMD12 gene PSMD12 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Stankiewicz-Isidor syndrome, 617516 30847515 False 3 0;100;0 1.214 False ENSG00000197170 ENSG00000197170 HGNC:9557 PSPH gene PSPH Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Phosphoserine phosphatase deficiency, 614023 30847515 False 3 0;100;0 1.214 False ENSG00000146733 ENSG00000146733 HGNC:9577 PSTPIP1 gene PSTPIP1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, OMIM:604416 30847515 False 3 0;100;0 1.214 False ENSG00000140368 ENSG00000140368 HGNC:9580 PTCH1 gene PTCH1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Basal cell nevus syndrome, 109400;Holoprosencephaly 7, 610828 30847515 False 3 0;100;0 1.214 False ENSG00000185920 ENSG00000185920 HGNC:9585 PTDSS1 gene PTDSS1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lenz-Majewski hyperostotic dwarfism, 151050 30847515 False 3 0;100;0 1.214 False ENSG00000156471 ENSG00000156471 HGNC:9587 PTEN gene PTEN Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Macrocephaly/autism syndrome, 605309;Cowden syndrome 1, 158350;Lhermitte-Duclos syndrome, 158350 30847515 False 3 0;100;0 1.214 False ENSG00000171862 ENSG00000171862 HGNC:9588 PTF1A gene PTF1A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Pancreatic agenesis 2, 615935;Pancreatic and cerebellar agenesis, 609069 30847515 False 3 0;100;0 1.214 False ENSG00000168267 ENSG00000168267 HGNC:23734 PTH1R gene PTH1R Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Eiken syndrome, 600002;Failure of tooth eruption, primary, 125350;Metaphyseal chondrodysplasia, Murk Jansen type, 156400;Chondrodysplasia, Blomstrand type, 215045 30847515 False 3 0;100;0 1.214 False ENSG00000160801 ENSG00000160801 HGNC:9608 PTHLH gene PTHLH Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brachydactyly, type E2, 613382 30847515 False 3 0;100;0 1.214 False ENSG00000087494 ENSG00000087494 HGNC:9607 PTPN11 gene PTPN11 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Metachondromatosis, 156250;Noonan syndrome 1, 163950;LEOPARD syndrome 1, 151100 30847515 False 3 0;100;0 1.214 False ENSG00000179295 ENSG00000179295 HGNC:9644 PTPN23 gene PTPN23 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Developmental epileptic encephalopathy with hypomyelination and brain atrophy;Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity MIM#618890 30847515 False 3 0;100;0 1.214 False ENSG00000076201 ENSG00000076201 HGNC:14406 PTPRC gene PTPRC Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, 608971 30847515 False 3 0;100;0 1.214 False ENSG00000081237 ENSG00000081237 HGNC:9666 PTS gene PTS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, A, 261640 30847515 False 3 0;100;0 1.214 False ENSG00000150787 ENSG00000150787 HGNC:9689 PUF60 gene PUF60 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Verheij syndrome, 615583 30847515 False 3 0;100;0 1.214 False ENSG00000179950 ENSG00000179950 HGNC:17042 PUM1 gene PUM1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 47, 617931 30847515 False 3 0;100;0 1.214 False ENSG00000134644 ENSG00000134644 HGNC:14957 PURA gene PURA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 31, 616158 30847515 False 3 0;100;0 1.214 False ENSG00000185129 ENSG00000185129 HGNC:9701 PUS1 gene PUS1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, lactic acidosis, and sideroblastic anemia 1, 600462 30847515 False 3 0;100;0 1.214 False ENSG00000177192 ENSG00000177192 HGNC:15508 PUS3 gene PUS3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 55, 617051 30847515 False 3 0;100;0 1.214 False ENSG00000110060 ENSG00000110060 HGNC:25461 PUS7 gene PUS7 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature, 618342 30847515 False 3 0;100;0 1.214 False ENSG00000091127 ENSG00000091127 HGNC:26033 PYCR1 gene PYCR1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIB, 612940;Cutis laxa, autosomal recessive, type IIIB, 614438 30847515 False 3 0;100;0 1.214 False ENSG00000183010 ENSG00000183010 HGNC:9721 PYCR2 gene PYCR2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 10, 616420 30847515 False 3 0;100;0 1.214 False ENSG00000143811 ENSG00000143811 HGNC:30262 PYGL gene PYGL Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease VI, 232700 30847515 False 3 0;100;0 1.214 False ENSG00000100504 ENSG00000100504 HGNC:9725 PYGM gene PYGM Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal McArdle disease, 232600 30847515 False 3 0;100;0 1.214 False ENSG00000068976 ENSG00000068976 HGNC:9726 QARS gene QARS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760 30847515 False 3 0;100;0 1.214 False ENSG00000172053 ENSG00000172053 HGNC:9751 QDPR gene QDPR Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, C, 261630 30847515 False 3 0;100;0 1.214 False ENSG00000151552 ENSG00000151552 HGNC:9752 QRICH1 gene QRICH1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ververi-Brady syndrome, 617982 30847515 False 3 0;100;0 1.214 False ENSG00000198218 ENSG00000198218 HGNC:24713 QRSL1 gene QRSL1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Combined oxidative phosphorylation deficiency 40, 618835 30847515 False 3 0;100;0 1.214 False ENSG00000130348 ENSG00000130348 HGNC:21020 RAB11B gene RAB11B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, 617807 30847515 False 3 0;100;0 1.214 False ENSG00000185236 ENSG00000185236 HGNC:9761 RAB18 gene RAB18 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 3, 614222 30847515 False 3 0;100;0 1.214 False ENSG00000099246 ENSG00000099246 HGNC:14244 RAB23 gene RAB23 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Carpenter syndrome, 201000 30847515 False 3 0;100;0 1.214 False ENSG00000112210 ENSG00000112210 HGNC:14263 RAB27A gene RAB27A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Griscelli syndrome, type 2, 607624 30847515 False 3 0;100;0 1.214 False ENSG00000069974 ENSG00000069974 HGNC:9766 RAB33B gene RAB33B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Smith-McCort dysplasia 2, 615222 30847515 False 3 0;100;0 1.214 False ENSG00000172007 ENSG00000172007 HGNC:16075 RAB39B gene RAB39B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked 72, 300271;Waisman syndrome, 311510 30847515 False 3 0;100;0 1.214 False ENSG00000155961 ENSG00000155961 HGNC:16499 RAB3GAP1 gene RAB3GAP1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 1, 600118 30847515 False 3 0;100;0 1.214 False ENSG00000115839 ENSG00000115839 HGNC:17063 RAB3GAP2 gene RAB3GAP2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 2, 614225;Martsolf syndrome, 212720 30847515 False 3 0;100;0 1.214 False ENSG00000118873 ENSG00000118873 HGNC:17168 RAB7A gene RAB7A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot-Marie-Tooth disease, type 2B, 600882 30847515 False 3 0;100;0 1.214 False ENSG00000075785 ENSG00000075785 HGNC:9788 RAC1 gene RAC1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 48, 617751 30847515 False 3 0;100;0 1.214 False ENSG00000136238 ENSG00000136238 HGNC:9801 RAC2 gene RAC2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neutrophil immunodeficiency syndrome, 608203 30847515 False 3 0;100;0 1.214 False ENSG00000128340 ENSG00000128340 HGNC:9802 RAC3 gene RAC3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, 618577 30847515 False 3 0;100;0 1.214 False ENSG00000169750 ENSG00000169750 HGNC:9803 RAD21 gene RAD21 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Mungan syndrome, 611376;Cornelia de Lange syndrome 4, 614701 30847515 False 3 0;100;0 1.214 False ENSG00000164754 ENSG00000164754 HGNC:9811 RAF1 gene RAF1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Noonan syndrome 5, 611553;Cardiomyopathy, dilated, 1NN, 615916;LEOPARD syndrome 2, 611554 30847515 False 3 0;100;0 1.214 False ENSG00000132155 ENSG00000132155 HGNC:9829 RAG1 gene RAG1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Omenn syndrome, 603554;Combined cellular and humoral immune defects with granulomas, 233650;Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, 609889;Severe combined immunodeficiency, B cell-negative, 601457 30847515 False 3 0;100;0 1.214 False ENSG00000166349 ENSG00000166349 HGNC:9831 RAG2 gene RAG2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Omenn syndrome, 603554;Combined cellular and humoral immune defects with granulomas, 233650;Severe combined immunodeficiency, B cell-negative, 601457 30847515 False 3 0;100;0 1.214 False ENSG00000175097 ENSG00000175097 HGNC:9832 RAI1 gene RAI1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Smith-Magenis syndrome, 182290 30847515 False 3 0;100;0 1.214 False ENSG00000108557 ENSG00000108557 HGNC:9834 RALA gene RALA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global developmental delay, Intellectual disability, Seizures, Abnormality of nervous system morphology;Global developmental delay;Abnormality of nervous system morphology;Seizures;Intellectual disability 30847515 False 3 0;100;0 1.214 False ENSG00000006451 ENSG00000006451 HGNC:9839 RAPSN gene RAPSN Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Fetal akinesia deformation sequence 2, 618388;Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326 30847515 False 3 0;100;0 1.214 False ENSG00000165917 ENSG00000165917 HGNC:9863 RARB gene RARB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Microphthalmia, syndromic 12, 615524 30847515 False 3 0;100;0 1.214 False ENSG00000077092 ENSG00000077092 HGNC:9865 RARS gene RARS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 9, 616140 30847515 False 3 0;100;0 1.214 False ENSG00000113643 ENSG00000113643 HGNC:9870 RARS2 gene RARS2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 6, 611523 30847515 False 3 0;100;0 1.214 False ENSG00000146282 ENSG00000146282 HGNC:21406 RASA1 gene RASA1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Capillary malformation-arteriovenous malformation 1, 608354 30847515 False 3 0;100;0 1.214 False ENSG00000145715 ENSG00000145715 HGNC:9871 RASGRP1 gene RASGRP1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 64, 618534 30847515 False 3 0;100;0 1.214 False ENSG00000172575 ENSG00000172575 HGNC:9878 RASGRP2 gene RASGRP2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Bleeding disorder, platelet-type, 18, 615888 30847515 False 3 0;100;0 1.214 False ENSG00000068831 ENSG00000068831 HGNC:9879 RAX gene RAX Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Microphthalmia, isolated 3, 611038 30847515 False 3 0;100;0 1.214 False ENSG00000134438 ENSG00000134438 HGNC:18662 RBBP8 gene RBBP8 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Pancreatic carcinoma, somatic;Jawad syndrome, 251255;Seckel syndrome 2, 606744 30847515 False 3 0;100;0 1.214 False ENSG00000101773 ENSG00000101773 HGNC:9891 RBCK1 gene RBCK1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Polyglucosan body myopathy 1 with or without immunodeficiency, 615895 30847515 False 3 0;100;0 1.214 False ENSG00000125826 ENSG00000125826 HGNC:15864 RBM10 gene RBM10 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females TARP syndrome, 311900 30847515 False 3 0;100;0 1.214 False ENSG00000182872 ENSG00000182872 HGNC:9896 RBM8A gene RBM8A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Thrombocytopenia-absent radius syndrome, 274000 30847515 False 3 0;100;0 1.214 False ENSG00000131795 ENSG00000265241 HGNC:9905 RBPJ gene RBPJ Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Adams-Oliver syndrome 3, 614814 30847515 False 3 0;100;0 1.214 False ENSG00000168214 ENSG00000168214 HGNC:5724 RECQL4 gene RECQL4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal RAPADILINO syndrome, 266280;Baller-Gerold syndrome, 218600;Rothmund-Thomson syndrome, type 2,, 268400 30847515 False 3 0;100;0 1.214 False ENSG00000160957 ENSG00000160957 HGNC:9949 REEP1 gene REEP1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Neuronopathy, distal hereditary motor, type VB, 614751;Spastic paraplegia 31, autosomal dominant, 610250 30847515 False 3 0;100;0 1.214 False ENSG00000068615 ENSG00000068615 HGNC:25786 RELN gene RELN Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Lissencephaly 2 (Norman-Roberts type), 257320 30847515 False 3 0;100;0 1.214 False ENSG00000189056 ENSG00000189056 HGNC:9957 REN gene REN Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperuricemic nephropathy, familial juvenile 2, 613092;Renal tubular dysgenesis, 267430 30847515 False 3 0;100;0 1.214 False ENSG00000143839 ENSG00000143839 HGNC:9958 RERE gene RERE Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, 616975 30847515 False 3 0;100;0 1.214 False ENSG00000142599 ENSG00000142599 HGNC:9965 RET gene RET Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Central hypoventilation syndrome, congenital, 209880 30847515 False 3 0;100;0 1.214 False ENSG00000165731 ENSG00000165731 HGNC:9967 RETREG1 gene RETREG1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory and autonomic, type IIB, 613115 30847515 False 3 0;100;0 1.214 False ENSG00000154153 ENSG00000154153 HGNC:25964 RFT1 gene RFT1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type In, 612015 30847515 False 3 0;100;0 1.214 False ENSG00000163933 ENSG00000163933 HGNC:30220 RFX5 gene RFX5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Bare lymphocyte syndrome, type II, complementation group E, 209920;Bare lymphocyte syndrome, type II, complementation group C, 209920 30847515 False 3 0;100;0 1.214 False ENSG00000143390 ENSG00000143390 HGNC:9986 RFX6 gene RFX6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mitchell-Riley syndrome, 615710 30847515 False 3 0;100;0 1.214 False ENSG00000185002 ENSG00000185002 HGNC:21478 RFXANK gene RFXANK Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal MHC class II deficiency, complementation group B, 209920 30847515 False 3 0;100;0 1.214 False ENSG00000064490 ENSG00000064490 HGNC:9987 RFXAP gene RFXAP Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Bare lymphocyte syndrome, type II, complementation group D, 209920 30847515 False 3 0;100;0 1.214 False ENSG00000133111 ENSG00000133111 HGNC:9988 RHAG gene RHAG Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Overhydrated hereditary stomatocytosis, 185000;Anemia, hemolytic, Rh-null, regulator type, 268150 30847515 False 3 0;100;0 1.214 False ENSG00000112077 ENSG00000112077 HGNC:10006 RHOBTB2 gene RHOBTB2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 64, 618004 30847515 False 3 0;100;0 1.214 False ENSG00000008853 ENSG00000008853 HGNC:18756 RIPK1 gene RIPK1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 57, 618108 30847515 False 3 0;100;0 1.214 False ENSG00000137275 ENSG00000137275 HGNC:10019 RIPK4 gene RIPK4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Popliteal pterygium syndrome, Bartsocas-Papas type, 263650;CHAND syndrome, 214350 30847515 False 3 0;100;0 1.214 False ENSG00000183421 ENSG00000183421 HGNC:496 RIT1 gene RIT1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 8, 615355 30847515 False 3 0;100;0 1.214 False ENSG00000143622 ENSG00000143622 HGNC:10023 RLIM gene RLIM Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Tonne-Kalscheuer syndrome, 300978 30847515 False 3 0;100;0 1.214 False ENSG00000131263 ENSG00000131263 HGNC:13429 RMND1 gene RMND1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 11, 614922 30847515 False 3 0;100;0 1.214 False ENSG00000155906 ENSG00000155906 HGNC:21176 RMRP gene RMRP Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Cartilage-hair hypoplasia, 250250;Anauxetic dysplasia 1, 607095;Metaphyseal dysplasia without hypotrichosis, 250460 30847515 False 3 0;100;0 1.214 False ENSG00000269900 ENSG00000269900 HGNC:10031 RNASEH1 gene RNASEH1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2, 616479 30847515 False 3 0;100;0 1.214 False ENSG00000171865 ENSG00000171865 HGNC:18466 RNASEH2A gene RNASEH2A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 4, 610333 30847515 False 3 0;100;0 1.214 False ENSG00000104889 ENSG00000104889 HGNC:18518 RNASEH2B gene RNASEH2B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 2, 610181 30847515 False 3 0;100;0 1.214 False ENSG00000136104 ENSG00000136104 HGNC:25671 RNASEH2C gene RNASEH2C Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 3, 610329 30847515 False 3 0;100;0 1.214 False ENSG00000172922 ENSG00000172922 HGNC:24116 RNASET2 gene RNASET2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, cystic, without megalencephaly, 612951 30847515 False 3 0;100;0 1.214 False ENSG00000026297 ENSG00000026297 HGNC:21686 RNF125 gene RNF125 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tenorio syndrome, 616260 30847515 False 3 0;100;0 1.214 False ENSG00000101695 ENSG00000101695 HGNC:21150 RNF168 gene RNF168 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal RIDDLE syndrome, 611943 30847515 False 3 0;100;0 1.214 False ENSG00000163961 ENSG00000163961 HGNC:26661 RNF170 gene RNF170 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ataxia, sensory, 1, autosomal dominant, 608984 30847515 False 3 0;100;0 1.214 False ENSG00000120925 ENSG00000120925 HGNC:25358 RNF216 gene RNF216 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 30847515 False 3 0;100;0 1.214 False ENSG00000011275 ENSG00000011275 HGNC:21698 RNU4ATAC gene RNU4ATAC Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Microcephalic osteodysplastic primordial dwarfism, type I, 210710;Roifman syndrome, 616651 30847515 False 3 0;100;0 1.214 False ENSG00000264229 ENSG00000264229 HGNC:34016 ROBO1 gene ROBO1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown tetralogy of Fallot and septal defects 30847515 False 3 0;100;0 1.214 False ENSG00000169855 ENSG00000169855 HGNC:10249 ROBO3 gene ROBO3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 30847515 False 3 0;100;0 1.214 False ENSG00000154134 ENSG00000154134 HGNC:13433 ROGDI gene ROGDI Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Kohlschutter-Tonz syndrome, 226750 30847515 False 3 0;100;0 1.214 False ENSG00000067836 ENSG00000067836 HGNC:29478 ROR2 gene ROR2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Robinow syndrome, autosomal recessive, 268310;Brachydactyly, type B1, 113000 30847515 False 3 0;100;0 1.214 False ENSG00000169071 ENSG00000169071 HGNC:10257 RORA gene RORA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060 30847515 False 3 0;100;0 1.214 False ENSG00000069667 ENSG00000069667 HGNC:10258 RORB gene RORB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Epilepsy, idiopathic generalized, susceptibility to, 15}, 618357 30847515 False 3 0;100;0 1.214 False ENSG00000198963 ENSG00000198963 HGNC:10259 RORC gene RORC Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 42, 616622 30847515 False 3 0;100;0 1.214 False ENSG00000143365 ENSG00000143365 HGNC:10260 RPE65 gene RPE65 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 2, 204100;Retinitis pigmentosa 20, 613794 30847515 False 3 0;100;0 1.214 False ENSG00000116745 ENSG00000116745 HGNC:10294 RPGR gene RPGR Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Retinitis pigmentosa 3, 300029;Macular degeneration, X-linked atrophic, 300834;Cone-rod dystrophy, X-linked, 1, 304020;Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455 30847515 False 3 0;100;0 1.214 False ENSG00000156313 ENSG00000156313 HGNC:10295 RPGRIP1 gene RPGRIP1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Leber congenital amaurosis 6, 613826;Cone-rod dystrophy 13, 608194 30847515 False 3 0;100;0 1.214 False ENSG00000092200 ENSG00000092200 HGNC:13436 RPGRIP1L gene RPGRIP1L Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 5, 611561;COACH syndrome, 216360;Joubert syndrome 7, 611560 30847515 False 3 0;100;0 1.214 False ENSG00000103494 ENSG00000103494 HGNC:29168 RPIA gene RPIA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ribose 5-phosphate isomerase deficiency, 608611 30847515 False 3 0;100;0 1.214 False ENSG00000153574 ENSG00000153574 HGNC:10297 RPL10 gene RPL10 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked, syndromic, 35, 300998 30847515 False 3 0;100;0 1.214 False ENSG00000147403 ENSG00000147403 HGNC:10298 RPL11 gene RPL11 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anemia 7, 612562 30847515 False 3 0;100;0 1.214 False ENSG00000142676 ENSG00000142676 HGNC:10301 RPL35A gene RPL35A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anemia 5, 612528 30847515 False 3 0;100;0 1.214 False ENSG00000182899 ENSG00000182899 HGNC:10345 RPL5 gene RPL5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anemia 6, 612561 30847515 False 3 0;100;0 1.214 False ENSG00000122406 ENSG00000122406 HGNC:10360 RPS10 gene RPS10 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anemia 9, 613308 30847515 False 3 0;100;0 1.214 False ENSG00000124614 ENSG00000124614 HGNC:10383 RPS17 gene RPS17 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anemia 4, 612527 30847515 False 3 0;100;0 1.214 False ENSG00000182774 ENSG00000182774 HGNC:10397 RPS19 gene RPS19 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anemia 1, 105650 30847515 False 3 0;100;0 1.214 False ENSG00000105372 ENSG00000105372 HGNC:10402 RPS24 gene RPS24 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-blackfan anemia 3, 610629 30847515 False 3 0;100;0 1.214 False ENSG00000138326 ENSG00000138326 HGNC:10411 RPS26 gene RPS26 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anemia 10, 613309 30847515 False 3 0;100;0 1.214 False ENSG00000197728 ENSG00000197728 HGNC:10414 RPS6KA3 gene RPS6KA3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Coffin-Lowry syndrome, 303600;Mental retardation, X-linked 19, 300844 30847515 False 3 0;100;0 1.214 False ENSG00000177189 ENSG00000177189 HGNC:10432 RPS7 gene RPS7 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anemia 8, 612563 30847515 False 3 0;100;0 1.214 False ENSG00000171863 ENSG00000171863 HGNC:10440 RPSA gene RPSA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Asplenia, isolated congenital, 271400 30847515 False 3 0;100;0 1.214 False ENSG00000168028 ENSG00000168028 HGNC:6502 RRM2B gene RRM2B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075;Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 30847515 False 3 0;100;0 1.214 False ENSG00000048392 ENSG00000048392 HGNC:17296 RS1 gene RS1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Retinoschisis, 312700 30847515 False 3 0;100;0 1.214 False ENSG00000102104 ENSG00000102104 HGNC:10457 RSPH1 gene RSPH1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 24, 615481 30847515 False 3 0;100;0 1.214 False ENSG00000160188 ENSG00000160188 HGNC:12371 RSPH3 gene RSPH3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 32, 616481 30847515 False 3 0;100;0 1.214 False ENSG00000130363 ENSG00000130363 HGNC:21054 RSPH4A gene RSPH4A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 11, 612649 30847515 False 3 0;100;0 1.214 False ENSG00000111834 ENSG00000111834 HGNC:21558 RSPH9 gene RSPH9 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 12, 612650 30847515 False 3 0;100;0 1.214 False ENSG00000172426 ENSG00000172426 HGNC:21057 RSPO4 gene RSPO4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Anonychia congenita, 206800 30847515 False 3 0;100;0 1.214 False ENSG00000101282 ENSG00000101282 HGNC:16175 RTEL1 gene RTEL1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal dominant 4, 615190;Dyskeratosis congenita, autosomal recessive 5, 615190;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, 616373 30847515 False 3 0;100;0 1.214 False ENSG00000258366 ENSG00000258366 HGNC:15888 RTN2 gene RTN2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 12, autosomal dominant, 604805 30847515 False 3 0;100;0 1.214 False ENSG00000125744 ENSG00000125744 HGNC:10468 RTN4IP1 gene RTN4IP1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732 30847515 False 3 0;100;0 1.214 False ENSG00000130347 ENSG00000130347 HGNC:18647 RTTN gene RTTN Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, short stature, and polymicrogyria with seizures, 614833 30847515 False 3 0;100;0 1.214 False ENSG00000176225 ENSG00000176225 HGNC:18654 RUNX1 gene RUNX1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Leukemia, acute myeloid, 601626;Platelet disorder, familial, with associated myeloid malignancy, 601399 30847515 False 3 0;100;0 1.214 False ENSG00000159216 ENSG00000159216 HGNC:10471 RUNX2 gene RUNX2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, 156510;Cleidocranial dysplasia, 119600;Cleidocranial dysplasia, forme fruste, dental anomalies only, 119600;Cleidocranial dysplasia, forme fruste, with brachydactyly, 119600 30847515 False 3 0;100;0 1.214 False ENSG00000124813 ENSG00000124813 HGNC:10472 RYR1 gene RYR1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Central core disease, 117000;King-Denborough syndrome, 145600;Minicore myopathy with external ophthalmoplegia, 255320;Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 30847515 False 3 0;100;0 1.214 False ENSG00000196218 ENSG00000196218 HGNC:10483 RYR2 gene RYR2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772;Arrhythmogenic right ventricular dysplasia 2, 600996 30847515 False 3 0;100;0 1.214 False ENSG00000198626 ENSG00000198626 HGNC:10484 SACS gene SACS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Spastic ataxia, Charlevoix-Saguenay type, 270550 30847515 False 3 0;100;0 1.214 False ENSG00000151835 ENSG00000151835 HGNC:10519 SALL1 gene SALL1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Townes-Brocks branchiootorenal-like syndrome, 107480;Townes-Brocks syndrome 1, 107480 30847515 False 3 0;100;0 1.214 False ENSG00000103449 ENSG00000103449 HGNC:10524 SALL4 gene SALL4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown IVIC syndrome, 147750;Duane-radial ray syndrome, 607323 30847515 False 3 0;100;0 1.214 False ENSG00000101115 ENSG00000101115 HGNC:15924 SAMD12 gene SAMD12 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy, familial adult myoclonic, 1, 601068 30847515 False 3 0;100;0 1.214 False ENSG00000177570 ENSG00000177570 HGNC:31750 SAMD9 gene SAMD9 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Tumoral calcinosis, familial, normophosphatemic, 610455;MIRAGE syndrome, 617053 30847515 False 3 0;100;0 1.214 False ENSG00000205413 ENSG00000205413 HGNC:1348 SAMD9L gene SAMD9L Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ataxia-pancytopenia syndrome, 159550 30847515 False 3 0;100;0 1.214 False ENSG00000177409 ENSG00000177409 HGNC:1349 SAMHD1 gene SAMHD1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 5, 612952;?Chilblain lupus 2, 614415 30847515 False 3 0;100;0 1.214 False ENSG00000101347 ENSG00000101347 HGNC:15925 SAR1B gene SAR1B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Chylomicron retention disease, 246700 30847515 False 3 0;100;0 1.214 False ENSG00000152700 ENSG00000152700 HGNC:10535 SARS2 gene SARS2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 30847515 False 3 0;100;0 1.214 False ENSG00000104835 ENSG00000104835 HGNC:17697 SATB2 gene SATB2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Glass syndrome, 612313 30847515 False 3 0;100;0 1.214 False ENSG00000119042 ENSG00000119042 HGNC:21637 SBDS gene SBDS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Shwachman-Diamond syndrome, 260400 30847515 False 3 0;100;0 1.214 False ENSG00000126524 ENSG00000126524 HGNC:19440 SBF1 gene SBF1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4B3, 615284 30847515 False 3 0;100;0 1.214 False ENSG00000100241 ENSG00000100241 HGNC:10542 SBF2 gene SBF2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4B2, 604563 30847515 False 3 0;100;0 1.214 False ENSG00000133812 ENSG00000133812 HGNC:2135 SC5D gene SC5D Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Lathosterolosis, 607330 30847515 False 3 0;100;0 1.214 False ENSG00000109929 ENSG00000109929 HGNC:10547 SCAPER gene SCAPER Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder and retinitis pigmentosa, 618195 30847515 False 3 0;100;0 1.214 False ENSG00000140386 ENSG00000140386 HGNC:13081 SCARB2 gene SCARB2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 30847515 False 3 0;100;0 1.214 False ENSG00000138760 ENSG00000138760 HGNC:1665 SCARF2 gene SCARF2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Van den Ende-Gupta syndrome, 600920 30847515 False 3 0;100;0 1.214 False ENSG00000244486 ENSG00000244486 HGNC:19869 SCLT1 gene SCLT1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Oro-facio-digital syndrome type IX 30847515 False 3 0;100;0 1.214 False ENSG00000151466 ENSG00000151466 HGNC:26406 SCN11A gene SCN11A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neuropathy, hereditary sensory and autonomic, type VII, 615548;Episodic pain syndrome, familial, 3, 615552 30847515 False 3 0;100;0 1.214 False ENSG00000168356 ENSG00000168356 HGNC:10583 SCN1A gene SCN1A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy, generalized, with febrile seizures plus, type 2, 604403;Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), 607208;Migraine, familial hemiplegic, 3, 609634;Febrile seizures, familial, 3A, 604403 30847515 False 3 0;100;0 1.214 False ENSG00000144285 ENSG00000144285 HGNC:10585 SCN1B gene SCN1B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epilepsy, generalized, with febrile seizures plus, type 1, 604233;Cardiac conduction defect, nonspecific, 612838;Epileptic encephalopathy, early infantile, 52, 617350;Atrial fibrillation, familial, 13, 615377;Brugada syndrome 5, 612838 30847515 False 3 0;100;0 1.214 False ENSG00000105711 ENSG00000105711 HGNC:10586 SCN2A gene SCN2A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 11, 613721;Seizures, benign familial infantile, 3, 607745 30847515 False 3 0;100;0 1.214 False ENSG00000136531 ENSG00000136531 HGNC:10588 SCN3A gene SCN3A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy, familial focal, with variable foci 4, 617935;Epileptic encephalopathy, early infantile, 62, 617938 30847515 False 3 0;100;0 1.214 False ENSG00000153253 ENSG00000153253 HGNC:10590 SCN4A gene SCN4A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperkalemic periodic paralysis, type 2, 170500;Myasthenic syndrome, congenital, 16, 614198;Myotonia congenita, atypical, acetazolamide-responsive, 608390;Hypokalemic periodic paralysis, type 2, 613345;Paramyotonia congenita, 168300 30847515 False 3 0;100;0 1.214 False ENSG00000007314 ENSG00000007314 HGNC:10591 SCN8A gene SCN8A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 13, 614558;?Myoclonus, familial, 2, 618364;Cognitive impairment with or without cerebellar ataxia, 614306;Seizures, benign familial infantile, 5, 617080 30847515 False 3 0;100;0 1.214 False ENSG00000196876 ENSG00000196876 HGNC:10596 SCN9A gene SCN9A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Insensitivity to pain, congenital, 243000;Febrile seizures, familial, 3B, 613863;Paroxysmal extreme pain disorder, 167400;Epilepsy, generalized, with febrile seizures plus, type 7, 613863;Small fiber neuropathy, 133020;HSAN2D, autosomal recessive, 243000;Erythermalgia, primary, 133020 30847515 False 3 0;100;0 1.214 False ENSG00000169432 ENSG00000169432 HGNC:10597 SCNN1A gene SCNN1A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bronchiectasis with or without elevated sweat chloride 2, 613021;?Liddle syndrome 3, 618126;Pseudohypoaldosteronism, type I, 264350 30847515 False 3 0;100;0 1.214 False ENSG00000111319 ENSG00000111319 HGNC:10599 SCNN1B gene SCNN1B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Liddle syndrome 1, 177200;Bronchiectasis with or without elevated sweat chloride 1, 211400;Pseudohypoaldosteronism, type I, 264350 30847515 False 3 0;100;0 1.214 False ENSG00000168447 ENSG00000168447 HGNC:10600 SCO1 gene SCO1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048 11013136;19295170;31352446;23878101 False 3 0;100;0 1.214 False ENSG00000133028 ENSG00000133028 HGNC:10603 SCO2 gene SCO2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myopia 6, 608908;Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 30847515 False 3 0;100;0 1.214 False ENSG00000130489 ENSG00000130489 HGNC:10604 SDCCAG8 gene SDCCAG8 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Senior-Loken syndrome 7, 613615;Bardet-Biedl syndrome 16, 615993 30847515 False 3 0;100;0 1.214 False ENSG00000054282 ENSG00000054282 HGNC:10671 SDHA gene SDHA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Paragangliomas 5, 614165;Leigh syndrome, 256000;Mitochondrial respiratory chain complex II deficiency, 252011;Cardiomyopathy, dilated, 1GG, 613642 30847515 False 3 0;100;0 1.214 False ENSG00000073578 ENSG00000073578 HGNC:10680 SDHAF1 gene SDHAF1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex II deficiency, 252011 30847515 False 3 0;100;0 1.214 False ENSG00000205138 ENSG00000205138 HGNC:33867 SDHB gene SDHB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Paraganglioma and gastric stromal sarcoma, 606864;Gastrointestinal stromal tumor, 606764;Paragangliomas 4, 115310;Pheochromocytoma, 171300 30847515 False 3 0;100;0 1.214 False ENSG00000117118 ENSG00000117118 HGNC:10681 SDHD gene SDHD Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial complex II deficiency, 252011;Paragangliomas 1, with or without deafness, 168000;Paraganglioma and gastric stromal sarcoma, 606864;Pheochromocytoma, 171300 30847515 False 3 0;100;0 1.214 False ENSG00000204370 ENSG00000204370 HGNC:10683 SEC23B gene SEC23B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Cowden syndrome 7, 616858;Dyserythropoietic anemia, congenital, type II, 224100 30847515 False 3 0;100;0 1.214 False ENSG00000101310 ENSG00000101310 HGNC:10702 SEC24D gene SEC24D Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Cole-Carpenter syndrome 2, 616294 30847515 False 3 0;100;0 1.214 False ENSG00000150961 ENSG00000150961 HGNC:10706 SELENON gene SELENON Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Congenital myopathy 3 with rigid spine, OMIM:602771 30642275;30847515;32796131 False 3 50;50;0 1.214 False ENSG00000162430 ENSG00000162430 HGNC:15999 SEPSECS gene SEPSECS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2D, 613811 30847515 False 3 0;100;0 1.214 False ENSG00000109618 ENSG00000109618 HGNC:30605 SEPT9 gene SEPT9 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Leukemia, acute myeloid, therapy-related;Amyotrophy, hereditary neuralgic, 162100;Ovarian carcinoma 30847515 False 3 0;100;0 1.214 False ENSG00000184640 ENSG00000184640 HGNC:7323 SERAC1 gene SERAC1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 30847515 False 3 0;100;0 1.214 False ENSG00000122335 ENSG00000122335 HGNC:21061 SERPINE1 gene SERPINE1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Plasminogen activator inhibitor-1 deficiency, 613329 30847515 False 3 0;100;0 1.214 False ENSG00000106366 ENSG00000106366 HGNC:8583 SERPINF1 gene SERPINF1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type VI, 613982 30847515 False 3 0;100;0 1.214 False ENSG00000132386 ENSG00000132386 HGNC:8824 SERPINF2 gene SERPINF2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Alpha-2-plasmin inhibitor deficiency, 262850 30847515 False 3 0;100;0 1.214 False ENSG00000167711 ENSG00000167711 HGNC:9075 SERPING1 gene SERPING1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Complement component 4, partial deficiency of, 120790;Angioedema, hereditary, types I and II, 106100 30847515 False 3 0;100;0 1.214 False ENSG00000149131 ENSG00000149131 HGNC:1228 SERPINH1 gene SERPINH1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type X, 613848 30847515 False 3 0;100;0 1.214 False ENSG00000149257 ENSG00000149257 HGNC:1546 SET gene SET Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 58, 618106 30847515 False 3 0;100;0 1.214 False ENSG00000119335 ENSG00000119335 HGNC:10760 SETBP1 gene SETBP1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 29, 616078;Schinzel-Giedion midface retraction syndrome, 269150 30847515 False 3 0;100;0 1.214 False ENSG00000152217 ENSG00000152217 HGNC:15573 SETD1B gene SETD1B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual developmental disorder with seizures and language delay, OMIM:619000;Intellectual developmental disorder with seizures and language delay, MONDO:0033559 30847515 False 3 0;100;0 1.214 False ENSG00000139718 ENSG00000139718 HGNC:29187 SETD2 gene SETD2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Luscan-Lumish syndrome, 616831 30847515 False 3 0;100;0 1.214 False ENSG00000181555 ENSG00000181555 HGNC:18420 SETD5 gene SETD5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 23, 615761 30847515 False 3 0;100;0 1.214 False ENSG00000168137 ENSG00000168137 HGNC:25566 SETX gene SETX Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, 606002;Amyotrophic lateral sclerosis 4, juvenile, 602433 30847515 False 3 0;100;0 1.214 False ENSG00000107290 ENSG00000107290 HGNC:445 SF3B4 gene SF3B4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Acrofacial dysostosis 1, Nager type, 154400 30847515 False 3 0;100;0 1.214 False ENSG00000143368 ENSG00000143368 HGNC:10771 SFRP4 gene SFRP4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Pyle disease, 265900 30847515 False 3 0;100;0 1.214 False ENSG00000106483 ENSG00000106483 HGNC:10778 SFTPB gene SFTPB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Surfactant metabolism dysfunction, pulmonary, 1, 265120 30847515 False 3 0;100;0 1.214 False ENSG00000168878 ENSG00000168878 HGNC:10801 SFXN4 gene SFXN4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 18, 615578 30847515 False 3 0;100;0 1.214 False ENSG00000183605 ENSG00000183605 HGNC:16088 SGCA gene SGCA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 3, 608099 30847515 False 3 0;100;0 1.214 False ENSG00000108823 ENSG00000108823 HGNC:10805 SGCB gene SGCB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 4, 604286 30847515 False 3 0;100;0 1.214 False ENSG00000163069 ENSG00000163069 HGNC:10806 SGCD gene SGCD Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, dilated, 1L, 606685;Muscular dystrophy, limb-girdle, autosomal recessive 6, 601287 30847515 False 3 0;100;0 1.214 False ENSG00000170624 ENSG00000170624 HGNC:10807 SGCE gene SGCE Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia-11, myoclonic, 159900 30847515 False 3 0;100;0 1.214 False ENSG00000127990 ENSG00000127990 HGNC:10808 SGCG gene SGCG Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 5, 253700 30847515 False 3 0;100;0 1.214 False ENSG00000102683 ENSG00000102683 HGNC:10809 SGPL1 gene SGPL1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 14, 617575 30847515 False 3 0;100;0 1.214 False ENSG00000166224 ENSG00000166224 HGNC:10817 SGSH gene SGSH Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900 30847515 False 3 0;100;0 1.214 False ENSG00000181523 ENSG00000181523 HGNC:10818 SH2D1A gene SH2D1A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Lymphoproliferative syndrome, X-linked, 1, 308240 30847515 False 3 0;100;0 1.214 False ENSG00000183918 ENSG00000183918 HGNC:10820 SH3BP2 gene SH3BP2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cherubism, OMIM:118400 30847515 False 3 0;100;0 1.214 False ENSG00000087266 ENSG00000087266 HGNC:10825 SH3PXD2B gene SH3PXD2B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Frank-ter Haar syndrome, 249420 30847515 False 3 0;100;0 1.214 False ENSG00000174705 ENSG00000174705 HGNC:29242 SH3TC2 gene SH3TC2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4C, 601596;Mononeuropathy of the median nerve, mild, 613353 30847515 False 3 0;100;0 1.214 False ENSG00000169247 ENSG00000169247 HGNC:29427 SHANK2 gene SHANK2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Autism susceptibility 17}, 613436 30847515 False 3 0;100;0 1.214 False ENSG00000162105 ENSG00000162105 HGNC:14295 SHANK3 gene SHANK3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phelan-McDermid syndrome, 606232 30847515 False 3 0;100;0 1.214 False ENSG00000251322 ENSG00000251322 HGNC:14294 SHH gene SHH Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Single median maxillary central incisor, 147250;Holoprosencephaly 3, 142945;Microphthalmia with coloboma 5, 611638;Schizencephaly, 269160 30847515 False 3 0;100;0 1.214 False ENSG00000164690 ENSG00000164690 HGNC:10848 SHOC2 gene SHOC2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome-like with loose anagen hair, 607721 30847515 False 3 0;100;0 1.214 False ENSG00000108061 ENSG00000108061 HGNC:15454 SHOX gene SHOX Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Leri-Weill dyschondrosteosis, 127300;Short stature, idiopathic familial, 300582;Langer mesomelic dysplasia, 249700 30847515 False 3 0;100;0 1.214 False ENSG00000185960 ENSG00000185960 HGNC:10853 SI gene SI Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Sucrase-isomaltase deficiency, congenital, 222900 30847515 False 3 0;100;0 1.214 False ENSG00000090402 ENSG00000090402 HGNC:10856 SIK1 gene SIK1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 30, 616341 30847515 False 3 0;100;0 1.214 False ENSG00000142178 ENSG00000142178 HGNC:11142 SIL1 gene SIL1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Marinesco-Sjogren syndrome, 248800 30847515 False 3 0;100;0 1.214 False ENSG00000120725 ENSG00000120725 HGNC:24624 SIN3A gene SIN3A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Witteveen-Kolk syndrome, 613406 30847515 False 3 0;100;0 1.214 False ENSG00000169375 ENSG00000169375 HGNC:19353 SIX1 gene SIX1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Branchiootic syndrome 3, 608389;Deafness, autosomal dominant 23, 605192 30847515 False 3 0;100;0 1.214 False ENSG00000126778 ENSG00000126778 HGNC:10887 SIX3 gene SIX3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Holoprosencephaly 2, 157170;Schizencephaly, 269160 30847515 False 3 0;100;0 1.214 False ENSG00000138083 ENSG00000138083 HGNC:10889 SIX5 gene SIX5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Branchiootorenal syndrome 2, 610896 30847515 False 3 0;100;0 1.214 False ENSG00000177045 ENSG00000177045 HGNC:10891 SKI gene SKI Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Shprintzen-Goldberg syndrome, 182212 30847515 False 3 0;100;0 1.214 False ENSG00000157933 ENSG00000157933 HGNC:10896 SKIV2L gene SKIV2L Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Trichohepatoenteric syndrome 2, 614602 30847515 False 3 0;100;0 1.214 False ENSG00000204351 ENSG00000204351 HGNC:10898 SLC10A7 gene SLC10A7 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, 618363 30847515 False 3 0;100;0 1.214 False ENSG00000120519 ENSG00000120519 HGNC:23088 SLC11A2 gene SLC11A2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Anemia, hypochromic microcytic, with iron overload 1, 206100 30847515 False 3 0;100;0 1.214 False ENSG00000110911 ENSG00000110911 HGNC:10908 SLC12A1 gene SLC12A1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 1, OMIM:601678;Bartter disease type 1, MONDO:0100344 30847515;8640224;9355073;28095294;32506365 False 3 0;100;0 1.214 False ENSG00000074803 ENSG00000074803 HGNC:10910 SLC12A3 gene SLC12A3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Gitelman syndrome, OMIM: 263800;Gitelman syndrome, MONDO:0009904 22009145;27604308;26770037;30999883;30847515 False 3 0;100;0 1.214 False ENSG00000070915 ENSG00000070915 HGNC:10912 SLC12A5 gene SLC12A5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 34, 616645 30847515 False 3 0;100;0 1.214 False ENSG00000124140 ENSG00000124140 HGNC:13818 SLC12A6 gene SLC12A6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Agenesis of the corpus callosum with peripheral neuropathy, 218000 12368912;31439721;27485015;16606917;17893295;21628467 False 3 0;100;0 1.214 False ENSG00000140199 ENSG00000140199 HGNC:10914 SLC13A5 gene SLC13A5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 25, 615905 30847515 False 3 0;100;0 1.214 False ENSG00000141485 ENSG00000141485 HGNC:23089 SLC16A1 gene SLC16A1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Erythrocyte lactate transporter defect, 245340;Hyperinsulinemic hypoglycemia, familial, 7, 610021;Monocarboxylate transporter 1 deficiency, 616095 30847515 False 3 0;100;0 1.214 False ENSG00000155380 ENSG00000155380 HGNC:10922 SLC16A2 gene SLC16A2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Allan-Herndon-Dudley syndrome, 300523 30847515 False 3 0;100;0 1.214 False ENSG00000147100 ENSG00000147100 HGNC:10923 SLC17A5 gene SLC17A5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Sialic acid storage disorder, infantile, 269920;Salla disease, 604369 30847515 False 3 0;100;0 1.214 False ENSG00000119899 ENSG00000119899 HGNC:10933 SLC18A3 gene SLC18A3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 21, presynaptic, 617239 30847515 False 3 0;100;0 1.214 False ENSG00000187714 ENSG00000187714 HGNC:10936 SLC19A2 gene SLC19A2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Thiamine-responsive megaloblastic anemia syndrome, 249270 30847515 False 3 0;100;0 1.214 False ENSG00000117479 ENSG00000117479 HGNC:10938 SLC19A3 gene SLC19A3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 30847515 False 3 0;100;0 1.214 False ENSG00000135917 ENSG00000135917 HGNC:16266 SLC1A2 gene SLC1A2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 41, 617105 30847515 False 3 0;100;0 1.214 False ENSG00000110436 ENSG00000110436 HGNC:10940 SLC1A3 gene SLC1A3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Episodic ataxia, type 6, 612656 30847515 False 3 0;100;0 1.214 False ENSG00000079215 ENSG00000079215 HGNC:10941 SLC1A4 gene SLC1A4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 30847515 False 3 0;100;0 1.214 False ENSG00000115902 ENSG00000115902 HGNC:10942 SLC20A2 gene SLC20A2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Basal ganglia calcification, idiopathic, 1, 213600 30847515 False 3 0;100;0 1.214 False ENSG00000168575 ENSG00000168575 HGNC:10947 SLC22A5 gene SLC22A5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Carnitine deficiency, systemic primary, OMIM:212140;systemic primary carnitine deficiency disease, MONDO:0008919 30847515;10545605;11261427 False 3 0;100;0 1.214 False ENSG00000197375 ENSG00000197375 HGNC:10969 SLC25A1 gene SLC25A1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Myasthenic syndrome, congenital, 23, presynaptic, 618197;Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 30847515 False 3 0;100;0 1.214 False ENSG00000100075 ENSG00000100075 HGNC:10979 SLC25A12 gene SLC25A12 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 39, 612949 30847515 False 3 0;100;0 1.214 False ENSG00000115840 ENSG00000115840 HGNC:10982 SLC25A13 gene SLC25A13 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Citrullinemia, adult-onset type II, 603471;Citrullinemia, type II, neonatal-onset, 605814 30847515 False 3 0;100;0 1.214 False ENSG00000004864 ENSG00000004864 HGNC:10983 SLC25A15 gene SLC25A15 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 30847515 False 3 0;100;0 1.214 False ENSG00000102743 ENSG00000102743 HGNC:10985 SLC25A19 gene SLC25A19 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, Amish type, 607196;Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 30847515 False 3 0;100;0 1.214 False ENSG00000125454 ENSG00000125454 HGNC:14409 SLC25A20 gene SLC25A20 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Carnitine-acylcarnitine translocase deficiency, 212138 30847515 False 3 0;100;0 1.214 False ENSG00000178537 ENSG00000178537 HGNC:1421 SLC25A22 gene SLC25A22 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 3, 609304 30847515 False 3 0;100;0 1.214 False ENSG00000177542 ENSG00000177542 HGNC:19954 SLC25A24 gene SLC25A24 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Fontaine progeroid syndrome, OMIM;612289;Fontaine progeroid syndrome, MONDO:0012853 30847515;29903433;29100093;29100094 False 3 0;100;0 1.214 False ENSG00000085491 ENSG00000085491 HGNC:20662 SLC25A26 gene SLC25A26 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 28, 616794 30847515 False 3 0;100;0 1.214 False ENSG00000144741 ENSG00000144741 HGNC:20661 SLC25A3 gene SLC25A3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial phosphate carrier deficiency, 610773 30847515 False 3 0;100;0 1.214 False ENSG00000075415 ENSG00000075415 HGNC:10989 SLC25A38 gene SLC25A38 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Anemia, sideroblastic, 2, pyridoxine-refractory, 205950 30847515 False 3 0;100;0 1.214 False ENSG00000144659 ENSG00000144659 HGNC:26054 SLC25A4 gene SLC25A4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283;Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184 30847515 False 3 0;100;0 1.214 False ENSG00000151729 ENSG00000151729 HGNC:10990 SLC25A42 gene SLC25A42 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, 618416 30847515 False 3 0;100;0 1.214 False ENSG00000181035 ENSG00000181035 HGNC:28380 SLC25A46 gene SLC25A46 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary motor and sensory, type VIB, 616505 30847515 False 3 0;100;0 1.214 False ENSG00000164209 ENSG00000164209 HGNC:25198 SLC26A2 gene SLC26A2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Diastrophic dysplasia, 222600;Epiphyseal dysplasia, multiple, 4, 226900;Achondrogenesis Ib, 600972;De la Chapelle dysplasia, 256050;Diastrophic dysplasia, broad bone-platyspondylic variant, 222600;Atelosteogenesis, type II, 256050 30847515 False 3 0;100;0 1.214 False ENSG00000155850 ENSG00000155850 HGNC:10994 SLC26A3 gene SLC26A3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Diarrhea 1, secretory chloride, congenital, 214700 30847515 False 3 0;100;0 1.214 False ENSG00000091138 ENSG00000091138 HGNC:3018 SLC26A4 gene SLC26A4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, 600791;Pendred syndrome, 274600 30847515 False 3 0;100;0 1.214 False ENSG00000091137 ENSG00000091137 HGNC:8818 SLC27A4 gene SLC27A4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ichthyosis prematurity syndrome, 608649 30847515 False 3 0;100;0 1.214 False ENSG00000167114 ENSG00000167114 HGNC:10998 SLC29A3 gene SLC29A3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Histiocytosis-lymphadenopathy plus syndrome, 602782 30847515 False 3 0;100;0 1.214 False ENSG00000198246 ENSG00000198246 HGNC:23096 SLC2A1 gene SLC2A1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Stomatin-deficient cryohydrocytosis with neurologic defects, 608885;{Epilepsy, idiopathic generalized, susceptibility to, 12}, 614847;Dystonia 9, 601042;GLUT1 deficiency syndrome 2, childhood onset, 612126;GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 30847515 False 3 0;100;0 1.214 False ENSG00000117394 ENSG00000117394 HGNC:11005 SLC2A10 gene SLC2A10 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Arterial tortuosity syndrome, 208050 30847515 False 3 0;100;0 1.214 False ENSG00000197496 ENSG00000197496 HGNC:13444 SLC2A2 gene SLC2A2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Fanconi-Bickel syndrome, 227810 30847515 False 3 0;100;0 1.214 False ENSG00000163581 ENSG00000163581 HGNC:11006 SLC30A10 gene SLC30A10 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hypermanganesemia with dystonia 1, 613280 30847515 False 3 0;100;0 1.214 False ENSG00000196660 ENSG00000196660 HGNC:25355 SLC33A1 gene SLC33A1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital cataracts, hearing loss, and neurodegeneration, 614482;Spastic paraplegia 42, autosomal dominant, 612539 30847515 False 3 0;100;0 1.214 False ENSG00000169359 ENSG00000169359 HGNC:95 SLC34A2 gene SLC34A2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Pulmonary alveolar microlithiasis, 265100 30847515 False 3 0;100;0 1.214 False ENSG00000157765 ENSG00000157765 HGNC:11020 SLC34A3 gene SLC34A3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hypophosphatemic rickets with hypercalciuria, 241530 30847515 False 3 0;100;0 1.214 False ENSG00000198569 ENSG00000198569 HGNC:20305 SLC35A1 gene SLC35A1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIf, 603585 30847515 False 3 0;100;0 1.214 False ENSG00000164414 ENSG00000164414 HGNC:11021 SLC35A2 gene SLC35A2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Congenital disorder of glycosylation, type IIm, 300896 30847515 False 3 0;100;0 1.214 False ENSG00000102100 ENSG00000102100 HGNC:11022 SLC35C1 gene SLC35C1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIc, 266265 30847515 False 3 0;100;0 1.214 False ENSG00000181830 ENSG00000181830 HGNC:20197 SLC35D1 gene SLC35D1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Schneckenbecken dysplasia, 269250 30847515 False 3 0;100;0 1.214 False ENSG00000116704 ENSG00000116704 HGNC:20800 SLC37A4 gene SLC37A4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease Ib, 232220;Glycogen storage disease Ic, 232240 30847515 False 3 0;100;0 1.214 False ENSG00000137700 ENSG00000137700 HGNC:4061 SLC39A13 gene SLC39A13 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, spondylodysplastic type, 3, 612350 30847515 False 3 0;100;0 1.214 False ENSG00000165915 ENSG00000165915 HGNC:20859 SLC39A14 gene SLC39A14 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypermanganesemia with dystonia 2, 617013;?Hyperostosis cranalis interna, 144755 30847515 False 3 0;100;0 1.214 False ENSG00000104635 ENSG00000104635 HGNC:20858 SLC39A4 gene SLC39A4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Acrodermatitis enteropathica, 201100 30847515 False 3 0;100;0 1.214 False ENSG00000147804 ENSG00000147804 HGNC:17129 SLC39A8 gene SLC39A8 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIn, 616721 30847515 False 3 0;100;0 1.214 False ENSG00000138821 ENSG00000138821 HGNC:20862 SLC3A1 gene SLC3A1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cystinuria, 220100 30847515 False 3 0;100;0 1.214 False ENSG00000138079 ENSG00000138079 HGNC:11025 SLC40A1 gene SLC40A1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hemochromatosis, type 4, 606069 30847515 False 3 0;100;0 1.214 False ENSG00000138449 ENSG00000138449 HGNC:10909 SLC45A2 gene SLC45A2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Albinism, oculocutaneous, type IV, 606574 30847515 False 3 0;100;0 1.214 False ENSG00000164175 ENSG00000164175 HGNC:16472 SLC46A1 gene SLC46A1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Folate malabsorption, hereditary, 229050 30847515 False 3 0;100;0 1.214 False ENSG00000076351 ENSG00000076351 HGNC:30521 SLC4A1 gene SLC4A1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Renal tubular acidosis, distal, AR, 611590;Cryohydrocytosis, 185020;Spherocytosis, type 4, 612653;Ovalocytosis, SA type, 166900;Renal tubular acidosis, distal, AD, 179800 30847515 False 3 0;100;0 1.214 False ENSG00000004939 ENSG00000004939 HGNC:11027 SLC4A11 gene SLC4A11 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Corneal dystrophy, Fuchs endothelial, 4, 613268;Corneal endothelial dystrophy, autosomal recessive, 217700;Corneal endothelial dystrophy and perceptive deafness, 217400 30847515 False 3 0;100;0 1.214 False ENSG00000088836 ENSG00000088836 HGNC:16438 SLC4A4 gene SLC4A4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Renal tubular acidosis, proximal, with ocular abnormalities, 604278 30847515 False 3 0;100;0 1.214 False ENSG00000080493 ENSG00000080493 HGNC:11030 SLC52A2 gene SLC52A2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Brown-Vialetto-Van Laere syndrome 2, 614707 30847515 False 3 0;100;0 1.214 False ENSG00000185803 ENSG00000185803 HGNC:30224 SLC52A3 gene SLC52A3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Fazio-Londe disease, 211500;Brown-Vialetto-Van Laere syndrome 1, 211530 30847515 False 3 0;100;0 1.214 False ENSG00000101276 ENSG00000101276 HGNC:16187 SLC5A1 gene SLC5A1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Glucose/galactose malabsorption, 606824 30847515 False 3 0;100;0 1.214 False ENSG00000100170 ENSG00000100170 HGNC:11036 SLC5A2 gene SLC5A2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Renal glucosuria, 233100 30847515 False 3 0;100;0 1.214 False ENSG00000140675 ENSG00000140675 HGNC:11037 SLC5A5 gene SLC5A5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Thyroid dyshormonogenesis 1, 274400 30847515 False 3 0;100;0 1.214 False ENSG00000105641 ENSG00000105641 HGNC:11040 SLC5A7 gene SLC5A7 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neuronopathy, distal hereditary motor, type VIIA, 158580;Myasthenic syndrome, congenital, 20, presynaptic, 617143 30847515 False 3 0;100;0 1.214 False ENSG00000115665 ENSG00000115665 HGNC:14025 SLC6A1 gene SLC6A1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myoclonic-atonic epilepsy, 616421 30847515 False 3 0;100;0 1.214 False ENSG00000157103 ENSG00000157103 HGNC:11042 SLC6A17 gene SLC6A17 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 48, 616269 30847515 False 3 0;100;0 1.214 False ENSG00000197106 ENSG00000197106 HGNC:31399 SLC6A19 gene SLC6A19 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Iminoglycinuria, digenic, 242600;Hyperglycinuria, 138500;Hartnup disorder, 234500 19033659;30847515;32644502 False 3 50;50;0 1.214 False ENSG00000174358 ENSG00000174358 HGNC:27960 SLC6A3 gene SLC6A3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Parkinsonism-dystonia, infantile, 1, 613135 30847515 False 3 0;100;0 1.214 False ENSG00000142319 ENSG00000142319 HGNC:11049 SLC6A5 gene SLC6A5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperekplexia 3, 614618 30847515 False 3 0;100;0 1.214 False ENSG00000165970 ENSG00000165970 HGNC:11051 SLC6A8 gene SLC6A8 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Cerebral creatine deficiency syndrome 1, 300352 30847515 False 3 0;100;0 1.214 False ENSG00000130821 ENSG00000130821 HGNC:11055 SLC6A9 gene SLC6A9 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Glycine encephalopathy with normal serum glycine, 617301 30847515 False 3 0;100;0 1.214 False ENSG00000196517 ENSG00000196517 HGNC:11056 SLC7A7 gene SLC7A7 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Lysinuric protein intolerance, 222700 30847515 False 3 0;100;0 1.214 False ENSG00000155465 ENSG00000155465 HGNC:11065 SLC7A9 gene SLC7A9 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cystinuria, 220100 30847515 False 3 0;100;0 1.214 False ENSG00000021488 ENSG00000021488 HGNC:11067 SLC9A6 gene SLC9A6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mental retardation, X-linked syndromic, Christianson type, 300243 30847515 False 3 0;100;0 1.214 False ENSG00000198689 ENSG00000198689 HGNC:11079 SLCO2A1 gene SLCO2A1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hypertrophic osteoarthropathy, primary, autosomal recessive 2 OMIM:614441;hypertrophic osteoarthropathy, primary, autosomal recessive, 2, MONDO:0013756;Hypertrophic osteoarthropathy, primary, autosomal dominant, OMIM:167100;hypertrophic osteoarthropathy, primary, autosomal dominant, MONDO:0008172 30847515;23509104;27134495;33852188;22331663;27134495 False 3 50;50;0 1.214 False ENSG00000174640 ENSG00000174640 HGNC:10955 SLFN14 gene SLFN14 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Bleeding disorder, platelet-type, 20, 616913 30847515 False 3 0;100;0 1.214 False ENSG00000236320 ENSG00000236320 HGNC:32689 SLX4 gene SLX4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group P, 613951 30847515 False 3 0;100;0 1.214 False ENSG00000188827 ENSG00000188827 HGNC:23845 SMAD3 gene SMAD3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Loeys-Dietz syndrome 3, 613795 30847515 False 3 0;100;0 1.214 False ENSG00000166949 ENSG00000166949 HGNC:6769 SMAD4 gene SMAD4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050;Polyposis, juvenile intestinal, 174900;Myhre syndrome, 139210 30847515 False 3 0;100;0 1.214 False ENSG00000141646 ENSG00000141646 HGNC:6770 SMARCA2 gene SMARCA2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Nicolaides-Baraitser syndrome, 601358 30847515 False 3 0;100;0 1.214 False ENSG00000080503 ENSG00000080503 HGNC:11098 SMARCA4 gene SMARCA4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Coffin-Siris syndrome 4, 614609 30847515 False 3 0;100;0 1.214 False ENSG00000127616 ENSG00000127616 HGNC:11100 SMARCAL1 gene SMARCAL1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Schimke immunoosseous dysplasia, 242900 30847515 False 3 0;100;0 1.214 False ENSG00000138375 ENSG00000138375 HGNC:11102 SMARCB1 gene SMARCB1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Coffin-Siris syndrome 3, 614608;Rhabdoid tumors, somatic, 609322 30847515 False 3 0;100;0 1.214 False ENSG00000099956 ENSG00000099956 HGNC:11103 SMARCC2 gene SMARCC2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Coffin-Siris syndrome 8, 618362 30847515 False 3 0;100;0 1.214 False ENSG00000139613 ENSG00000139613 HGNC:11105 SMARCD1 gene SMARCD1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Abnormality of the foot;Global developmental delay;Generalized hypotonia;Feeding difficulties;Intellectual disability;Abnormality of the hand;Coffin-Siris syndrome 11, 618779 30847515 False 3 0;100;0 1.214 False ENSG00000066117 ENSG00000066117 HGNC:11106 SMARCE1 gene SMARCE1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Coffin-Siris syndrome 5, 616938 30847515 False 3 0;100;0 1.214 False ENSG00000073584 ENSG00000073584 HGNC:11109 SMC1A gene SMC1A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Cornelia de Lange syndrome 2, OMIM:300590;Cornelia de Lange syndrome 2, MONDO:0010370;Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044;Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771 30847515 False 3 0;100;0 1.214 False ENSG00000072501 ENSG00000072501 HGNC:11111 SMC3 gene SMC3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cornelia de Lange syndrome 3, 610759 30847515 False 3 0;100;0 1.214 False ENSG00000108055 ENSG00000108055 HGNC:2468 SMCHD1 gene SMCHD1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bosma arhinia microphthalmia syndrome, 603457;Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 30847515 False 3 0;100;0 1.214 False ENSG00000101596 ENSG00000101596 HGNC:29090 SMN1 gene SMN1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy-3, 253400;Spinal muscular atrophy-4, 271150;Spinal muscular atrophy-2, 253550;Spinal muscular atrophy-1, 253300 30847515 False 3 0;100;0 1.214 False ENSG00000172062 ENSG00000172062 HGNC:11117 SMOC1 gene SMOC1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Microphthalmia with limb anomalies, 206920 30847515 False 3 0;100;0 1.214 False ENSG00000198732 ENSG00000198732 HGNC:20318 SMPD1 gene SMPD1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease, type B, 607616;Niemann-Pick disease, type A, 257200 30847515 False 3 0;100;0 1.214 False ENSG00000166311 ENSG00000166311 HGNC:11120 SMPX gene SMPX Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Deafness, X-linked 4, 300066 30847515 False 3 0;100;0 1.214 False ENSG00000091482 ENSG00000091482 HGNC:11122 SMS gene SMS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked, Snyder-Robinson type, 309583 30847515 False 3 0;100;0 1.214 False ENSG00000102172 ENSG00000102172 HGNC:11123 SNAP29 gene SNAP29 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 30847515 False 3 0;100;0 1.214 False ENSG00000099940 ENSG00000099940 HGNC:11133 SNCA gene SNCA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Parkinson disease 1, 168601;Dementia, Lewy body, 127750;Parkinson disease 4, 605543 30847515 False 3 0;100;0 1.214 False ENSG00000145335 ENSG00000145335 HGNC:11138 SNORD118 gene SNORD118 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, brain calcifications, and cysts, 614561 30847515 False 3 0;100;0 1.214 False ENSG00000200463 ENSG00000200463 HGNC:32952 SNRPB gene SNRPB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cerebrocostomandibular syndrome, 117650 30847515 False 3 0;100;0 1.214 False ENSG00000125835 ENSG00000125835 HGNC:11153 SNX10 gene SNX10 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 8, 615085 30847515 False 3 0;100;0 1.214 False ENSG00000086300 ENSG00000086300 HGNC:14974 SNX14 gene SNX14 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 20, 616354 30847515 False 3 0;100;0 1.214 False ENSG00000135317 ENSG00000135317 HGNC:14977 SON gene SON Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ZTTK syndrome, 617140 30847515 False 3 0;100;0 1.214 False ENSG00000159140 ENSG00000159140 HGNC:11183 SOS1 gene SOS1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 4, 610733 30847515 False 3 0;100;0 1.214 False ENSG00000115904 ENSG00000115904 HGNC:11187 SOS2 gene SOS2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 9, 616559 30847515 False 3 0;100;0 1.214 False ENSG00000100485 ENSG00000100485 HGNC:11188 SOST gene SOST Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Craniodiaphyseal dysplasia, autosomal dominant, 122860;Sclerosteosis 1, 269500;Van Buchem disease, 239100 30847515 False 3 0;100;0 1.214 False ENSG00000167941 ENSG00000167941 HGNC:13771 SOX10 gene SOX10 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PCWH syndrome, 609136;Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584;Waardenburg syndrome, type 4C, 613266 30847515 False 3 0;100;0 1.214 False ENSG00000100146 ENSG00000100146 HGNC:11190 SOX11 gene SOX11 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Coffin-Siris syndrome 9, 615866 30847515 False 3 0;100;0 1.214 False ENSG00000176887 ENSG00000176887 HGNC:11191 SOX17 gene SOX17 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Vesicoureteral reflux 3, 613674 30847515 False 3 0;100;0 1.214 False ENSG00000164736 ENSG00000164736 HGNC:18122 SOX2 gene SOX2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Microphthalmia, syndromic 3, 206900;Optic nerve hypoplasia and abnormalities of the central nervous system, 206900 30847515 False 3 0;100;0 1.214 False ENSG00000181449 ENSG00000181449 HGNC:11195 SOX3 gene SOX3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123;Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252;Panhypopituitarism, X-linked, OMIM:312000;Panhypopituitarism, X-linked, MONDO:0010712 30847515 False 3 0;100;0 1.214 False ENSG00000134595 ENSG00000134595 HGNC:11199 SOX4 gene SOX4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Coffin-Siris syndrome 10, 618506 30847515 False 3 0;100;0 1.214 False ENSG00000124766 ENSG00000124766 HGNC:11200 SOX5 gene SOX5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lamb-Shaffer syndrome, 616803 30847515 False 3 0;100;0 1.214 False ENSG00000134532 ENSG00000134532 HGNC:11201 SOX9 gene SOX9 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Acampomelic campomelic dysplasia, 114290;Campomelic dysplasia, 114290;Campomelic dysplasia with autosomal sex reversal, 114290 30847515 False 3 0;100;0 1.214 False ENSG00000125398 ENSG00000125398 HGNC:11204 SP110 gene SP110 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hepatic venoocclusive disease with immunodeficiency, 235550 30847515 False 3 0;100;0 1.214 False ENSG00000135899 ENSG00000135899 HGNC:5401 SPAG1 gene SPAG1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 28, 615505 30847515 False 3 0;100;0 1.214 False ENSG00000104450 ENSG00000104450 HGNC:11212 SPART gene SPART Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Troyer syndrome, 275900 30847515 False 3 0;100;0 1.214 False ENSG00000133104 ENSG00000133104 HGNC:18514 SPAST gene SPAST Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 4, autosomal dominant, OMIM:182601;hereditary spastic paraplegia 4, MONDO:0008438 30847515;39731306 False 3 0;100;0 1.214 False ENSG00000021574 ENSG00000021574 HGNC:11233 SPATA5 gene SPATA5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, hearing loss, and mental retardation syndrome, 616577 30847515 False 3 0;100;0 1.214 False ENSG00000145375 ENSG00000145375 HGNC:18119 SPECC1L gene SPECC1L Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Opitz GBBB syndrome, type II, 145410;?Facial clefting, oblique, 1, 600251;Hypertelorism, Teebi type, 145420 30847515 False 3 0;100;0 1.214 False ENSG00000100014 ENSG00000100014 HGNC:29022 SPEG gene SPEG Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Centronuclear myopathy 5, 615959 30847515 False 3 0;100;0 1.214 False ENSG00000072195 ENSG00000072195 HGNC:16901 SPG11 gene SPG11 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 11, autosomal recessive, 604360;Charcot-Marie-Tooth disease, axonal, type 2X, 616668;Amyotrophic lateral sclerosis 5, juvenile, 602099 30847515 False 3 0;100;0 1.214 False ENSG00000104133 ENSG00000104133 HGNC:11226 SPG21 gene SPG21 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mast syndrome, 248900 30847515 False 3 0;100;0 1.214 False ENSG00000090487 ENSG00000090487 HGNC:20373 SPG7 gene SPG7 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Spastic paraplegia 7, autosomal recessive, OMIM:607259;hereditary spastic paraplegia 7, MONDO:0011803 30847515;9635427;16534102;17646629;18200586;20186691;22571692 False 3 0;100;0 1.214 False ENSG00000197912 ENSG00000197912 HGNC:11237 SPINK5 gene SPINK5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Netherton syndrome, 256500 30847515 False 3 0;100;0 1.214 False ENSG00000133710 ENSG00000133710 HGNC:15464 SPPL2A gene SPPL2A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Defects with susceptibility to mycobacterial infection (MSMD);Susceptibility to mycobacteria;Defects in Intrinsic and Innate Immunity 30847515 False 3 0;100;0 1.214 False ENSG00000138600 ENSG00000138600 HGNC:30227 SPR gene SPR Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 30847515 False 3 0;100;0 1.214 False ENSG00000116096 ENSG00000116096 HGNC:11257 SPRED1 gene SPRED1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Legius syndrome, 611431 30847515 False 3 0;100;0 1.214 False ENSG00000166068 ENSG00000166068 HGNC:20249 SPTA1 gene SPTA1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Elliptocytosis-2, 130600;Spherocytosis, type 3, 270970;Pyropoikilocytosis, 266140 30847515 False 3 0;100;0 1.214 False ENSG00000163554 ENSG00000163554 HGNC:11272 SPTAN1 gene SPTAN1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental and epileptic encephalopathy 5, OMIM:613477;developmental and epileptic encephalopathy, 5, MONDO:0013277 30847515 False 3 0;100;0 1.214 False ENSG00000197694 ENSG00000197694 HGNC:11273 SPTB gene SPTB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spherocytosis, type 2, 616649;Anemia, neonatal hemolytic, fatal or near-fatal, 617948;Elliptocytosis-3, 617948 30847515 False 3 0;100;0 1.214 False ENSG00000070182 ENSG00000070182 HGNC:11274 SPTBN2 gene SPTBN2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spinocerebellar ataxia 5, 600224;Spinocerebellar ataxia, autosomal recessive 14, 615386 30847515 False 3 0;100;0 1.214 False ENSG00000173898 ENSG00000173898 HGNC:11276 SPTBN4 gene SPTBN4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 30847515 False 3 0;100;0 1.214 False ENSG00000160460 ENSG00000160460 HGNC:14896 SPTLC1 gene SPTLC1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neuropathy, hereditary sensory and autonomic, type IA, 162400 30847515 False 3 0;100;0 1.214 False ENSG00000090054 ENSG00000090054 HGNC:11277 SPTLC2 gene SPTLC2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neuropathy, hereditary sensory and autonomic, type IC, 613640 30847515 False 3 0;100;0 1.214 False ENSG00000100596 ENSG00000100596 HGNC:11278 SRC gene SRC Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Colon cancer, advanced, somatic, 114500;?Thrombocytopenia 6, 616937 30847515 False 3 0;100;0 1.214 False ENSG00000197122 ENSG00000197122 HGNC:11283 SRCAP gene SRCAP Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Floating-Harbor syndrome, 136140 30847515 False 3 0;100;0 1.214 False ENSG00000080603 ENSG00000080603 HGNC:16974 SRD5A2 gene SRD5A2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Pseudovaginal perineoscrotal hypospadias, 264600 30847515 False 3 0;100;0 1.214 False ENSG00000049319 ENSG00000277893 HGNC:11285 SRD5A3 gene SRD5A3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Kahrizi syndrome, 612713;Congenital disorder of glycosylation, type Iq, 612379 30847515 False 3 0;100;0 1.214 False ENSG00000128039 ENSG00000128039 HGNC:25812 SRY gene SRY Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 46XX sex reversal 1, 400045;46XY sex reversal 1, 400044 30847515 False 3 0;100;0 1.214 False ENSG00000184895 ENSG00000184895 HGNC:11311 SSR4 gene SSR4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Congenital disorder of glycosylation, type Iy, 300934 30847515 False 3 0;100;0 1.214 False ENSG00000180879 ENSG00000180879 HGNC:11326 ST3GAL3 gene ST3GAL3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 12, 611090;?Epileptic encephalopathy, early infantile, 15, 615006 30847515 False 3 0;100;0 1.214 False ENSG00000126091 ENSG00000126091 HGNC:10866 ST3GAL5 gene ST3GAL5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Salt and pepper developmental regression syndrome, 609056 30847515 False 3 0;100;0 1.214 False ENSG00000115525 ENSG00000115525 HGNC:10872 STAC3 gene STAC3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, congenital, Baily-Bloch, 255995 30847515 False 3 0;100;0 1.214 False ENSG00000185482 ENSG00000185482 HGNC:28423 STAG1 gene STAG1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 47, 617635 30847515 False 3 0;100;0 1.214 False ENSG00000118007 ENSG00000118007 HGNC:11354 STAG2 gene STAG2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mullegama-Klein-Martinez syndrome, 301022 30847515 False 3 0;100;0 1.214 False ENSG00000101972 ENSG00000101972 HGNC:11355 STAMBP gene STAMBP Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly-capillary malformation syndrome, 614261 30847515 False 3 0;100;0 1.214 False ENSG00000124356 ENSG00000124356 HGNC:16950 STAR gene STAR Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Lipoid adrenal hyperplasia, 201710 30847515 False 3 0;100;0 1.214 False ENSG00000147465 ENSG00000147465 HGNC:11359 STAT1 gene STAT1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796;Immunodeficiency 31A, mycobacteriosis, autosomal dominant, 614892;Immunodeficiency 31C, autosomal dominant, 614162 30847515 False 3 0;100;0 1.214 False ENSG00000115415 ENSG00000115415 HGNC:11362 STAT2 gene STAT2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 44, 616636 30847515 False 3 0;100;0 1.214 False ENSG00000170581 ENSG00000170581 HGNC:11363 STAT3 gene STAT3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hyper-IgE recurrent infection syndrome, 147060;Autoimmune disease, multisystem, infantile-onset, 1, 615952 30847515 False 3 0;100;0 1.214 False ENSG00000168610 ENSG00000168610 HGNC:11364 STAT5B gene STAT5B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Growth hormone insensitivity with immunodeficiency, 245590 30847515 False 3 0;100;0 1.214 False ENSG00000173757 ENSG00000173757 HGNC:11367 STIL gene STIL Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly 7, primary, autosomal recessive, 612703 30847515 False 3 0;100;0 1.214 False ENSG00000123473 ENSG00000123473 HGNC:10879 STIM1 gene STIM1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Immunodeficiency 10, 612783;Stormorken syndrome, 185070;Myopathy, tubular aggregate, 1, 160565 30847515 False 3 0;100;0 1.214 False ENSG00000167323 ENSG00000167323 HGNC:11386 STK11 gene STK11 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Peutz-Jeghers syndrome, 175200 30847515 False 3 0;100;0 1.214 False ENSG00000118046 ENSG00000118046 HGNC:11389 STK4 gene STK4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, 614868 30847515 False 3 0;100;0 1.214 False ENSG00000101109 ENSG00000101109 HGNC:11408 STRA6 gene STRA6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Microphthalmia, isolated, with coloboma 8, 601186;Microphthalmia, syndromic 9, 601186 30847515 False 3 0;100;0 1.214 False ENSG00000137868 ENSG00000137868 HGNC:30650 STRADA gene STRADA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 30847515 False 3 0;100;0 1.214 False ENSG00000266173 ENSG00000266173 HGNC:30172 STRC gene STRC Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 16, 603720 30847515 False 3 0;100;0 1.214 False ENSG00000242866 ENSG00000242866 HGNC:16035 STS gene STS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Ichthyosis, X-linked, 308100 30847515 False 3 0;100;0 1.214 False ENSG00000101846 ENSG00000101846 HGNC:11425 STUB1 gene STUB1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Autosomal recessive spinocerebellar ataxia type 16, OMIM:615768;autosomal recessive spinocerebellar ataxia 16, MONDO:0014339;Spinocerebellar ataxia 48, OMIM:618093;spinocerebellar ataxia 48, MONDO:0032526 30847515;25592071;30381368;32713943;33564152;35493319;34906452 False 3 0;100;0 1.214 False ENSG00000103266 ENSG00000103266 HGNC:11427 STX11 gene STX11 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hemophagocytic lymphohistiocytosis, familial, 4, 603552 30847515 False 3 0;100;0 1.214 False ENSG00000135604 ENSG00000135604 HGNC:11429 STX1B gene STX1B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Generalized epilepsy with febrile seizures plus, type 9, 616172 30847515 False 3 0;100;0 1.214 False ENSG00000099365 ENSG00000099365 HGNC:18539 STXBP1 gene STXBP1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 4, OMIM:612164;developmental and epileptic encephalopathy, 4, MONDO:0012812 30847515;35190816;31855252;18469812;19557857 False 3 50;50;0 1.214 False ENSG00000136854 ENSG00000136854 HGNC:11444 STXBP2 gene STXBP2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hemophagocytic lymphohistiocytosis, familial, 5, 613101 30847515 False 3 0;100;0 1.214 False ENSG00000076944 ENSG00000076944 HGNC:11445 SUCLA2 gene SUCLA2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 30847515 False 3 0;100;0 1.214 False ENSG00000136143 ENSG00000136143 HGNC:11448 SUCLG1 gene SUCLG1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 30847515 False 3 0;100;0 1.214 False ENSG00000163541 ENSG00000163541 HGNC:11449 SUMF1 gene SUMF1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Multiple sulfatase deficiency, 272200 30847515 False 3 0;100;0 1.214 False ENSG00000144455 ENSG00000144455 HGNC:20376 SUOX gene SUOX Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Sulfite oxidase deficiency, 272300 30847515 False 3 0;100;0 1.214 False ENSG00000139531 ENSG00000139531 HGNC:11460 SURF1 gene SURF1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4K, 616684;Leigh syndrome, due to COX IV deficiency, 256000 30847515 False 3 0;100;0 1.214 False ENSG00000148290 ENSG00000148290 HGNC:11474 SUZ12 gene SUZ12 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Weaver-like overgrowth syndrome;Imagawa-Matsumoto syndrome, 618786 30847515 False 3 0;100;0 1.214 False ENSG00000178691 ENSG00000178691 HGNC:17101 SYN1 gene SYN1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 30847515 False 3 0;100;0 1.214 False ENSG00000008056 ENSG00000008056 HGNC:11494 SYNE1 gene SYNE1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 8, 610743;Arthrogryposis multiplex congenita, myogenic type, 618484;Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 30847515 False 3 0;100;0 1.214 False ENSG00000131018 ENSG00000131018 HGNC:17089 SYNGAP1 gene SYNGAP1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 5, 612621 30847515 False 3 0;100;0 1.214 False ENSG00000197283 ENSG00000197283 HGNC:11497 SYNJ1 gene SYNJ1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Parkinson disease 20, early-onset, 615530;Epileptic encephalopathy, early infantile, 53, 617389 30847515 False 3 0;100;0 1.214 False ENSG00000159082 ENSG00000159082 HGNC:11503 SYP gene SYP Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked 96, 300802 30847515 False 3 0;100;0 1.214 False ENSG00000102003 ENSG00000102003 HGNC:11506 SYT1 gene SYT1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Baker-Gordon syndrome, 618218 30847515 False 3 0;100;0 1.214 False ENSG00000067715 ENSG00000067715 HGNC:11509 SZT2 gene SZT2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 18, 615476 30847515 False 3 0;100;0 1.214 False ENSG00000198198 ENSG00000198198 HGNC:29040 TAB2 gene TAB2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital heart defects, nonsyndromic, 2, 614980 30847515 False 3 0;100;0 1.214 False ENSG00000055208 ENSG00000055208 HGNC:17075 TACO1 gene TACO1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, 220110 30847515 False 3 0;100;0 1.214 False ENSG00000136463 ENSG00000136463 HGNC:24316 TAF1 gene TAF1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked, syndromic 33, 300966;Dystonia-Parkinsonism, X-linked, 314250 30847515 False 3 0;100;0 1.214 False ENSG00000147133 ENSG00000147133 HGNC:11535 TAF6 gene TAF6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Alazami-Yuan syndrome, 617126 30847515 False 3 0;100;0 1.214 False ENSG00000106290 ENSG00000106290 HGNC:11540 TALDO1 gene TALDO1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Transaldolase deficiency, 606003 30847515 False 3 0;100;0 1.214 False ENSG00000177156 ENSG00000177156 HGNC:11559 TANGO2 gene TANGO2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878 30847515 False 3 0;100;0 1.214 False ENSG00000183597 ENSG00000183597 HGNC:25439 TAP1 gene TAP1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Bare lymphocyte syndrome, type I, 604571 30847515 False 3 0;100;0 1.214 False ENSG00000168394 ENSG00000168394 HGNC:43 TAP2 gene TAP2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Bare lymphocyte syndrome, type I, due to TAP2 deficiency, 604571 30847515 False 3 0;100;0 1.214 False ENSG00000204267 ENSG00000204267 HGNC:44 TAPBP gene TAPBP Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Bare lymphocyte syndrome, type I, 604571 30847515 False 3 0;100;0 1.214 False ENSG00000231925 ENSG00000231925 HGNC:11566 TAPT1 gene TAPT1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type, 616897 30847515 False 3 0;100;0 1.214 False ENSG00000169762 ENSG00000169762 HGNC:26887 TARDBP gene TARDBP Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyotrophic lateral sclerosis 10, with or without FTD, 612069;Frontotemporal lobar degeneration, TARDBP-related, 612069 30847515 False 3 0;100;0 1.214 False ENSG00000120948 ENSG00000120948 HGNC:11571 TAT gene TAT Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Tyrosinemia, type II, 276600 30847515 False 3 0;100;0 1.214 False ENSG00000198650 ENSG00000198650 HGNC:11573 TAZ gene TAZ Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Barth syndrome, 302060 30847515 False 3 0;100;0 1.214 False ENSG00000102125 ENSG00000102125 HGNC:11577 TBC1D20 gene TBC1D20 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 4, 615663 30847515 False 3 0;100;0 1.214 False ENSG00000125875 ENSG00000125875 HGNC:16133 TBC1D23 gene TBC1D23 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 11, 617695 30847515 False 3 0;100;0 1.214 False ENSG00000036054 ENSG00000036054 HGNC:25622 TBC1D24 gene TBC1D24 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal DOORS syndrome, 220500;Deafness , autosomal recessive 86, 614617;Deafness, autosomal dominant 65, 616044;Epileptic encephalopathy, early infantile, 16, 615338;Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp, 608105;Myoclonic epilepsy, infantile, familial, 605021 30847515 False 3 0;100;0 1.214 False ENSG00000162065 ENSG00000162065 HGNC:29203 TBCD gene TBCD Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, OMIM:617193;Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, MONDO:0044646 30847515 False 3 0;100;0 1.214 False ENSG00000141556 ENSG00000141556 HGNC:11581 TBCE gene TBCE Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Kenny-Caffey syndrome, type 1, 244460;Hypoparathyroidism-retardation-dysmorphism syndrome, 241410;Encephalopathy, progressive, with amyotrophy and optic atrophy, 617207 30847515 False 3 0;100;0 1.214 False ENSG00000116957 ENSG00000116957 HGNC:11582 TBCK gene TBCK Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900 30847515 False 3 0;100;0 1.214 False ENSG00000145348 ENSG00000145348 HGNC:28261 TBK1 gene TBK1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, 616439 30847515 False 3 0;100;0 1.214 False ENSG00000183735 ENSG00000183735 HGNC:11584 TBL1XR1 gene TBL1XR1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 41, 616944;Pierpont syndrome, 602342 30847515 False 3 0;100;0 1.214 False ENSG00000177565 ENSG00000177565 HGNC:29529 TBP gene TBP Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 17, 607136 30847515 False 3 0;100;0 1.214 False ENSG00000112592 ENSG00000112592 HGNC:11588 TBR1 gene TBR1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual developmental disorder with autism and speech delay, 606053 30847515 False 3 0;100;0 1.214 False ENSG00000136535 ENSG00000136535 HGNC:11590 TBX1 gene TBX1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal DiGeorge syndrome, 188400;Tetralogy of Fallot, 187500;Conotruncal anomaly face syndrome, 217095;Velocardiofacial syndrome, 192430 30847515 False 3 0;100;0 1.214 False ENSG00000184058 ENSG00000184058 HGNC:11592 TBX15 gene TBX15 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Cousin syndrome, 260660 30847515 False 3 0;100;0 1.214 False ENSG00000092607 ENSG00000092607 HGNC:11594 TBX18 gene TBX18 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital anomalies of kidney and urinary tract 2, 143400 30847515 False 3 0;100;0 1.214 False ENSG00000112837 ENSG00000112837 HGNC:11595 TBX20 gene TBX20 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Atrial septal defect 4, 611363 30847515 False 3 0;100;0 1.214 False ENSG00000164532 ENSG00000164532 HGNC:11598 TBX22 gene TBX22 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) ?Abruzzo-Erickson syndrome, 302905;Cleft palate with ankyloglossia, 303400 30847515 False 3 0;100;0 1.214 False ENSG00000122145 ENSG00000122145 HGNC:11600 TBX3 gene TBX3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ulnar-mammary syndrome, 181450 30847515 False 3 0;100;0 1.214 False ENSG00000135111 ENSG00000135111 HGNC:11602 TBX4 gene TBX4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, 147891 30847515 False 3 0;100;0 1.214 False ENSG00000121075 ENSG00000121075 HGNC:11603 TBX5 gene TBX5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holt-Oram syndrome, 142900 30847515 False 3 0;100;0 1.214 False ENSG00000089225 ENSG00000089225 HGNC:11604 TBX6 gene TBX6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spondylocostal dysostosis 5, 122600 30847515 False 3 0;100;0 1.214 False ENSG00000149922 ENSG00000149922 HGNC:11605 TBXA2R gene TBXA2R Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Bleeding disorder, platelet-type, 13, susceptibility to}, 614009 30847515 False 3 0;100;0 1.214 False ENSG00000006638 ENSG00000006638 HGNC:11608 TBXAS1 gene TBXAS1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ghosal hematodiaphyseal syndrome, 231095 30847515 False 3 0;100;0 1.214 False ENSG00000059377 ENSG00000059377 HGNC:11609 TCAP gene TCAP Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, hypertrophic, 25, 607487;Muscular dystrophy, limb-girdle, autosomal recessive 7, 601954 30847515 False 3 0;100;0 1.214 False ENSG00000173991 ENSG00000173991 HGNC:11610 TCF12 gene TCF12 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Craniosynostosis 3, 615314 30847515 False 3 0;100;0 1.214 False ENSG00000140262 ENSG00000140262 HGNC:11623 TCF20 gene TCF20 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental delay with variable intellectual impairment and behavioral abnormalities, 618430 30847515 False 3 0;100;0 1.214 False ENSG00000100207 ENSG00000100207 HGNC:11631 TCF3 gene TCF3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Agammaglobulinemia 8, autosomal dominant, 616941 30847515 False 3 0;100;0 1.214 False ENSG00000071564 ENSG00000071564 HGNC:11633 TCF4 gene TCF4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pitt-Hopkins syndrome, 610954;Corneal dystrophy, Fuchs endothelial, 3, 613267 30847515 False 3 0;100;0 1.214 False ENSG00000196628 ENSG00000196628 HGNC:11634 TCIRG1 gene TCIRG1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 1, 259700 30847515 False 3 0;100;0 1.214 False ENSG00000110719 ENSG00000110719 HGNC:11647 TCN2 gene TCN2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Transcobalamin II deficiency, 275350 30847515 False 3 0;100;0 1.214 False ENSG00000185339 ENSG00000185339 HGNC:11653 TCOF1 gene TCOF1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Treacher Collins syndrome 1, 154500 30847515 False 3 0;100;0 1.214 False ENSG00000070814 ENSG00000070814 HGNC:11654 TCTEX1D2 gene TCTEX1D2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405;Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565 30847515 False 3 0;100;0 1.214 False ENSG00000213123 ENSG00000213123 HGNC:28482 TCTN1 gene TCTN1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 13, 614173 30847515 False 3 0;100;0 1.214 False ENSG00000204852 ENSG00000204852 HGNC:26113 TCTN2 gene TCTN2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 24, 616654;?Meckel syndrome 8, 613885 30847515 False 3 0;100;0 1.214 False ENSG00000168778 ENSG00000168778 HGNC:25774 TCTN3 gene TCTN3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 18, 614815;Orofaciodigital syndrome IV, 258860 30847515 False 3 0;100;0 1.214 False ENSG00000119977 ENSG00000119977 HGNC:24519 TECPR2 gene TECPR2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 49, autosomal recessive, 615031 30847515 False 3 0;100;0 1.214 False ENSG00000196663 ENSG00000196663 HGNC:19957 TECTA gene TECTA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Deafness, autosomal recessive 21, 603629;Deafness, autosomal dominant 8/12, 601543 30847515 False 3 0;100;0 1.214 False ENSG00000109927 ENSG00000109927 HGNC:11720 TEK gene TEK Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Glaucoma 3, primary congenital, E, 617272;Venous malformations, multiple cutaneous and mucosal, 600195 30847515 False 3 0;100;0 1.214 False ENSG00000120156 ENSG00000120156 HGNC:11724 TELO2 gene TELO2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal You-Hoover-Fong syndrome, 616954 30847515 False 3 0;100;0 1.214 False ENSG00000100726 ENSG00000100726 HGNC:29099 TENM3 gene TENM3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Microphthalmia, syndromic 15, OMIM:615145;?Microphthalmia, isolated, with coloboma 9, OMIM:615145;Microphthalmia, isolated, with coloboma 9, MONDO:0014059 30847515 False 3 0;100;0 1.214 False ENSG00000218336 ENSG00000218336 HGNC:29944 TERC gene TERC Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dyskeratosis congenita, autosomal dominant 1, 127550 30847515 False 3 0;100;0 1.214 False ENSG00000270141 ENSG00000270141 HGNC:11727 TERT gene TERT Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Dyskeratosis congenita, autosomal dominant 2}, 613989;{Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742;{Dyskeratosis congenita, autosomal recessive 4}, 613989 30847515 False 3 0;100;0 1.214 False ENSG00000164362 ENSG00000164362 HGNC:11730 TF gene TF Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Atransferrinemia, 209300 30847515 False 3 0;100;0 1.214 False ENSG00000091513 ENSG00000091513 HGNC:11740 TFAP2A gene TFAP2A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Branchiooculofacial syndrome, 113620 30847515 False 3 0;100;0 1.214 False ENSG00000137203 ENSG00000137203 HGNC:11742 TFAP2B gene TFAP2B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Patent ductus arteriosus 2, 617035;Char syndrome, 169100 30847515 False 3 0;100;0 1.214 False ENSG00000008196 ENSG00000008196 HGNC:11743 TFG gene TFG Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hereditary motor and sensory neuropathy, Okinawa type, 604484;?Spastic paraplegia 57, autosomal recessive, 615658 30847515 False 3 0;100;0 1.214 False ENSG00000114354 ENSG00000114354 HGNC:11758 TFR2 gene TFR2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, type 3, 604250 30847515 False 3 0;100;0 1.214 False ENSG00000106327 ENSG00000106327 HGNC:11762 TG gene TG Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Thyroid dyshormonogenesis 3, 274700 30847515 False 3 0;100;0 1.214 False ENSG00000042832 ENSG00000042832 HGNC:11764 TGDS gene TGDS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Catel-Manzke syndrome, 616145 30847515 False 3 0;100;0 1.214 False ENSG00000088451 ENSG00000088451 HGNC:20324 TGFB1 gene TGFB1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Camurati-Engelmann disease, 131300;Inflammatory bowel disease, immunodeficiency, and encephalopathy, 618213 30847515 False 3 0;100;0 1.214 False ENSG00000105329 ENSG00000105329 HGNC:11766 TGFB2 gene TGFB2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Loeys-Dietz syndrome 4, 614816 30847515 False 3 0;100;0 1.214 False ENSG00000092969 ENSG00000092969 HGNC:11768 TGFB3 gene TGFB3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Loeys-Dietz syndrome 5, 615582;Arrhythmogenic right ventricular dysplasia 1, 107970 30847515 False 3 0;100;0 1.214 False ENSG00000119699 ENSG00000119699 HGNC:11769 TGFBR1 gene TGFBR1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Loeys-Dietz syndrome 1, 609192 30847515 False 3 0;100;0 1.214 False ENSG00000106799 ENSG00000106799 HGNC:11772 TGFBR2 gene TGFBR2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Loeys-Dietz syndrome 2, 610168 30847515 False 3 0;100;0 1.214 False ENSG00000163513 ENSG00000163513 HGNC:11773 TGIF1 gene TGIF1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holoprosencephaly 4, 142946 30847515 False 3 0;100;0 1.214 False ENSG00000177426 ENSG00000177426 HGNC:11776 TGM1 gene TGM1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 1, 242300 30847515 False 3 0;100;0 1.214 False ENSG00000092295 ENSG00000092295 HGNC:11777 TGM5 gene TGM5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Peeling skin syndrome 2, 609796 30847515 False 3 0;100;0 1.214 False ENSG00000104055 ENSG00000104055 HGNC:11781 TGM6 gene TGM6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 35, 613908 30847515 False 3 0;100;0 1.214 False ENSG00000166948 ENSG00000166948 HGNC:16255 TH gene TH Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Segawa syndrome, recessive, 605407 30847515 False 3 0;100;0 1.214 False ENSG00000180176 ENSG00000180176 HGNC:11782 THAP1 gene THAP1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia 6, torsion, 602629 30847515 False 3 0;100;0 1.214 False ENSG00000131931 ENSG00000131931 HGNC:20856 THBD gene THBD Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Thrombophilia due to thrombomodulin defect, 614486 30847515 False 3 0;100;0 1.214 False ENSG00000178726 ENSG00000178726 HGNC:11784 THOC2 gene THOC2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked 12/35, 300957 30847515 False 3 0;100;0 1.214 False ENSG00000125676 ENSG00000125676 HGNC:19073 THOC6 gene THOC6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Beaulieu-Boycott-Innes syndrome, 613680 30847515 False 3 0;100;0 1.214 False ENSG00000131652 ENSG00000131652 HGNC:28369 THPO gene THPO Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Thrombocythemia 1, 187950 30847515 False 3 0;100;0 1.214 False ENSG00000090534 ENSG00000090534 HGNC:11795 THRA gene THRA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypothyroidism, congenital, nongoitrous, 6, 614450 30847515 False 3 0;100;0 1.214 False ENSG00000126351 ENSG00000126351 HGNC:11796 THRB gene THRB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Thyroid hormone resistance, selective pituitary, 145650;Thyroid hormone resistance, 188570;Thyroid hormone resistance, autosomal recessive, 274300 30847515 False 3 0;100;0 1.214 False ENSG00000151090 ENSG00000151090 HGNC:11799 TIA1 gene TIA1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Welander distal myopathy, 604454 30847515 False 3 0;100;0 1.214 False ENSG00000116001 ENSG00000116001 HGNC:11802 TICAM1 gene TICAM1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, 614850 30847515 False 3 0;100;0 1.214 False ENSG00000127666 ENSG00000127666 HGNC:18348 TIMM50 gene TIMM50 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type IX, 617698 30847515 False 3 0;100;0 1.214 False ENSG00000105197 ENSG00000105197 HGNC:23656 TIMM8A gene TIMM8A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mohr-Tranebjaerg syndrome, 304700 30847515 False 3 0;100;0 1.214 False ENSG00000126953 ENSG00000126953 HGNC:11817 TINF2 gene TINF2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Revesz syndrome, 268130;Dyskeratosis congenita, autosomal dominant 3, 613990 30847515 False 3 0;100;0 1.214 False ENSG00000092330 ENSG00000092330 HGNC:11824 TJP2 gene TJP2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hypercholanemia, familial, 607748;Cholestasis, progressive familial intrahepatic 4, 615878 30847515 False 3 0;100;0 1.214 False ENSG00000119139 ENSG00000119139 HGNC:11828 TK2 gene TK2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560;?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069 30847515 False 3 0;100;0 1.214 False ENSG00000166548 ENSG00000166548 HGNC:11831 TLK2 gene TLK2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 57, OMIM:618050;Mental retardation, autosomal dominant 57, MONDO:0054837 30847515 False 3 0;100;0 1.214 False ENSG00000146872 ENSG00000146872 HGNC:11842 TLR3 gene TLR3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2}, 613002 30847515 False 3 0;100;0 1.214 False ENSG00000164342 ENSG00000164342 HGNC:11849 TMC1 gene TMC1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Deafness, autosomal dominant 36, 606705;Deafness, autosomal recessive 7, 600974 30847515 False 3 0;100;0 1.214 False ENSG00000165091 ENSG00000165091 HGNC:16513 TMC6 gene TMC6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Epidermodysplasia verruciformis, 226400 30847515 False 3 0;100;0 1.214 False ENSG00000141524 ENSG00000141524 HGNC:18021 TMC8 gene TMC8 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Epidermodysplasia verruciformis 2, 618231 30847515 False 3 0;100;0 1.214 False ENSG00000167895 ENSG00000167895 HGNC:20474 TMCO1 gene TMCO1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 213980 30847515 False 3 0;100;0 1.214 False ENSG00000143183 ENSG00000143183 HGNC:18188 TMEM107 gene TMEM107 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome XVI, 617563;?Joubert syndrome 29, 617562;Meckel syndrome 13, 617562 30847515 False 3 0;100;0 1.214 False ENSG00000179029 ENSG00000179029 HGNC:28128 TMEM126B gene TMEM126B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 29, 618250 30847515 False 3 0;100;0 1.214 False ENSG00000171204 ENSG00000171204 HGNC:30883 TMEM138 gene TMEM138 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 16, 614465 30847515 False 3 0;100;0 1.214 False ENSG00000149483 ENSG00000149483 HGNC:26944 TMEM165 gene TMEM165 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIk, 614727 30847515 False 3 0;100;0 1.214 False ENSG00000134851 ENSG00000134851 HGNC:30760 TMEM173 gene TMEM173 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown STING-associated vasculopathy, infantile-onset, OMIM:615934 30847515 False 3 0;100;0 1.214 False ENSG00000184584 ENSG00000184584 HGNC:27962 TMEM216 gene TMEM216 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 2, 603194;Joubert syndrome 2, 608091 30847515 False 3 0;100;0 1.214 False ENSG00000187049 ENSG00000187049 HGNC:25018 TMEM231 gene TMEM231 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 20, 614970;Meckel syndrome 11, 615397 30847515 False 3 0;100;0 1.214 False ENSG00000205084 ENSG00000205084 HGNC:37234 TMEM237 gene TMEM237 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 14, 614424 30847515 False 3 0;100;0 1.214 False ENSG00000155755 ENSG00000155755 HGNC:14432 TMEM240 gene TMEM240 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 21, 607454 30847515 False 3 0;100;0 1.214 False ENSG00000205090 ENSG00000205090 HGNC:25186 TMEM38B gene TMEM38B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XIV, OMIM:615066;Osteogenesis imperfecta type 14, MONDO:0014029 30847515 False 3 0;100;0 1.214 False ENSG00000095209 ENSG00000095209 HGNC:25535 TMEM43 gene TMEM43 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Arrhythmogenic right ventricular dysplasia 5, 604400;Emery-Dreifuss muscular dystrophy 7, AD, 614302 30847515 False 3 0;100;0 1.214 False ENSG00000170876 ENSG00000170876 HGNC:28472 TMEM5 gene TMEM5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, 615041 30847515 False 3 0;100;0 1.214 False ENSG00000118600 ENSG00000118600 HGNC:13530 TMEM67 gene TMEM67 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 6, 610688;Meckel syndrome 3, 607361;Nephronophthisis 11, 613550;?RHYNS syndrome, 602152;COACH syndrome, 216360 30847515 False 3 0;100;0 1.214 False ENSG00000164953 ENSG00000164953 HGNC:28396 TMEM70 gene TMEM70 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 30847515 False 3 0;100;0 1.214 False ENSG00000175606 ENSG00000175606 HGNC:26050 TMEM94 gene TMEM94 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with cardiac defects and dysmorphic facies, 618316 30847515 False 3 0;100;0 1.214 False ENSG00000177728 ENSG00000177728 HGNC:28983 TMIE gene TMIE Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 6, 600971 30847515 False 3 0;100;0 1.214 False ENSG00000181585 ENSG00000181585 HGNC:30800 TMPRSS3 gene TMPRSS3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 8/10, 601072 30847515 False 3 0;100;0 1.214 False ENSG00000160183 ENSG00000160183 HGNC:11877 TMPRSS6 gene TMPRSS6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Iron-refractory iron deficiency anemia, 206200 30847515 False 3 0;100;0 1.214 False ENSG00000187045 ENSG00000187045 HGNC:16517 TMTC3 gene TMTC3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Lissencephaly 8, 617255 30847515 False 3 0;100;0 1.214 False ENSG00000139324 ENSG00000139324 HGNC:26899 TNFAIP3 gene TNFAIP3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autoinflammatory syndrome, familial, Behcet-like, OMIM:616744 30847515 False 3 0;100;0 1.214 False ENSG00000118503 ENSG00000118503 HGNC:11896 TNFRSF11A gene TNFRSF11A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Osteolysis, familial expansile, 174810;Osteopetrosis, autosomal recessive 7, 612301 30847515 False 3 0;100;0 1.214 False ENSG00000141655 ENSG00000141655 HGNC:11908 TNFRSF11B gene TNFRSF11B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Paget disease of bone 5, juvenile-onset, 239000 30847515 False 3 0;100;0 1.214 False ENSG00000164761 ENSG00000164761 HGNC:11909 TNFRSF13B gene TNFRSF13B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Immunoglobulin A deficiency 2, 609529;Immunodeficiency, common variable, 2, 240500 30847515 False 3 0;100;0 1.214 False ENSG00000240505 ENSG00000240505 HGNC:18153 TNFRSF13C gene TNFRSF13C Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 4, 613494 30847515 False 3 0;100;0 1.214 False ENSG00000159958 ENSG00000159958 HGNC:17755 TNFRSF1A gene TNFRSF1A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Periodic fever, familial, OMIM:142680 30847515 False 3 0;100;0 1.214 False ENSG00000067182 ENSG00000067182 HGNC:11916 TNFSF11 gene TNFSF11 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 2, 259710 30847515 False 3 0;100;0 1.214 False ENSG00000120659 ENSG00000120659 HGNC:11926 TNNI2 gene TNNI2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Arthrogryposis, distal, type 2B1, 601680 30847515 False 3 0;100;0 1.214 False ENSG00000130598 ENSG00000130598 HGNC:11946 TNNT1 gene TNNT1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 5, Amish type, 605355 30847515 False 3 0;100;0 1.214 False ENSG00000105048 ENSG00000105048 HGNC:11948 TNNT3 gene TNNT3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Arthrogryposis, distal, type 2B2, OMIM:618435;Arthrogryposis, distal, type 2B2, MONDO:0032750 30847515 False 3 0;100;0 1.214 False ENSG00000130595 ENSG00000130595 HGNC:11950 TNS2 gene TNS2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal nephrotic syndrome 30847515 False 3 0;100;0 1.214 False ENSG00000111077 ENSG00000111077 HGNC:19737 TOE1 gene TOE1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 7, 614969 30847515 False 3 0;100;0 1.214 False ENSG00000132773 ENSG00000132773 HGNC:15954 TOP3A gene TOP3A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, growth restriction, and increased sister chromatid exchange 2, 618097;?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 30847515 False 3 0;100;0 1.214 False ENSG00000177302 ENSG00000177302 HGNC:11992 TOR1A gene TOR1A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arthrogryposis multiplex congenita 5, OMIM:618947;Arthrogryposis multiplex congenita 5, MONDO:0100218;Dystonia-1, torsion, OMIM:128100;Dystonic disorder, MONDO:0003441 30847515 False 3 0;100;0 1.214 False ENSG00000136827 ENSG00000136827 HGNC:3098 TP53 gene TP53 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Bone marrow failure syndrome 5, 618165;Li-Fraumeni syndrome, 151623 30847515 False 3 0;100;0 1.214 False ENSG00000141510 ENSG00000141510 HGNC:11998 TP53RK gene TP53RK Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 4, 617730 30847515 False 3 0;100;0 1.214 False ENSG00000172315 ENSG00000172315 HGNC:16197 TP63 gene TP63 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Orofacial cleft 8, 618149;Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292;Hay-Wells syndrome, 106260;Split-hand/foot malformation 4, 605289;ADULT syndrome, 103285;Limb-mammary syndrome, 603543;Rapp-Hodgkin syndrome, 129400 30847515 False 3 0;100;0 1.214 False ENSG00000073282 ENSG00000073282 HGNC:15979 TPI1 gene TPI1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hemolytic anemia due to triosephosphate isomerase deficiency, 615512 30847515 False 3 0;100;0 1.214 False ENSG00000111669 ENSG00000111669 HGNC:12009 TPK1 gene TPK1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 30847515 False 3 0;100;0 1.214 False ENSG00000196511 ENSG00000196511 HGNC:17358 TPM2 gene TPM2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CAP myopathy 2, 609285;Arthrogryposis, distal, type 2B4, 108120;Nemaline myopathy 4, autosomal dominant, 609285;Arthrogryposis, distal, type 1A, 108120 30847515 False 3 0;100;0 1.214 False ENSG00000198467 ENSG00000198467 HGNC:12011 TPM3 gene TPM3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Nemaline myopathy 1, autosomal dominant or recessive, 609284;CAP myopathy 1, 609284;Myopathy, congenital, with fiber-type disproportion, 255310 30847515 False 3 0;100;0 1.214 False ENSG00000143549 ENSG00000143549 HGNC:12012 TPO gene TPO Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Thyroid dyshormonogenesis 2A, 274500 30847515 False 3 0;100;0 1.214 False ENSG00000115705 ENSG00000115705 HGNC:12015 TPP1 gene TPP1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 2, 204500;Spinocerebellar ataxia, autosomal recessive 7, 609270 30847515 False 3 0;100;0 1.214 False ENSG00000166340 ENSG00000166340 HGNC:2073 TPP2 gene TPP2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal TPP2 deficiency 30847515 False 3 0;100;0 1.214 False ENSG00000134900 ENSG00000134900 HGNC:12016 TPRKB gene TPRKB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 5, 617731 30847515 False 3 0;100;0 1.214 False ENSG00000144034 ENSG00000144034 HGNC:24259 TRAC gene TRAC Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 7, TCR-alpha/beta deficient, 615387 30847515 False 3 0;100;0 1.214 False ENSG00000229164 ENSG00000277734 HGNC:12029 TRAF3IP1 gene TRAF3IP1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome 9, 616629 30847515 False 3 0;100;0 1.214 False ENSG00000204104 ENSG00000204104 HGNC:17861 TRAF7 gene TRAF7 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiac, facial, and digital anomalies with developmental delay, 618164 30847515 False 3 0;100;0 1.214 False ENSG00000131653 ENSG00000131653 HGNC:20456 TRAIP gene TRAIP Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 9, 616777 30847515 False 3 0;100;0 1.214 False ENSG00000183763 ENSG00000183763 HGNC:30764 TRAK1 gene TRAK1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 68, 618201 30847515 False 3 0;100;0 1.214 False ENSG00000182606 ENSG00000182606 HGNC:29947 TRAP1 gene TRAP1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal CAKUT;VACTERL 30847515 False 3 0;100;0 1.214 False ENSG00000126602 ENSG00000126602 HGNC:16264 TRAPPC11 gene TRAPPC11 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 18, 615356 30847515 False 3 0;100;0 1.214 False ENSG00000168538 ENSG00000168538 HGNC:25751 TRAPPC12 gene TRAPPC12 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, OMIM:617669;Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, MONDO:0044696 30847515 False 3 0;100;0 1.214 False ENSG00000171853 ENSG00000171853 HGNC:24284 TRAPPC2 gene TRAPPC2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Spondyloepiphyseal dysplasia tarda, 313400 30847515 False 3 0;100;0 1.214 False ENSG00000196459 ENSG00000196459 HGNC:23068 TRAPPC9 gene TRAPPC9 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 13, 613192 30847515 False 3 0;100;0 1.214 False ENSG00000167632 ENSG00000167632 HGNC:30832 TREM2 gene TREM2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193 30847515 False 3 0;100;0 1.214 False ENSG00000095970 ENSG00000095970 HGNC:17761 TREX1 gene TREX1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 1, dominant and recessive, 225750;Chilblain lupus, 610448;Vasculopathy, retinal, with cerebral leukodystrophy, 192315 30847515 False 3 0;100;0 1.214 False ENSG00000213689 ENSG00000213689 HGNC:12269 TRIM32 gene TRIM32 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Bardet-Biedl syndrome 11, 615988;Muscular dystrophy, limb-girdle, autosomal recessive 8, 254110 30847515 False 3 0;100;0 1.214 False ENSG00000119401 ENSG00000119401 HGNC:16380 TRIM37 gene TRIM37 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mulibrey nanism, 253250 30847515 False 3 0;100;0 1.214 False ENSG00000108395 ENSG00000108395 HGNC:7523 TRIM71 gene TRIM71 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital hydrocephalus 30847515 False 3 0;100;0 1.214 False ENSG00000206557 ENSG00000206557 HGNC:32669 TRIM8 gene TRIM8 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Seizures;Global developmental delay;Intellectual disability 30847515 False 3 0;100;0 1.214 False ENSG00000171206 ENSG00000171206 HGNC:15579 TRIO gene TRIO Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 44, 617061 30847515 False 3 0;100;0 1.214 False ENSG00000038382 ENSG00000038382 HGNC:12303 TRIOBP gene TRIOBP Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 28, 609823 30847515 False 3 0;100;0 1.214 False ENSG00000100106 ENSG00000100106 HGNC:17009 TRIP11 gene TRIP11 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Osteochondrodysplasia, 184260;Achondrogenesis, type IA, 200600 30847515 False 3 0;100;0 1.214 False ENSG00000100815 ENSG00000100815 HGNC:12305 TRIP12 gene TRIP12 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 49, 617752 30847515 False 3 0;100;0 1.214 False ENSG00000153827 ENSG00000153827 HGNC:12306 TRIP4 gene TRIP4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866;Prenatal-onset spinal muscular atrophy with congenital bone fractures, MONDO:0000209;Spinal muscular atrophy with congenital bone fractures 1, MONDO:0014806;?Muscular dystrophy, congenital, Davignon-Chauveau type, OMIM:617066;Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome, MONDO:0014896 26924529;27008887 False 3 0;100;0 1.214 False ENSG00000103671 ENSG00000103671 HGNC:12310 TRIT1 gene TRIT1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 35, 617873 30847515 False 3 0;100;0 1.214 False ENSG00000043514 ENSG00000043514 HGNC:20286 TRMT1 gene TRMT1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 68, 618302 30847515 False 3 0;100;0 1.214 False ENSG00000104907 ENSG00000104907 HGNC:25980 TRMT10A gene TRMT10A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, short stature, and impaired glucose metabolism 1, 616033 30847515 False 3 0;100;0 1.214 False ENSG00000145331 ENSG00000145331 HGNC:28403 TRMT10C gene TRMT10C Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 30, 616974 30847515 False 3 0;100;0 1.214 False ENSG00000174173 ENSG00000174173 HGNC:26022 TRMT5 gene TRMT5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 26, 616539 30847515 False 3 0;100;0 1.214 False ENSG00000126814 ENSG00000126814 HGNC:23141 TRMU gene TRMU Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Liver failure, transient infantile, 613070 30847515 False 3 0;100;0 1.214 False ENSG00000100416 ENSG00000100416 HGNC:25481 TRNT1 gene TRNT1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084;Retinitis pigmentosa and erythrocytic microcytosis, 616959 30847515 False 3 0;100;0 1.214 False ENSG00000072756 ENSG00000072756 HGNC:17341 TRPC6 gene TRPC6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Glomerulosclerosis, focal segmental, 2, 603965 30847515 False 3 0;100;0 1.214 False ENSG00000137672 ENSG00000137672 HGNC:12338 TRPM1 gene TRPM1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 30847515 False 3 0;100;0 1.214 False ENSG00000134160 ENSG00000134160 HGNC:7146 TRPM4 gene TRPM4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Erythrokeratodermia veriabilis et progressiva 6, 618531;Progressive familial heart block, type IB, 604559 30847515 False 3 0;100;0 1.214 False ENSG00000130529 ENSG00000130529 HGNC:17993 TRPM6 gene TRPM6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hypomagnesemia 1, intestinal, 602014 30847515 False 3 0;100;0 1.214 False ENSG00000119121 ENSG00000119121 HGNC:17995 TRPS1 gene TRPS1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Trichorhinophalangeal syndrome, type I, 190350;Trichorhinophalangeal syndrome, type III, 190351 30847515 False 3 0;100;0 1.214 False ENSG00000104447 ENSG00000104447 HGNC:12340 TRPV4 gene TRPV4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Digital arthropathy-brachydactyly, familial, 606835;Metatropic dysplasia, 156530;Spinal muscular atrophy, distal, congenital nonprogressive, 600175;Brachyolmia type 3, 113500;Hereditary motor and sensory neuropathy, type IIc, 606071;Scapuloperoneal spinal muscular atrophy, 181405;[Sodium serum level QTL 1], 613508;Spondylometaphyseal dysplasia, Kozlowski type, 184252;SED, Maroteaux type, 184095;?Avascular necrosis of femoral head, primary, 2, 617383;Parastremmatic dwarfism, 168400 30847515 False 3 0;100;0 1.214 False ENSG00000111199 ENSG00000111199 HGNC:18083 TRPV6 gene TRPV6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hyperparathyroidism, transient neonatal, 618188 30847515 False 3 0;100;0 1.214 False ENSG00000165125 ENSG00000165125 HGNC:14006 TRRAP gene TRRAP Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental delay with or without dysmorphic facies and autism, 618454 30847515 False 3 0;100;0 1.214 False ENSG00000196367 ENSG00000196367 HGNC:12347 TSC1 gene TSC1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Tuberous sclerosis-1, 191100;Lymphangioleiomyomatosis, 606690 30847515 False 3 0;100;0 1.214 False ENSG00000165699 ENSG00000165699 HGNC:12362 TSC2 gene TSC2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tuberous sclerosis-2, 613254 30847515 False 3 0;100;0 1.214 False ENSG00000103197 ENSG00000103197 HGNC:12363 TSEN2 gene TSEN2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2B, 612389 30847515 False 3 0;100;0 1.214 False ENSG00000154743 ENSG00000154743 HGNC:28422 TSEN54 gene TSEN54 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 4, 225753;Pontocerebellar hypoplasia type 2A, 277470;?Pontocerebellar hypoplasia type 5, 610204 30847515 False 3 0;100;0 1.214 False ENSG00000182173 ENSG00000182173 HGNC:27561 TSFM gene TSFM Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 3, 610505 30847515 False 3 0;100;0 1.214 False ENSG00000123297 ENSG00000123297 HGNC:12367 TSHB gene TSHB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hypothyroidism, congenital, nongoitrous 4, 275100 30847515 False 3 0;100;0 1.214 False ENSG00000134200 ENSG00000134200 HGNC:12372 TSHR gene TSHR Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperthyroidism, nonautoimmune, 609152;Hyperthyroidism, familial gestational, 603373;Hypothyroidism, congenital, nongoitrous, 1, 275200 30847515 False 3 0;100;0 1.214 False ENSG00000165409 ENSG00000165409 HGNC:12373 TSPAN7 gene TSPAN7 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked 58, 300210 30847515 False 3 0;100;0 1.214 False ENSG00000156298 ENSG00000156298 HGNC:11854 TTBK2 gene TTBK2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 11, 604432 30847515 False 3 0;100;0 1.214 False ENSG00000128881 ENSG00000128881 HGNC:19141 TTC19 gene TTC19 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 2, 615157 30847515 False 3 0;100;0 1.214 False ENSG00000011295 ENSG00000011295 HGNC:26006 TTC21B gene TTC21B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Short-rib thoracic dysplasia 4 with or without polydactyly, 613819;Nephronophthisis 12, 613820 30847515 False 3 0;100;0 1.214 False ENSG00000123607 ENSG00000123607 HGNC:25660 TTC37 gene TTC37 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Trichohepatoenteric syndrome 1, 222470 30847515 False 3 0;100;0 1.214 False ENSG00000198677 ENSG00000198677 HGNC:23639 TTC7A gene TTC7A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Gastrointestinal defects and immunodeficiency syndrome, 243150 30847515 False 3 0;100;0 1.214 False ENSG00000068724 ENSG00000068724 HGNC:19750 TTC8 gene TTC8 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal ?Retinitis pigmentosa 51, 613464;Bardet-Biedl syndrome 8, 615985 30847515 False 3 0;100;0 1.214 False ENSG00000165533 ENSG00000165533 HGNC:20087 TTI2 gene TTI2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 39, 615541 30847515 False 3 0;100;0 1.214 False ENSG00000129696 ENSG00000129696 HGNC:26262 TTN gene TTN Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Tibial muscular dystrophy, tardive, 600334;Salih myopathy, 611705;Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807;Myopathy, myofibrillar, 9, with early respiratory failure, 603689;Cardiomyopathy, familial hypertrophic, 9, 613765;Cardiomyopathy, dilated, 1G, 604145 30847515 False 3 0;100;0 1.214 False ENSG00000155657 ENSG00000155657 HGNC:12403 TTPA gene TTPA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ataxia with isolated vitamin E deficiency, 277460 30847515 False 3 0;100;0 1.214 False ENSG00000137561 ENSG00000137561 HGNC:12404 TTR gene TTR Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Carpal tunnel syndrome, familial, 115430;Amyloidosis, hereditary, transthyretin-related, 105210 30847515 False 3 0;100;0 1.214 False ENSG00000118271 ENSG00000118271 HGNC:12405 TUBA1A gene TUBA1A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lissencephaly 3, 611603 30847515 False 3 0;100;0 1.214 False ENSG00000167552 ENSG00000167552 HGNC:20766 TUBA8 gene TUBA8 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia, complex, with other brain malformations 8, 613180 30847515 False 3 0;50;50 1.214 False ENSG00000183785 ENSG00000183785 HGNC:12410 TUBB gene TUBB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Symmetric circumferential skin creases, congenital, 1, 156610;Cortical dysplasia, complex, with other brain malformations 6, 615771 30847515 False 3 0;100;0 1.214 False ENSG00000196230 ENSG00000196230 HGNC:20778 TUBB1 gene TUBB1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 30847515 False 3 0;100;0 1.214 False ENSG00000101162 ENSG00000101162 HGNC:16257 TUBB2A gene TUBB2A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cortical dysplasia, complex, with other brain malformations 5, OMIM:615763;Complex cortical dysplasia with other brain malformations 5, MONDO:0014337 30847515 False 3 50;50;0 1.214 False ENSG00000137267 ENSG00000137267 HGNC:12412 TUBB2B gene TUBB2B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cortical dysplasia, complex, with other brain malformations 7, 610031 30847515 False 3 0;100;0 1.214 False ENSG00000137285 ENSG00000137285 HGNC:30829 TUBB3 gene TUBB3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Fibrosis of extraocular muscles, congenital, 3A, 600638;Cortical dysplasia, complex, with other brain malformations 1, 614039 30847515 False 3 0;100;0 1.214 False ENSG00000258947 ENSG00000258947 HGNC:20772 TUBB4A gene TUBB4A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Leukodystrophy, hypomyelinating, 6, 612438;Dystonia 4, torsion, autosomal dominant, 128101 30847515 False 3 0;100;0 1.214 False ENSG00000104833 ENSG00000104833 HGNC:20774 TUBG1 gene TUBG1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cortical dysplasia, complex, with other brain malformations 4, 615412 30847515 False 3 0;100;0 1.214 False ENSG00000131462 ENSG00000131462 HGNC:12417 TUBGCP4 gene TUBGCP4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 30847515 False 3 0;100;0 1.214 False ENSG00000137822 ENSG00000137822 HGNC:16691 TUBGCP6 gene TUBGCP6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 30847515 False 3 0;100;0 1.214 False ENSG00000128159 ENSG00000128159 HGNC:18127 TUFM gene TUFM Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 4, 610678 30847515 False 3 0;100;0 1.214 False ENSG00000178952 ENSG00000178952 HGNC:12420 TUSC3 gene TUSC3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 7, 611093 30847515 False 3 0;100;0 1.214 False ENSG00000104723 ENSG00000104723 HGNC:30242 TWIST1 gene TWIST1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Saethre-Chotzen syndrome with or without eyelid anomalies, 101400;Sweeney-Cox syndrome, 617746;Robinow-Sorauf syndrome, 180750;Craniosynostosis 1, 123100 30847515 False 3 0;100;0 1.214 False ENSG00000122691 ENSG00000122691 HGNC:12428 TWIST2 gene TWIST2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ablepharon-macrostomia syndrome, 200110;Focal facial dermal dysplasia 3, Setleis type, 227260;Barber-Say syndrome, 209885 30847515 False 3 0;100;0 1.214 False ENSG00000233608 ENSG00000233608 HGNC:20670 TWNK gene TWNK Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Perrault syndrome 5, 616138;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286;Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 30847515 False 3 0;100;0 1.214 False ENSG00000107815 ENSG00000107815 HGNC:1160 TXNDC15 gene TXNDC15 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Meckel-Gruber syndrome;MGS 30847515 False 3 0;100;0 1.214 False ENSG00000113621 ENSG00000113621 HGNC:20652 TXNL4A gene TXNL4A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Burn-McKeown syndrome, 608572 30847515 False 3 0;100;0 1.214 False ENSG00000141759 ENSG00000141759 HGNC:30551 TYK2 gene TYK2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 35, 611521 30847515 False 3 0;100;0 1.214 False ENSG00000105397 ENSG00000105397 HGNC:12440 TYMP gene TYMP Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 30847515 False 3 0;100;0 1.214 False ENSG00000025708 ENSG00000025708 HGNC:3148 TYR gene TYR Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Albinism, oculocutaneous, type IA, 203100;Albinism, oculocutaneous, type IB, 606952;Waardenburg syndrome/albinism, digenic, 103470 30847515 False 3 0;100;0 1.214 False ENSG00000077498 ENSG00000077498 HGNC:12442 TYROBP gene TYROBP Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, 221770 30847515 False 3 0;100;0 1.214 False ENSG00000011600 ENSG00000011600 HGNC:12449 TYRP1 gene TYRP1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Albinism, oculocutaneous, type III, 203290 30847515 False 3 0;100;0 1.214 False ENSG00000107165 ENSG00000107165 HGNC:12450 UBA1 gene UBA1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Spinal muscular atrophy, X-linked 2, infantile, 301830 30847515 False 3 0;100;0 1.214 False ENSG00000130985 ENSG00000130985 HGNC:12469 UBA5 gene UBA5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 44, 617132;?Spinocerebellar ataxia, autosomal recessive 24, 617133 30847515 False 3 0;100;0 1.214 False ENSG00000081307 ENSG00000081307 HGNC:23230 UBAP1 gene UBAP1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 80, autosomal dominant, 618418 30847515 False 3 0;100;0 1.214 False ENSG00000165006 ENSG00000165006 HGNC:12461 UBE2A gene UBE2A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked syndromic, Nascimento-type, 300860 30847515 False 3 0;100;0 1.214 False ENSG00000077721 ENSG00000077721 HGNC:12472 UBE2T gene UBE2T Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group T, 616435 30847515 False 3 0;100;0 1.214 False ENSG00000077152 ENSG00000077152 HGNC:25009 UBE3A gene UBE3A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Angelman syndrome, 105830 30847515 False 3 0;100;0 1.214 False ENSG00000114062 ENSG00000114062 HGNC:12496 UBE3B gene UBE3B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Kaufman oculocerebrofacial syndrome, 244450 30847515 False 3 0;100;0 1.214 False ENSG00000151148 ENSG00000151148 HGNC:13478 UBR1 gene UBR1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Johanson-Blizzard syndrome, 243800 30847515 False 3 0;100;0 1.214 False ENSG00000159459 ENSG00000159459 HGNC:16808 UBTF gene UBTF Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodegeneration, childhood-onset, with brain atrophy, 617672 30847515 False 3 0;100;0 1.214 False ENSG00000108312 ENSG00000108312 HGNC:12511 UCHL1 gene UCHL1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 79B, autosomal recessive, OMIM:615491;early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209;Spastic paraplegia 79A, autosomal dominant, OMIM:620221 30847515;35986737 False 3 50;50;0 1.214 False ENSG00000154277 ENSG00000154277 HGNC:12513 UFC1 gene UFC1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with spasticity and poor growth, 618076 30847515 False 3 0;100;0 1.214 False ENSG00000143222 ENSG00000143222 HGNC:26941 UFM1 gene UFM1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 14, 617899 30847515 False 3 0;100;0 1.214 False ENSG00000120686 ENSG00000120686 HGNC:20597 UGT1A1 gene UGT1A1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Crigler-Najjar syndrome, type I, 218800;Crigler-Najjar syndrome, type II, 606785;Hyperbilirubinemia, familial transient neonatal, 237900 30847515 False 3 0;100;0 1.214 False ENSG00000241635 ENSG00000241635 HGNC:12530 UMOD gene UMOD Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886;Medullary cystic kidney disease 2, 603860;Hyperuricemic nephropathy, familial juvenile 1, 162000 30847515 False 3 0;100;0 1.214 False ENSG00000169344 ENSG00000169344 HGNC:12559 UMPS gene UMPS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Orotic aciduria, 258900 30847515 False 3 0;100;0 1.214 False ENSG00000114491 ENSG00000114491 HGNC:12563 UNC13D gene UNC13D Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hemophagocytic lymphohistiocytosis, familial, 3, 608898 30847515 False 3 0;100;0 1.214 False ENSG00000092929 ENSG00000092929 HGNC:23147 UNC80 gene UNC80 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, 616801 30847515 False 3 0;100;0 1.214 False ENSG00000144406 ENSG00000144406 HGNC:26582 UNC93B1 gene UNC93B1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, 610551 30847515 False 3 0;100;0 1.214 False ENSG00000110057 ENSG00000110057 HGNC:13481 UNG gene UNG Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency with hyper IgM, type 5, 608106 30847515 False 3 0;100;0 1.214 False ENSG00000076248 ENSG00000076248 HGNC:12572 UPF3B gene UPF3B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked, syndromic 14, 300676 30847515 False 3 0;100;0 1.214 False ENSG00000125351 ENSG00000125351 HGNC:20439 UQCC2 gene UQCC2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 7, 615824 30847515 False 3 0;100;0 1.214 False ENSG00000137288 ENSG00000137288 HGNC:21237 UQCRB gene UQCRB Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 3, 615158 30847515 False 3 0;100;0 1.214 False ENSG00000156467 ENSG00000156467 HGNC:12582 UROD gene UROD Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Porphyria cutanea tarda, 176100;Porphyria, hepatoerythropoietic, 176100 30847515 False 3 0;100;0 1.214 False ENSG00000126088 ENSG00000126088 HGNC:12591 UROS gene UROS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Porphyria, congenital erythropoietic, 263700 30847515 False 3 0;100;0 1.214 False ENSG00000188690 ENSG00000188690 HGNC:12592 USB1 gene USB1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Poikiloderma with neutropenia, 604173 30847515 False 3 0;100;0 1.214 False ENSG00000103005 ENSG00000103005 HGNC:25792 USH1C gene USH1C Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 18A, 602092;Usher syndrome, type 1C, 276904 30847515 False 3 0;100;0 1.214 False ENSG00000006611 ENSG00000006611 HGNC:12597 USH1G gene USH1G Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 1G, 606943 30847515 False 3 0;100;0 1.214 False ENSG00000182040 ENSG00000182040 HGNC:16356 USH2A gene USH2A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Usher syndrome, type 2A, 276901;Retinitis pigmentosa 39, 613809 30847515 False 3 0;100;0 1.214 False ENSG00000042781 ENSG00000042781 HGNC:12601 USP18 gene USP18 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Pseudo-TORCH syndrome 2, 617397 30847515 False 3 0;100;0 1.214 False ENSG00000184979 ENSG00000184979 HGNC:12616 USP9X gene USP9X Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked 99, syndromic, female-restricted, 300968;Mental retardation, X-linked 99, 300919 30847515 False 3 0;100;0 1.214 False ENSG00000124486 ENSG00000124486 HGNC:12632 UVSSA gene UVSSA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal UV-sensitive syndrome 3, 614640 30847515 False 3 0;100;0 1.214 False ENSG00000163945 ENSG00000163945 HGNC:29304 VAC14 gene VAC14 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Striatonigral degeneration, childhood-onset, 617054 30847515 False 3 0;100;0 1.214 False ENSG00000103043 ENSG00000103043 HGNC:25507 VAMP1 gene VAMP1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 25, 618323;Spastic ataxia 1, autosomal dominant, 108600 30847515 False 3 0;100;0 1.214 False ENSG00000139190 ENSG00000139190 HGNC:12642 VAMP2 gene VAMP2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Stereotypic behavior;Global developmental delay;Generalized hypotonia;Autistic behavior;Abnormality of movement;Seizures;Cortical visual impairment;Intellectual disability;Generalized hypotonia, Global developmental delay, Intellectual disability, Autistic behavior, Stereotypic behavior, Seizures, Abnormality of movement, Cortical visual impairment 30847515 False 3 0;100;0 1.214 False ENSG00000220205 ENSG00000220205 HGNC:12643 VARS gene VARS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 30847515 False 3 0;100;0 1.214 False ENSG00000204394 ENSG00000204394 HGNC:12651 VARS2 gene VARS2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 20, 615917 30847515 False 3 0;100;0 1.214 False ENSG00000137411 ENSG00000137411 HGNC:21642 VCAN gene VCAN Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Wagner syndrome 1, 143200 30847515 False 3 0;100;0 1.214 False ENSG00000038427 ENSG00000038427 HGNC:2464 VCP gene VCP Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954;Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320;Charcot-Marie-Tooth disease, type 2Y, 616687 30847515 False 3 0;100;0 1.214 False ENSG00000165280 ENSG00000165280 HGNC:12666 VDR gene VDR Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Rickets, vitamin D-resistant, type IIA, 277440 30847515 False 3 0;100;0 1.214 False ENSG00000111424 ENSG00000111424 HGNC:12679 VHL gene VHL Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Erythrocytosis, familial, 2, 263400;von Hippel-Lindau syndrome, 193300;Pheochromocytoma, 171300 30847515 False 3 0;100;0 1.214 False ENSG00000134086 ENSG00000134086 HGNC:12687 VIPAS39 gene VIPAS39 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 30847515 False 3 0;100;0 1.214 False ENSG00000151445 ENSG00000151445 HGNC:20347 VKORC1 gene VKORC1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Vitamin K-dependent clotting factors, combined deficiency of, 2, 607473;Warfarin resistance, 122700 30847515 False 3 0;100;0 1.214 False ENSG00000167397 ENSG00000167397 HGNC:23663 VLDLR gene VLDLR Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 30847515 False 3 0;100;0 1.214 False ENSG00000147852 ENSG00000147852 HGNC:12698 VMA21 gene VMA21 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Myopathy, X-linked, with excessive autophagy, 310440 30847515 False 3 0;100;0 1.214 False ENSG00000160131 ENSG00000160131 HGNC:22082 VPS11 gene VPS11 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 12, 616683 30847515 False 3 0;100;0 1.214 False ENSG00000160695 ENSG00000160695 HGNC:14583 VPS13A gene VPS13A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Choreoacanthocytosis, 200150 30847515 False 3 0;100;0 1.214 False ENSG00000197969 ENSG00000197969 HGNC:1908 VPS13B gene VPS13B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Cohen syndrome, 216550 30847515 False 3 0;100;0 1.214 False ENSG00000132549 ENSG00000132549 HGNC:2183 VPS13D gene VPS13D Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 4, 607317 30847515 False 3 0;100;0 1.214 False ENSG00000048707 ENSG00000048707 HGNC:23595 VPS33B gene VPS33B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 30847515 False 3 0;100;0 1.214 False ENSG00000184056 ENSG00000184056 HGNC:12712 VPS45 gene VPS45 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Neutropenia, severe congenital, 5, autosomal recessive, 615285 30847515 False 3 0;100;0 1.214 False ENSG00000136631 ENSG00000136631 HGNC:14579 VPS53 gene VPS53 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 2E, 615851 30847515 False 3 0;100;0 1.214 False ENSG00000141252 ENSG00000141252 HGNC:25608 VRK1 gene VRK1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 1A, 607596 30847515 False 3 0;100;0 1.214 False ENSG00000100749 ENSG00000100749 HGNC:12718 VSX2 gene VSX2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Microphthalmia with coloboma 3, 610092;Microphthalmia, isolated 2, 610093 30847515 False 3 0;100;0 1.214 False ENSG00000119614 ENSG00000119614 HGNC:1975 VWF gene VWF Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal von Willibrand disease, type 3, 277480;von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554;von Willebrand disease, type 1, 193400 30847515 False 3 0;100;0 1.214 False ENSG00000110799 ENSG00000110799 HGNC:12726 WAC gene WAC Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Desanto-Shinawi syndrome, 616708 30847515 False 3 0;100;0 1.214 False ENSG00000095787 ENSG00000095787 HGNC:17327 WARS2 gene WARS2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 30847515 False 3 0;100;0 1.214 False ENSG00000116874 ENSG00000116874 HGNC:12730 WAS gene WAS Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Thrombocytopenia, X-linked, intermittent, 313900;Neutropenia, severe congenital, X-linked, 300299;Wiskott-Aldrich syndrome, 301000;Thrombocytopenia, X-linked, 313900 30847515 False 3 0;100;0 1.214 False ENSG00000015285 ENSG00000015285 HGNC:12731 WASF1 gene WASF1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual Disability with Seizures. 30847515 False 3 0;100;0 1.214 False ENSG00000112290 ENSG00000112290 HGNC:12732 WASHC5 gene WASHC5 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 8, autosomal dominant, 603563;Ritscher-Schinzel syndrome 1, 220210 30847515 False 3 0;100;0 1.214 False ENSG00000164961 ENSG00000164961 HGNC:28984 WDR11 gene WDR11 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypogonadotropic hypogonadism 14 with or without anosmia, 614858 30847515 False 3 0;100;0 1.214 False ENSG00000120008 ENSG00000120008 HGNC:13831 WDR19 gene WDR19 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome 8, 616307;?Cranioectodermal dysplasia 4, 614378;Nephronophthisis 13, 614377;?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 30847515 False 3 0;100;0 1.214 False ENSG00000157796 ENSG00000157796 HGNC:18340 WDR26 gene WDR26 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Skraban-Deardorff syndrome, 617616 30847515 False 3 0;100;0 1.214 False ENSG00000162923 ENSG00000162923 HGNC:21208 WDR34 gene WDR34 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 30847515 False 3 0;100;0 1.214 False ENSG00000119333 ENSG00000119333 HGNC:28296 WDR35 gene WDR35 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 7 with or without polydactyly, 614091;Cranioectodermal dysplasia 2, 613610 30847515 False 3 0;100;0 1.214 False ENSG00000118965 ENSG00000118965 HGNC:29250 WDR37 gene WDR37 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurooculocardiogenitourinary syndrome, 618652 30847515 False 3 0;100;0 1.214 False ENSG00000047056 ENSG00000047056 HGNC:31406 WDR4 gene WDR4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, growth deficiency, seizures, and brain malformations, 618346;Galloway-Mowat syndrome 6, 618347 30847515 False 3 0;100;0 1.214 False ENSG00000160193 ENSG00000160193 HGNC:12756 WDR45 gene WDR45 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Neurodegeneration with brain iron accumulation 5, 300894 30847515 False 3 0;100;0 1.214 False ENSG00000196998 ENSG00000196998 HGNC:28912 WDR45B gene WDR45B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 30847515 False 3 0;100;0 1.214 False ENSG00000141580 ENSG00000141580 HGNC:25072 WDR60 gene WDR60 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 30847515 False 3 0;100;0 1.214 False ENSG00000126870 ENSG00000126870 HGNC:21862 WDR62 gene WDR62 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 30847515 False 3 0;100;0 1.214 False ENSG00000075702 ENSG00000075702 HGNC:24502 WDR73 gene WDR73 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 1, 251300 30847515 False 3 0;100;0 1.214 False ENSG00000177082 ENSG00000177082 HGNC:25928 WDR81 gene WDR81 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Hydrocephalus, congenital, 3, with brain anomalies, 617967;Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 30847515 False 3 0;100;0 1.214 False ENSG00000167716 ENSG00000167716 HGNC:26600 WFS1 gene WFS1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Wolfram-like syndrome, autosomal dominant, 614296;?Cataract 41, 116400;Wolfram syndrome 1, 222300;Deafness, autosomal dominant 6/14/38, 600965 30847515 False 3 0;100;0 1.214 False ENSG00000109501 ENSG00000109501 HGNC:12762 WISP3 gene WISP3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Arthropathy, progressive pseudorheumatoid, of childhood, 208230;Spondyloepiphyseal dysplasia tarda with progressive arthropathy, 208230 30847515 False 3 0;100;0 1.214 False ENSG00000112761 ENSG00000112761 HGNC:12771 WNT1 gene WNT1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XV, 615220 30847515 False 3 0;100;0 1.214 False ENSG00000125084 ENSG00000125084 HGNC:12774 WNT10A gene WNT10A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Tooth agenesis, selective, 4, 150400;Schopf-Schulz-Passarge syndrome, 224750;Odontoonychodermal dysplasia, 257980 30847515 False 3 0;100;0 1.214 False ENSG00000135925 ENSG00000135925 HGNC:13829 WNT10B gene WNT10B Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Split-hand/foot malformation 6, 225300;Tooth agenesis, selective, 8, 617073 30847515 False 3 0;100;0 1.214 False ENSG00000169884 ENSG00000169884 HGNC:12775 WNT5A gene WNT5A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Robinow syndrome, autosomal dominant 1, 180700 30847515 False 3 0;100;0 1.214 False ENSG00000114251 ENSG00000114251 HGNC:12784 WNT7A gene WNT7A Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Ulna and fibula, absence of, with severe limb deficiency, 276820;Fuhrmann syndrome, 228930 30847515 False 3 0;100;0 1.214 False ENSG00000154764 ENSG00000154764 HGNC:12786 WRAP53 gene WRAP53 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 3, 613988 30847515 False 3 0;100;0 1.214 False ENSG00000141499 ENSG00000141499 HGNC:25522 WRN gene WRN Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Werner syndrome, 277700 30847515 False 3 0;100;0 1.214 False ENSG00000165392 ENSG00000165392 HGNC:12791 WT1 gene WT1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Wilms tumor, type 1, 194070;Denys-Drash syndrome, 194080;Frasier syndrome, 136680;Meacham syndrome, 608978;Nephrotic syndrome, type 4, 256370 30847515 False 3 0;100;0 1.214 False ENSG00000184937 ENSG00000184937 HGNC:12796 WWOX gene WWOX Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 28, 616211;Spinocerebellar ataxia, autosomal recessive 12, 614322 30847515 False 3 0;100;0 1.214 False ENSG00000186153 ENSG00000186153 HGNC:12799 XDH gene XDH Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Xanthinuria, type I, 278300 30847515 False 3 0;100;0 1.214 False ENSG00000158125 ENSG00000158125 HGNC:12805 XIAP gene XIAP Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Lymphoproliferative syndrome, X-linked, 2, 300635 30847515 False 3 0;100;0 1.214 False ENSG00000101966 ENSG00000101966 HGNC:592 XPA gene XPA Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group A, 278700 30847515 False 3 0;100;0 1.214 False ENSG00000136936 ENSG00000136936 HGNC:12814 XPC gene XPC Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group C, 278720 30847515 False 3 0;100;0 1.214 False ENSG00000154767 ENSG00000154767 HGNC:12816 XPR1 gene XPR1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Basal ganglia calcification, idiopathic, 6, 616413 30847515 False 3 0;100;0 1.214 False ENSG00000143324 ENSG00000143324 HGNC:12827 XRCC4 gene XRCC4 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Short stature, microcephaly, and endocrine dysfunction, 616541 30847515 False 3 0;100;0 1.214 False ENSG00000152422 ENSG00000152422 HGNC:12831 XYLT1 gene XYLT1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Desbuquois dysplasia 2, OMIM:615777;Desbuquois dysplasia 2, MONDO:0014343 23982343;24581741;22711505;30554721 False 3 0;100;0 1.214 False ENSG00000103489 ENSG00000103489 HGNC:15516 XYLT2 gene XYLT2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Spondyloocular syndrome, 605822 30847515 False 3 0;100;0 1.214 False ENSG00000015532 ENSG00000015532 HGNC:15517 YARS2 gene YARS2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 30847515 False 3 0;100;0 1.214 False ENSG00000139131 ENSG00000139131 HGNC:24249 YWHAG gene YWHAG Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 56, 617665 30847515 False 3 0;100;0 1.214 False ENSG00000170027 ENSG00000170027 HGNC:12852 YY1 gene YY1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Gabriele-de Vries syndrome, 617557 30847515 False 3 0;100;0 1.214 False ENSG00000100811 ENSG00000100811 HGNC:12856 ZAP70 gene ZAP70 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Autoimmune disease, multisystem, infantile-onset, 2, 617006;Immunodeficiency 48, 269840 30847515 False 3 0;100;0 1.214 False ENSG00000115085 ENSG00000115085 HGNC:12858 ZBTB18 gene ZBTB18 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 22, 612337 30847515 False 3 0;100;0 1.214 False ENSG00000179456 ENSG00000179456 HGNC:13030 ZBTB20 gene ZBTB20 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Primrose syndrome, 259050 30847515 False 3 0;100;0 1.214 False ENSG00000181722 ENSG00000181722 HGNC:13503 ZBTB24 gene ZBTB24 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency-centromeric instability-facial anomalies syndrome 2, 614069 30847515 False 3 0;100;0 1.214 False ENSG00000112365 ENSG00000112365 HGNC:21143 ZC4H2 gene ZC4H2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Wieacker-Wolff syndrome, 314580 30847515 False 3 0;100;0 1.214 False ENSG00000126970 ENSG00000126970 HGNC:24931 ZDHHC9 gene ZDHHC9 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked syndromic, Raymond type, 300799 30847515 False 3 0;100;0 1.214 False ENSG00000188706 ENSG00000188706 HGNC:18475 ZEB2 gene ZEB2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mowat-Wilson syndrome, 235730 30847515 False 3 0;100;0 1.214 False ENSG00000169554 ENSG00000169554 HGNC:14881 ZFP57 gene ZFP57 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diabetes mellitus, transient neonatal, 1, 601410 30847515 False 3 0;100;0 1.214 False ENSG00000204644 ENSG00000204644 HGNC:18791 ZFYVE26 gene ZFYVE26 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 15, autosomal recessive, 270700 30847515 False 3 0;100;0 1.214 False ENSG00000072121 ENSG00000072121 HGNC:20761 ZIC1 gene ZIC1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Craniosynostosis 6, 616602 30847515 False 3 0;100;0 1.214 False ENSG00000152977 ENSG00000152977 HGNC:12872 ZIC2 gene ZIC2 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holoprosencephaly 5, 609637 30847515 False 3 0;100;0 1.214 False ENSG00000043355 ENSG00000043355 HGNC:12873 ZIC3 gene ZIC3 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females VACTERL association, X-linked, 314390;Heterotaxy, visceral, 1, X-linked, 306955;Congenital heart defects, nonsyndromic, 1, X-linked, 306955 30847515 False 3 0;100;0 1.214 False ENSG00000156925 ENSG00000156925 HGNC:12874 ZMIZ1 gene ZMIZ1 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies 30847515 False 3 0;100;0 1.214 False ENSG00000108175 ENSG00000108175 HGNC:16493 ZMPSTE24 gene ZMPSTE24 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Mandibuloacral dysplasia with type B lipodystrophy, 608612;Restrictive dermopathy, lethal, 275210 30847515 False 3 0;100;0 1.214 False ENSG00000084073 ENSG00000084073 HGNC:12877 ZMYND11 gene ZMYND11 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 30, 616083 30847515 False 3 0;100;0 1.214 False ENSG00000015171 ENSG00000015171 HGNC:16966 ZNF142 gene ZNF142 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with impaired speech and hyperkinetic movements, 618425 30847515 False 3 0;100;0 1.214 False ENSG00000115568 ENSG00000115568 HGNC:12927 ZNF148 gene ZNF148 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, 617260 30847515 False 3 0;100;0 1.214 False ENSG00000163848 ENSG00000163848 HGNC:12933 ZNF292 gene ZNF292 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual developmental disorder, autosomal dominant 64, OMIM:619188;intellectual developmental disorder, autosomal dominant 64, MONDO:0030934 30847515;31723249 False 3 50;50;0 1.214 False ENSG00000188994 ENSG00000188994 HGNC:18410 ZNF462 gene ZNF462 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Weiss-Kruszka syndrome, 618619 30847515 False 3 0;100;0 1.214 False ENSG00000148143 ENSG00000148143 HGNC:21684 ZNF469 gene ZNF469 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal Brittle cornea syndrome 1, 229200 30847515 False 3 0;100;0 1.214 False ENSG00000225614 ENSG00000225614 HGNC:23216 ZNF711 gene ZNF711 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mental retardation, X-linked 97, 300803 30847515 False 3 0;100;0 1.214 False ENSG00000147180 ENSG00000147180 HGNC:13128 ZSWIM6 gene ZSWIM6 Expert list;Expert Review Green;Next Generation Children Project Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Acromelic frontonasal dysostosis, 603671;Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, 617865 30847515 False 3 0;100;0 1.214 False ENSG00000130449 ENSG00000130449 HGNC:29316 CNBP_CCTG str CNBP Expert Review Green;NHS GMS;Expert list Research panel - Severe Paediatric Disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myotonic dystrophy 2, OMIM:602668;Myotonic dystrophy type 2, MONDO:0011266 False 3 67;0;33 1.214 False ENSG00000169714 ENSG00000169714 HGNC:13164 3 128891420 128891499 129172577 129172656 CCTG 27 75