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 A2ML1 gene A2ML1 Expert Review Red;Literature Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 24939586;25862627;27942422 False 1 0;0;100 30.556 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000166535 ENSG00000166535 HGNC:23336 ABCB11 gene ABCB11 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic 2, 601847;Cholestasis, benign recurrent intrahepatic, 2, 605479 False 1 50;0;50 30.556 False ENSG00000073734 ENSG00000073734 HGNC:42 ABCB6 gene ABCB6 Expert list Childhood onset leukodystrophy Neurology Dyschromatosis universalis hereditaria 3 615402;Microphthalmia, isolated, with coloboma 7 614497;Pseudohyperkalemia, familial, 2, due to red cell leak 609153 29903433 False 1 0;0;100 30.556 False ENSG00000115657 ENSG00000115657 HGNC:47 ABCB7 gene ABCB7 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females ANEMIA, SIDEROBLASTIC, WITH ATAXIA 4045952;11843825 False 1 25;50;25 30.556 False ENSG00000131269 ENSG00000131269 HGNC:48 ABCC6 gene ABCC6 Expert Review Red;Victorian Clinical Genetics Services;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Pseudoxanthoma elasticum, 264800;Pseudoxanthoma elasticum, forme fruste, 177850;Arterial calcification, generalized, of infancy, 2, 614473 False 1 33;33;33 30.556 False ENSG00000091262 ENSG00000091262 HGNC:57 ABCC8 gene ABCC8 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000006071 ENSG00000006071 HGNC:59 ABCG2 gene ABCG2 London North GLH;NHS GMS;Expert Review Red Childhood onset leukodystrophy Neurology Unknown Primary idiopathic gout (Disorders of purine metabolism);[Junior blood group system] 614490;[Uric acid concentration, serum, QTL1] 138900 27604308 False 1 0;0;100 30.556 False ENSG00000118777 ENSG00000118777 HGNC:74 ABCG5 gene ABCG5 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000138075 ENSG00000138075 HGNC:13886 ABHD12 gene ABHD12 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674 False 1 50;0;50 30.556 False ENSG00000100997 ENSG00000100997 HGNC:15868 ACADM gene ACADM Expert Review Red;NHS GMS Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450 False 1 0;0;100 30.556 False ENSG00000117054 ENSG00000117054 HGNC:89 ACADS gene ACADS Expert Review Red;NHS GMS Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 False 1 0;0;100 30.556 False ENSG00000122971 ENSG00000122971 HGNC:90 ACADSB gene ACADSB Expert Review Red;NHS GMS Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal 2-methylbutyrylglycinuria, 610006 False 1 0;0;100 30.556 False ENSG00000196177 ENSG00000196177 HGNC:91 ACADVL gene ACADVL Expert Review Red;NHS GMS Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal VLCAD deficiency, 201475 False 1 0;0;100 30.556 False ENSG00000072778 ENSG00000072778 HGNC:92 ACAN gene ACAN Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spondyloepiphyseal dysplasia, Kimberley type, 608361;Spondyloepimetaphyseal dysplasia, aggrecan type, 612813;Osteochondritis dissecans, short stature, and early-onset osteoarthritis, 165800 False 1 50;0;50 30.556 False ENSG00000157766 ENSG00000157766 HGNC:319 ACAT1 gene ACAT1 Expert Review Red;NHS GMS Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Alpha-methylacetoacetic aciduria, 203750 False 1 0;0;100 30.556 False ENSG00000075239 ENSG00000075239 HGNC:93 ACAT2 gene ACAT2 Expert Review Red;Literature Childhood onset leukodystrophy Neurology Unknown ?ACAT2 deficiency, OMIM:614055;Increased serum lactate and pyruvate;High levels of ketones;Low levels of cytosolic acetoacetyl-CoA thiolase;Hypotonia;Severe developmental delay 33340416;20597;6150136 False 1 0;100;0 30.556 False ENSG00000120437 ENSG00000120437 HGNC:94 ACAT2 gene ACAT2 Expert Review Red;Literature Childhood onset leukodystrophy Neurology Unknown ?ACAT2 deficiency, OMIM:614055;Increased serum lactate and pyruvate;High levels of ketones;Low levels of cytosolic acetoacetyl-CoA thiolase;Hypotonia;Severe developmental delay 33340416;20597;6150136 False 1 0;100;0 30.556 False ENSG00000120437 ENSG00000120437 HGNC:94 ACE2 gene ACE2 Expert Review Red Childhood onset leukodystrophy Neurology Unknown Intellectual disability 26350204 False 1 0;0;100 30.556 False ENSG00000130234 ENSG00000130234 HGNC:13557 ACIN1 gene ACIN1 Expert Review Red Childhood onset leukodystrophy Neurology Unknown Intellectual disability 26350204 False 1 0;0;100 30.556 False ENSG00000100813 ENSG00000100813 HGNC:17066 ACOT9 gene ACOT9 Expert Review Red Childhood onset leukodystrophy Neurology Unknown Intellectual disability 26350204 False 1 0;0;100 30.556 False ENSG00000123130 ENSG00000123130 HGNC:17152 ACOX2 gene ACOX2 Expert Review Red;Literature Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 6 - 617308 27647924;27884763;29287774 False 1 0;0;100 30.556 False ENSG00000168306 ENSG00000168306 HGNC:120 ACSF3 gene ACSF3 Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology Unknown Combined malonic and methylmalonic aciduria, 614265 21841779; 21785126 False 1 0;0;100 30.556 False ENSG00000176715 ENSG00000176715 HGNC:27288 ACSL4 gene ACSL4 Expert Review Red;Literature Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Long-chain fatty acid-CoA ligase 4 deficiency;Mental retardation;Autistic features;Intellectual disability PMID: 33340416 False 1 50;0;50 30.556 False ENSG00000068366 ENSG00000068366 HGNC:3571 ADGRG1 gene ADGRG1 Expert Review Red Childhood onset leukodystrophy Neurology Unknown Cerebral Malformation Disorders False 1 0;0;0 30.556 False ENSG00000205336 ENSG00000205336 HGNC:4512 ADGRG4 gene ADGRG4 Expert Review Red Childhood onset leukodystrophy Neurology Unknown 26350204 False 1 0;0;100 30.556 False ENSG00000156920 ENSG00000156920 HGNC:18992 ADGRG6 gene ADGRG6 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Lethal congenital contracture syndrome 9, 616503 False 1 50;0;50 30.556 False ENSG00000112414 ENSG00000112414 HGNC:13841 ADGRV1 gene ADGRV1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Febrile seizures, familial, 4, 604352; Usher syndrome, type; 2C, 605472; Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472 False 1 50;0;50 30.556 False ENSG00000164199 ENSG00000164199 HGNC:17416 ADRA2B gene ADRA2B Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 24114805; 21937992 False 1 0;0;100 30.556 False ENSG00000222040 ENSG00000274286 HGNC:282 AFG3L2 gene AFG3L2 NHS GMS;Expert Review Red Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Optic atrophy 12, OMIM:618977;Spinocerebellar ataxia 28, OMIM:610246;Spastic ataxia 5, autosomal recessive, OMIM:614487 22022284;25401298 False 1 25;50;25 30.556 False ENSG00000141385 ENSG00000141385 HGNC:315 AFP gene AFP Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000081051 ENSG00000081051 HGNC:317 AGK gene AGK Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Gene2Phenotype confirmed gene with ID HPO False 1 100;0;0 30.556 False ENSG00000006530 ENSG00000006530 HGNC:21869 AGL gene AGL Expert Review Red;Victorian Clinical Genetics Services;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IIIa, 232400; Glycogen storage disease; IIIb, 232400 False 1 50;0;50 30.556 False ENSG00000162688 ENSG00000162688 HGNC:321 AGPAT2 gene AGPAT2 Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Lipodystrophy, congenital generalized, type 1, 608594 False 1 0;0;100 30.556 False ENSG00000169692 ENSG00000169692 HGNC:325 AGT gene AGT Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000135744 ENSG00000135744 HGNC:333 AGTR2 gene AGTR2 Victorian Clinical Genetics Services;Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology Unknown Mental retardation, X-linked 88, 300852;X-LINKED MENTAL RETARDATION 88 23871722 False 1 0;0;100 30.556 False ENSG00000180772 ENSG00000180772 HGNC:338 AK1 gene AK1 Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Hemolytic anemia due to adenylate kinase deficiency, 612631 False 1 0;0;100 30.556 False ENSG00000106992 ENSG00000106992 HGNC:361 AK2 gene AK2 Expert list Childhood onset leukodystrophy Neurology Reticular dysgenesis 267500 29903433;19043417 False 1 0;0;100 30.556 False ENSG00000004455 ENSG00000004455 HGNC:362 AKAP17A gene AKAP17A Expert Review Red Childhood onset leukodystrophy Neurology Unknown 26350204 False 1 0;0;100 30.556 False ENSG00000197976 ENSG00000197976 HGNC:18783 AKAP4 gene AKAP4 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 26350204 False 1 0;0;100 30.556 False ENSG00000147081 ENSG00000147081 HGNC:374 AKAP6 gene AKAP6 Victorian Clinical Genetics Services;Literature Childhood onset leukodystrophy Neurology Unknown Intellectual Disability 28600779 False 1 0;0;100 30.556 False ENSG00000151320 ENSG00000151320 HGNC:376 AKR1C2 gene AKR1C2 Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology Unknown 46XY sex reversal 8 614279 False 1 0;0;100 30.556 False ENSG00000151632 ENSG00000151632 HGNC:385 ALAS2 gene ALAS2 Expert list Childhood onset leukodystrophy Neurology Anemia, sideroblastic, 1, OMIM:300751;Protoporphyria, erythropoietic, X-linked, OMIM:300752 29903433 False 1 0;0;100 30.556 False ENSG00000158578 ENSG00000158578 HGNC:397 ALDH18A1 gene ALDH18A1 Expert list Childhood onset leukodystrophy Neurology Cutis laxa, autosomal dominant 3 616603;Cutis laxa, autosomal recessive, type IIIA 219150;Spastic paraplegia 9A, autosomal dominant 601162;Spastic paraplegia 9B, autosomal recessive 616586 29903433 False 1 0;0;100 30.556 False ENSG00000059573 ENSG00000059573 HGNC:9722 ALDH1A3 gene ALDH1A3 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Microphthalmia, isolated 8 615113 23312594; 11826019 False 1 25;50;25 30.556 False ENSG00000184254 ENSG00000184254 HGNC:409 ALDH1B1 gene ALDH1B1 Expert Review Red Childhood onset leukodystrophy Neurology Unknown No OMIM phenotype;Succinic semialdehyde dehydrogenase deficiency False 1 0;100;0 30.556 False ENSG00000137124 ENSG00000137124 HGNC:407 ALDH1B1 gene ALDH1B1 Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology No OMIM phenotype;Succinic semialdehyde dehydrogenase deficiency False 1 0;100;0 30.556 True ENSG00000137124 ENSG00000137124 HGNC:407 ALDOB gene ALDOB Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Fructose intolerance, 229600 False 1 50;0;50 30.556 False ENSG00000136872 ENSG00000136872 HGNC:417 ALG10 gene ALG10 Expert Review Red;Literature Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Progressive myoclonus epilepsy;CDG 33798445 False 1 0;0;100 30.556 False ENSG00000139133 ENSG00000139133 HGNC:23162 ALG2 gene ALG2 Victorian Clinical Genetics Services;Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal ?Congenital disorder of glycosylation, type Ii 607906; Myasthenic syndrome, congenital, 14, with tubular aggregates 616228 12684507 False 1 0;67;33 30.556 False ENSG00000119523 ENSG00000119523 HGNC:23159 ALS2 gene ALS2 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100;Primary lateral sclerosis, juvenile, OMIM:606353;Spastic paralysis, infantile onset ascending, OMIM:607225 11586297 False 1 20;80;0 30.556 False ENSG00000003393 ENSG00000003393 HGNC:443 ALX1 gene ALX1 Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal ?Frontonasal dysplasia 3 613456 20451171 False 1 25;0;75 30.556 False ENSG00000180318 ENSG00000180318 HGNC:1494 AMPD1 gene AMPD1 London North GLH;NHS GMS;Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Myoadenylate deaminase deficiency (Disorders of purine metabolism);Myopathy due to myoadenylate deaminase deficiency 615511 27604308 False 1 50;0;50 30.556 False ENSG00000116748 ENSG00000116748 HGNC:468 ANKH gene ANKH Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Craniometaphyseal dysplasia, 123000Chondrocalcinosis 2, 118600;CRANIOMETAPHYSEAL DYSPLASIA JACKSON TYPE (CMDJ) 8528213;12297987;9915952;8244341;12297989;13130483;25529582;24896178 False 1 60;0;40 30.556 False ENSG00000154122 ENSG00000154122 HGNC:15492 ANO10 gene ANO10 Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 10 613728 21092923 False 1 25;0;75 30.556 False ENSG00000160746 ENSG00000160746 HGNC:25519 ANO3 gene ANO3 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia 24 615034 False 1 50;0;50 30.556 False ENSG00000134343 ENSG00000134343 HGNC:14004 AOX1 gene AOX1 London North GLH;NHS GMS;Expert Review Red Childhood onset leukodystrophy Neurology Unknown Xanthinuria type II (Disorders of purine metabolism) 27604308 False 1 0;0;100 30.556 False ENSG00000138356 ENSG00000138356 HGNC:553 AP5Z1 gene AP5Z1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 48, autosomal recessive, OMIM:613647 24833714 False 1 50;0;50 30.556 False ENSG00000242802 ENSG00000242802 HGNC:22197 APOO gene APOO Literature Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Developmental delay;Lactic acidosis;Muscle weakness;Hypotonia;Repetitive infections;Cognitive impairment;Autistic behaviour 32439808 False 1 0;0;100 30.556 False ENSG00000184831 ENSG00000184831 HGNC:28727 APTX gene APTX Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920;ATAXIA WITH OCULOMOTOR APRAXIA 1 11586300;11586299;15365154;12196655;15852392;25529582;24896178 False 1 60;20;20 30.556 False ENSG00000137074 ENSG00000137074 HGNC:15984 AQP7 gene AQP7 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000165269 ENSG00000165269 HGNC:640 AR gene AR Victorian Clinical Genetics Services;Expert Review Red Childhood onset leukodystrophy Neurology 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 0 False 1 25;50;25 30.556 False ENSG00000169083 ENSG00000169083 HGNC:644 ARHGAP31 gene ARHGAP31 Expert Review Red Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Adams-Oliver syndrome 1 100300 21565291; 28160419 False 1 0;0;100 30.556 False ENSG00000031081 ENSG00000031081 HGNC:29216 ARHGAP36 gene ARHGAP36 Expert Review Red Childhood onset leukodystrophy Neurology Unknown 26350204 False 1 0;0;100 30.556 False ENSG00000147256 ENSG00000147256 HGNC:26388 ARHGAP6 gene ARHGAP6 Expert Review Red Childhood onset leukodystrophy Neurology Unknown 26350204 False 1 0;0;100 30.556 False ENSG00000047648 ENSG00000047648 HGNC:676 ARHGEF2 gene ARHGEF2 Expert Review Red;Other Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal ?Neurodevelopmental disorder with midbrain and hindbrain malformations, 617523 28453519 False 1 0;0;0 30.556 False ENSG00000116584 ENSG00000116584 HGNC:682 ARHGEF4 gene ARHGEF4 Expert Review Red Childhood onset leukodystrophy Neurology Unknown developmental delay, ADHD, Aspergers' syndrome and other neurobehavioral abnormalities 22543972; 26350204 False 1 0;0;100 30.556 False ENSG00000136002 ENSG00000136002 HGNC:684 ARHGEF6 gene ARHGEF6 Expert Review Red;Victorian Clinical Genetics Services;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 46, OMIM:300436 21989057;20861843;17304053;11017088;26177020;22511880 False 1 50;0;50 30.556 False ENSG00000129675 ENSG00000129675 HGNC:685 ARIH1 gene ARIH1 Expert Review Red Childhood onset leukodystrophy Neurology Unknown 26350204 False 1 0;0;100 30.556 False ENSG00000166233 ENSG00000166233 HGNC:689 ARSF gene ARSF Expert Review Red Childhood onset leukodystrophy Neurology Unknown 26350204 False 1 0;0;100 30.556 False ENSG00000062096 ENSG00000062096 HGNC:721 ARX gene ARX Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 300215;Cerebral Malformation Disorders;Lissencephaly, X-linked 2 False 1 0;0;0 30.556 False ENSG00000004848 ENSG00000004848 HGNC:18060 ASB12 gene ASB12 Expert Review Red Childhood onset leukodystrophy Neurology Unknown 26350204 False 1 0;0;100 30.556 False ENSG00000198881 ENSG00000198881 HGNC:19763 ASCL1 gene ASCL1 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992; 26350204 False 1 0;0;100 30.556 False ENSG00000139352 ENSG00000139352 HGNC:738 ASMT gene ASMT Victorian Clinical Genetics Services;Expert Review Red Childhood onset leukodystrophy Neurology Unknown 26350204 False 1 0;0;100 30.556 False ENSG00000196433 ENSG00000196433 HGNC:750 ASMTL gene ASMTL Expert Review Red Childhood onset leukodystrophy Neurology Unknown 26350204 False 1 0;0;100 30.556 False ENSG00000169093 ENSG00000169093 HGNC:751 ASPH gene ASPH Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000198363 ENSG00000198363 HGNC:757 ATAD2B gene ATAD2B Literature Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal intellectual disability, MONDO:0001071 39313616 False 1 0;0;0 30.556 False ENSG00000119778 ENSG00000119778 HGNC:29230 ATAD3B gene ATAD3B Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology No OMIM phenotype;Influence on AIDS progression False 1 0;100;0 30.556 True ENSG00000160072 ENSG00000160072 HGNC:24007 ATAD3B gene ATAD3B Expert Review Red Childhood onset leukodystrophy Neurology Unknown Influence on AIDS progression;No OMIM phenotype False 1 0;100;0 30.556 False ENSG00000160072 ENSG00000160072 HGNC:24007 ATCAY gene ATCAY Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Ataxia, cerebellar, Cayman type 601238 14556008 False 1 50;0;50 30.556 False ENSG00000167654 ENSG00000167654 HGNC:779 ATL1 gene ATL1 Expert Review Red;Victorian Clinical Genetics Services;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic paraplegia 3A, autosomal dominant, 182600;Hereditary spastic paraplegia;Intellectual disability 21336785;28736820;29180453;29691679;31236401 False 1 33;0;67 30.556 False ENSG00000198513 ENSG00000198513 HGNC:11231 ATM gene ATM Expert Review Red;NHS GMS;Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Ataxia-telangiectasia, OMIM:208900 9443866;22345219;11889466;9450874;8808599;9600235;8968760;7792600;11826028;9781027;9887333;9521587;2491181;8755918 False 1 60;20;20 30.556 False ENSG00000149311 ENSG00000149311 HGNC:795 ATP2A2 gene ATP2A2 Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Darier disease 124200 19250991;20456342;25704118 False 1 0;20;80 30.556 False ENSG00000174437 ENSG00000174437 HGNC:812 ATP2B3 gene ATP2B3 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females ?Spinocerebellar ataxia, X-linked 1 302500 26350204; 10797423; 22912398 False 1 0;0;100 30.556 False ENSG00000067842 ENSG00000067842 HGNC:816 ATP2C2 gene ATP2C2 Literature Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown language impairment, HP:0002463 33864365;28440294 False 1 0;0;100 30.556 False ENSG00000064270 ENSG00000064270 HGNC:29103 ATP5C1 gene ATP5C1 Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology No OMIM phenotype False 1 0;100;0 30.556 True ENSG00000165629 ENSG00000165629 HGNC:833 ATP5C1 gene ATP5C1 Expert Review Red Childhood onset leukodystrophy Neurology Unknown No OMIM phenotype False 1 0;100;0 30.556 False ENSG00000165629 ENSG00000165629 HGNC:833 ATP5F1 gene ATP5F1 Expert Review Red;NHS GMS Childhood onset leukodystrophy Neurology Unknown No OMIM phenotype False 1 0;50;50 30.556 False ENSG00000116459 ENSG00000116459 HGNC:840 ATP5G1 gene ATP5G1 Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology No OMIM phenotype False 1 0;100;0 30.556 True ENSG00000159199 ENSG00000159199 HGNC:841 ATP5G1 gene ATP5G1 Expert Review Red Childhood onset leukodystrophy Neurology Unknown No OMIM phenotype False 1 0;100;0 30.556 False ENSG00000159199 ENSG00000159199 HGNC:841 ATP5G2 gene ATP5G2 Expert Review Red Childhood onset leukodystrophy Neurology Unknown No OMIM phenotype False 1 0;100;0 30.556 False ENSG00000135390 ENSG00000135390 HGNC:842 ATP5G2 gene ATP5G2 Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology No OMIM phenotype False 1 0;100;0 30.556 True ENSG00000135390 ENSG00000135390 HGNC:842 ATP5H gene ATP5H Expert Review Red;NHS GMS Childhood onset leukodystrophy Neurology Unknown No OMIM phenotype False 1 0;50;50 30.556 False ENSG00000167863 ENSG00000167863 HGNC:845 ATP5I gene ATP5I Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology No OMIM phenotype False 1 0;100;0 30.556 True ENSG00000169020 ENSG00000169020 HGNC:846 ATP5I gene ATP5I Expert Review Red Childhood onset leukodystrophy Neurology Unknown No OMIM phenotype False 1 0;100;0 30.556 False ENSG00000169020 ENSG00000169020 HGNC:846 ATP5J gene ATP5J Expert Review Red Childhood onset leukodystrophy Neurology Unknown No OMIM phenotype False 1 0;100;0 30.556 False ENSG00000154723 ENSG00000154723 HGNC:847 ATP5J gene ATP5J Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology No OMIM phenotype False 1 0;100;0 30.556 True ENSG00000154723 ENSG00000154723 HGNC:847 ATP5J2 gene ATP5J2 Expert Review Red;NHS GMS Childhood onset leukodystrophy Neurology Unknown No OMIM phenotype False 1 0;50;50 30.556 False ENSG00000241468 ENSG00000241468 HGNC:848 ATP5L gene ATP5L Expert Review Red;NHS GMS Childhood onset leukodystrophy Neurology Unknown No OMIM phenotype False 1 0;50;50 30.556 False ENSG00000167283 ENSG00000167283 HGNC:14247 ATP5L2 gene ATP5L2 Expert Review Red;NHS GMS Childhood onset leukodystrophy Neurology Unknown No OMIM phenotype False 1 0;50;50 30.556 False ENSG00000249222 ENSG00000249222 HGNC:13213 ATP6V1B1 gene ATP6V1B1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Renal tubular acidosis with deafness, 267300 False 1 50;0;50 30.556 False ENSG00000116039 ENSG00000116039 HGNC:853 ATP7A gene ATP7A Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Menkes disease, MIM#309400 28495946;28495940 False 1 0;0;0 30.556 False ENSG00000165240 ENSG00000165240 HGNC:869 ATP7B gene ATP7B Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Wilson disease 277900 False 1 50;0;50 30.556 False ENSG00000123191 ENSG00000123191 HGNC:870 ATP8B1 gene ATP8B1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic 1, 211600; Cholestasis, benign recurrent intrahepatic, 243300; Cholestasis, intrahepatic, of pregnancy, 1, 147480 False 1 33;0;67 30.556 False ENSG00000081923 ENSG00000081923 HGNC:3706 ATPAF1 gene ATPAF1 Expert Review Red;NHS GMS Childhood onset leukodystrophy Neurology Unknown No OMIM phenotype False 1 0;50;50 30.556 False ENSG00000123472 ENSG00000123472 HGNC:18803 ATXN1 gene ATXN1 Expert Review Red;Literature Childhood onset leukodystrophy Neurology Other Spinocerebellar ataxia 1, OMIM:164400 11973625; 11455183; 24896178 False 1 50;0;50 30.556 False ENSG00000124788 ENSG00000124788 HGNC:10548 ATXN10 gene ATXN10 Expert Review Red;Literature Childhood onset leukodystrophy Neurology Other Spinocerebellar ataxia 10, OMIM:603516 17420323; 17620556 False 1 50;0;50 30.556 False ENSG00000130638 ENSG00000130638 HGNC:10549 ATXN2 gene ATXN2 Expert Review Red;Literature Childhood onset leukodystrophy Neurology Other Spinocerebellar ataxia 2, OMIM:183090;{Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090;{Parkinson disease, late-onset, susceptibility to}, OMIM:168600 False 1 50;0;50 30.556 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000204842 ENSG00000204842 HGNC:10555 ATXN3 gene ATXN3 Expert Review Red;Literature Childhood onset leukodystrophy Neurology Other Machado-Joseph disease, OMIM:109150 False 1 50;0;50 30.556 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000066427 ENSG00000066427 HGNC:7106 ATXN3L gene ATXN3L Expert Review Red Childhood onset leukodystrophy Neurology Unknown 26350204; 26648445 False 1 0;0;100 30.556 False ENSG00000123594 ENSG00000123594 HGNC:24173 ATXN7 gene ATXN7 Expert Review Red;Other Childhood onset leukodystrophy Neurology Other Spinocerebellar ataxia 7, OMIM:164500 9288099 False 1 50;0;50 30.556 False ENSG00000163635 ENSG00000163635 HGNC:10560 ATXN7 gene ATXN7 London North GLH;NHS GMS;Expert Review Red Childhood onset leukodystrophy Neurology Other Spinocerebellar ataxia 7, OMIM:164500;Mitochondrial respiratory chain disorders (caused by nuclear variants only) 27604308 False 1 0;0;100 30.556 False ENSG00000163635 ENSG00000163635 HGNC:10560 AVP gene AVP Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000101200 ENSG00000101200 HGNC:894 AVPR2 gene AVPR2 Victorian Clinical Genetics Services;Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females 26350204; 1356229 False 1 0;0;100 30.556 False ENSG00000126895 ENSG00000126895 HGNC:897 AWAT2 gene AWAT2 Expert Review Red Childhood onset leukodystrophy Neurology Unknown 26350204; 27443954 False 1 0;0;100 30.556 False ENSG00000147160 ENSG00000147160 HGNC:23251 BCAT1 gene BCAT1 London North GLH;NHS GMS;Expert Review Red Childhood onset leukodystrophy Neurology Unknown Branched-chain amino acid transferase (Disorder of branched-chain amino acid metabolism not classified as organic aciduria) 27604308 False 1 0;0;100 30.556 False ENSG00000060982 ENSG00000060982 HGNC:976 BDH1 gene BDH1 Expert list Childhood onset leukodystrophy Neurology 29903433;29501613;21285140 False 1 0;0;100 30.556 False ENSG00000161267 ENSG00000161267 HGNC:1027 BDP1 gene BDP1 Expert Review Red Childhood onset leukodystrophy Neurology Unknown 26350204; 24312468; 25060281 False 1 0;0;100 30.556 False ENSG00000145734 ENSG00000145734 HGNC:13652 BEAN1 gene BEAN1 Expert Review Red;Literature Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 31 117210 19878914 False 1 50;0;50 30.556 False ENSG00000166546 ENSG00000166546 HGNC:24160 BFSP2 gene BFSP2 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cataract 12, multiple types, 611597 False 1 50;0;50 30.556 False ENSG00000170819 ENSG00000170819 HGNC:1041 BGN gene BGN Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females X-Linked Spondyloepimetaphyseal Dysplasia; Severe syndromic form of thoracic aortic aneurysm & dissection False 1 50;0;50 30.556 False ENSG00000182492 ENSG00000182492 HGNC:1044 BHLHA9 gene BHLHA9 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Syndactyly, mesoaxial synostotic, with phalangeal reduction, 609432 False 1 50;0;50 30.556 False ENSG00000205899 ENSG00000205899 HGNC:35126 BICD2 gene BICD2 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 False 1 50;0;50 30.556 False Other - please provide details in the comments ENSG00000185963 ENSG00000185963 HGNC:17208 BIN1 gene BIN1 Victorian Clinical Genetics Services;Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Gene2Phenotype confirmed gene with ID HPO False 1 100;0;0 30.556 False ENSG00000136717 ENSG00000136717 HGNC:1052 BMP15 gene BMP15 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Ovarian dysgenesis 2 300510; Premature ovarian failure 4 300510 26350204 False 1 0;0;100 30.556 False ENSG00000130385 ENSG00000130385 HGNC:1068 BMPER gene BMPER Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Gene2Phenotype confirmed gene with ID HPO False 1 50;0;50 30.556 False ENSG00000164619 ENSG00000164619 HGNC:24154 BMPR1B gene BMPR1B Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Acromesomelic dysplasia, Demirhan type, OMIM:609441;Brachydactyly, type A1, D, OMIM:616849;Brachydactyly, type A2, OMIM:112600 False 1 50;0;50 30.556 False ENSG00000138696 ENSG00000138696 HGNC:1077 BOLA1 gene BOLA1 Expert Review Red Childhood onset leukodystrophy Neurology Unknown No OMIM phenotype False 1 0;100;0 30.556 False ENSG00000178096 ENSG00000178096 HGNC:24263 BOLA1 gene BOLA1 Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology No OMIM phenotype False 1 0;100;0 30.556 True ENSG00000178096 ENSG00000178096 HGNC:24263 BOLA2 gene BOLA2 Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology No OMIM phenotype False 1 0;100;0 30.556 True ENSG00000183336 ENSG00000183336 HGNC:29488 BOLA2 gene BOLA2 Expert Review Red Childhood onset leukodystrophy Neurology Unknown No OMIM phenotype False 1 0;100;0 30.556 False ENSG00000183336 ENSG00000183336 HGNC:29488 BPIFB6 gene BPIFB6 Expert Review Red Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BACTERICIDAL PERMEABILITY-INCREASING PROTEIN-LIKE 3 26962226 False 1 0;0;100 30.556 False ENSG00000167104 ENSG00000167104 HGNC:16504 BRCA1 gene BRCA1 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal {Breast-ovarian cancer, familial, 1} 604370 autosomal dominant; {Pancreatic cancer, susceptibility to, 4} 614320 autosomal dominant; intellectual disability recessive 23269703; 25472942; 12624153 False 1 75;0;25 30.556 False ENSG00000012048 ENSG00000012048 HGNC:1100 BRCA2 gene BRCA2 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group D1, OMIM:605724 False 1 50;0;50 30.556 False ENSG00000139618 ENSG00000139618 HGNC:1101 BRIP1 gene BRIP1 Victorian Clinical Genetics Services;Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group J, OMIM:609054 False 1 100;0;0 30.556 False ENSG00000136492 ENSG00000136492 HGNC:20473 BTK gene BTK Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Agammaglobulinemia and isolated hormone deficiency 307200; Agammaglobulinemia, X-linked 1 300755 26350204 False 1 0;0;100 30.556 False ENSG00000010671 ENSG00000010671 HGNC:1133 C19orf12 gene C19orf12 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal ?Spastic paraplegia 43, autosomal recessive 615043; Neurodegeneration with brain iron accumulation 4 614298 22584950; 21981780; 26187298 False 1 33;33;33 30.556 False ENSG00000131943 ENSG00000131943 HGNC:25443 C19orf12 gene C19orf12 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with brain iron accumulation 4, 614298;Mitochondrial Membrane Protein-Associated Neurodegeneration False 1 25;0;75 30.556 True ENSG00000131943 ENSG00000131943 HGNC:25443 C1GALT1C1 gene C1GALT1C1 London North GLH;NHS GMS;Expert Review Red Childhood onset leukodystrophy Neurology Other - please specify in evaluation comments COSMC-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies);Tn polyagglutination syndrome, somatic;Tn polyagglutination syndrome, somatic 300622 27604308;19778426;27536663 False 1 0;0;0 30.556 False ENSG00000171155 ENSG00000171155 HGNC:24338 C1QA gene C1QA Literature Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal C1q deficiency 1, OMIM:613652 39196411 False 1 0;0;100 30.556 False ENSG00000173372 ENSG00000173372 HGNC:1241 C1QC gene C1QC Literature Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal C1q deficiency 3, OMIM:620322 39196411 False 1 0;0;100 30.556 False ENSG00000159189 ENSG00000159189 HGNC:1245 C20orf24 gene C20orf24 Expert Review Red;Literature Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal ?Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2, OMIM:616994 35614220 False 1 0;0;0 30.556 False ENSG00000101084 ENSG00000101084 HGNC:15870 C2orf71 gene C2orf71 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 54, 613428 False 1 100;0;0 30.556 False ENSG00000179270 ENSG00000179270 HGNC:34383 C3orf58 gene C3orf58 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000181744 ENSG00000181744 HGNC:28490 C4orf26 gene C4orf26 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Amelogenesis imperfecta type, IIA4, 614832 False 1 50;0;50 30.556 False ENSG00000174792 ENSG00000174792 HGNC:26300 C9orf72 gene C9orf72 Expert Review Red;Literature Childhood onset leukodystrophy Neurology Other Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550 False 1 50;0;50 30.556 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000147894 ENSG00000147894 HGNC:28337 CA5A gene CA5A Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Hyperammonemia due to carbonic anhydrase VA deficiency, 615751 26913920;25834911;24530203 False 1 0;0;100 30.556 False ENSG00000174990 ENSG00000174990 HGNC:1377 CACNA1F gene CACNA1F Victorian Clinical Genetics Services;Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Aland Island eye disease 300600 XL; Cone-rod dystrophy, X-linked, 3 300476 XLR; Night blindness, congenital stationary (incomplete), 2A, X-linked 300071 26350204 False 1 0;0;100 30.556 False ENSG00000102001 ENSG00000102001 HGNC:1393 CACNA1H gene CACNA1H Victorian Clinical Genetics Services;Expert Review Red Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hyperaldosteronism, familial, type IV 617027; {Epilepsy, childhood absence, susceptibility to, 6} 611942; {Epilepsy, idiopathic generalized, susceptibility to, 6} 611942 0 False 1 0;0;100 30.556 False ENSG00000196557 ENSG00000196557 HGNC:1395 CACNA1S gene CACNA1S Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypokalemic periodic paralysis, type 1, 170400; {Malignant; hyperthermia susceptibility 5}, 601887; {Thyrotoxic periodic paralysis, susceptibility to, 1}, 188580 False 1 50;0;50 30.556 False ENSG00000081248 ENSG00000081248 HGNC:1397 CACNA2D3 gene CACNA2D3 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000157445 ENSG00000157445 HGNC:15460 CACNG2 gene CACNG2 Victorian Clinical Genetics Services;Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Mental retardation, autosomal dominant 10 614256 24896178;26503795; 21376300 False 1 0;0;100 30.556 False ENSG00000166862 ENSG00000166862 HGNC:1406 CAD gene CAD Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal ?Congenital disorder of glycosylation, type Iz 616457 False 1 0;0;0 30.556 False ENSG00000084774 ENSG00000084774 HGNC:1424 CAMLG gene CAMLG Literature Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIz, OMIM:620201 35262690 False 1 0;0;100 30.556 False ENSG00000164615 ENSG00000164615 HGNC:1471 CANT1 gene CANT1 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000171302 ENSG00000171302 HGNC:19721 CAP1 gene CAP1 Expert Review Red Childhood onset leukodystrophy Neurology Unknown 26350204; 24896178 False 1 0;0;100 30.556 False ENSG00000131236 ENSG00000131236 HGNC:20040 CAPN10 gene CAPN10 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal {Diabetes mellitus, noninsulin-dependent 1} 601283 26350204; 21937992 False 1 0;0;100 30.556 False ENSG00000142330 ENSG00000142330 HGNC:1477 CCDC103 gene CCDC103 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 17, 614679 False 1 50;0;50 30.556 False ENSG00000167131 ENSG00000167131 HGNC:32700 CCDC114 gene CCDC114 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 20, 615067 False 1 50;0;50 30.556 False ENSG00000105479 ENSG00000105479 HGNC:26560 CCDC115 gene CCDC115 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iio 616828 26833332 False 1 50;0;50 30.556 False ENSG00000136710 ENSG00000136710 HGNC:28178 CCDC174 gene CCDC174 Expert Review Red;Literature Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Hypotonia, infantile, with psychomotor retardation - IHPMR, 616816 26358778 False 1 0;100;0 30.556 False Other ENSG00000154781 ENSG00000154781 HGNC:28033 CCDC39 gene CCDC39 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal CILIARY DYSKINESIA, PRIMARY, 14 24896178 False 1 25;50;25 30.556 False ENSG00000145075 ENSG00000145075 HGNC:25244 CCDC40 gene CCDC40 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 15, 613808 False 1 50;0;50 30.556 False ENSG00000141519 ENSG00000141519 HGNC:26090 CCDC65 gene CCDC65 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 27, 615504 False 1 50;0;50 30.556 False ENSG00000139537 ENSG00000139537 HGNC:29937 CCDC78 gene CCDC78 Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Centronuclear myopathy 4 614807 26503795; 24896178; 22818856 False 1 0;0;100 30.556 False ENSG00000162004 ENSG00000162004 HGNC:14153 CCDC8 gene CCDC8 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal 3-M syndrome, 614205;3M syndrome;Three M syndrome 3 21737058;11665997;16531729;22624670;28969986;28675896 False 1 0;75;25 30.556 False ENSG00000169515 ENSG00000169515 HGNC:25367 CCNA2 gene CCNA2 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Autosomal recessive mental retardation 21937992; 26350204; 21937992 False 1 0;0;100 30.556 False ENSG00000145386 ENSG00000145386 HGNC:1578 CCNB3 gene CCNB3 Expert Review Red Childhood onset leukodystrophy Neurology Unknown 26350204 False 1 0;0;100 30.556 False ENSG00000147082 ENSG00000147082 HGNC:18709 CCNO gene CCNO Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Ciliary diskinesia, primary, 29, 615872 False 1 50;0;50 30.556 False ENSG00000152669 ENSG00000152669 HGNC:18576 CCT5 gene CCT5 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal autosomal recessive mutilating sensory neuropathy with spastic paraplegia 16399879;25124038;39480921 False 1 25;25;50 30.556 False ENSG00000150753 ENSG00000150753 HGNC:1618 CCT7 gene CCT7 Literature Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CCT7-related neurodevelopmental disorder with brain abnormalities 39480921 False 1 0;0;100 30.556 False ENSG00000135624 ENSG00000135624 HGNC:1622 CD99 gene CD99 Expert Review Red Childhood onset leukodystrophy Neurology Unknown 26350204 False 1 0;0;100 30.556 False ENSG00000002586 ENSG00000002586 HGNC:7082 CDC40 gene CDC40 Expert Review Red;Literature Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal CDC40-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly 33220177 False 1 0;0;100 30.556 False ENSG00000168438 ENSG00000168438 HGNC:17350 CDC45 gene CDC45 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 7 617063 27374770 False 1 50;0;50 30.556 False ENSG00000093009 ENSG00000093009 HGNC:1739 CDH15 gene CDH15 Expert Review Red;Victorian Clinical Genetics Services;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 3, OMIM:612580 19012874;12052883;28422132;26506440 False 1 60;0;40 30.556 False ENSG00000129910 ENSG00000129910 HGNC:1754 CDH23 gene CDH23 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 1D, 601067;Deafness, autosomal recessive; 12, 601386;Usher syndrome, type 1D/F digenic, 601067 False 1 50;0;50 30.556 False ENSG00000107736 ENSG00000107736 HGNC:13733 CDH3 gene CDH3 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Hypotrichosis, congenital, with juvenile macular dystrophy, 601553;Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 False 1 50;0;50 30.556 False ENSG00000062038 ENSG00000062038 HGNC:1762 CDK5R1 gene CDK5R1 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000176749 ENSG00000176749 HGNC:1775 CDT1 gene CDT1 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 4, OMIM:613804 11992493;21358632 False 1 25;50;25 30.556 False ENSG00000167513 ENSG00000167513 HGNC:24576 CEP89 gene CEP89 Expert Review Red;Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal isolated complex IV deficiency, intellectual disability and multisystemic problems PMID: 23575228 False 1 50;0;50 30.556 False ENSG00000121289 ENSG00000121289 HGNC:25907 CEP89 gene CEP89 Expert Review Red;Victorian Clinical Genetics Services;Expert list Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal isolated complex IV deficiency, intellectual disability and multisystemic problems 23575228 False 1 100;0;0 30.556 True ENSG00000121289 ENSG00000121289 HGNC:25907 CETP gene CETP London North GLH;NHS GMS;Expert Review Red Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted [High density lipoprotein cholesterol level QTL 10] 143470;Familial hyperalphalipoproteinaemia (Disorders of high density lipoprotein metabolism);Hyperalphalipoproteinemia 143470 27604308 False 1 0;0;100 30.556 False ENSG00000087237 ENSG00000087237 HGNC:1869 CFAP47 gene CFAP47 Expert Review Red Childhood onset leukodystrophy Neurology Unknown False 1 0;0;100 30.556 False ENSG00000165164 ENSG00000165164 HGNC:26708 CFP gene CFP Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Properdin deficiency, X-linked 312060 26350204 False 1 0;0;100 30.556 False ENSG00000126759 ENSG00000126759 HGNC:8864 CHKB gene CHKB Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, megaconial type, 602541 26782016 False 1 50;0;50 30.556 False ENSG00000100288 ENSG00000100288 HGNC:1938 CHM gene CHM Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Choroideremia, 303100 False 1 50;0;50 30.556 False ENSG00000188419 ENSG00000188419 HGNC:1940 CHMP3 gene CHMP3 Expert Review Red;Literature Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Complex spastic quadriplegia associated with developmental delay and seizures 35710109 False 1 0;0;0 30.556 False ENSG00000115561 ENSG00000115561 HGNC:29865 CHRDL1 gene CHRDL1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Megalocornea 1, X-linked 309300 False 1 50;0;50 30.556 False ENSG00000101938 ENSG00000101938 HGNC:29861 CHRNA2 gene CHRNA2 Expert Review Red Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy, nocturnal frontal lobe, type 4 610353 16826524 False 1 25;0;75 30.556 False ENSG00000120903 ENSG00000120903 HGNC:1956 CHRNA4 gene CHRNA4 Victorian Clinical Genetics Services;Expert Review Red Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy, nocturnal frontal lobe, 1 600513 AD; {Nicotine addiction, susceptibility to} 188890 20805988;14623738 False 1 25;50;25 30.556 False ENSG00000101204 ENSG00000101204 HGNC:1958 CHRNB2 gene CHRNB2 Expert Review Red Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy, nocturnal frontal lobe, 3 605375 23032131; 11094099 False 1 25;50;25 30.556 False ENSG00000160716 ENSG00000160716 HGNC:1962 CHRNG gene CHRNG Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Myasthenia gravis, neonatal transient; Escobar syndrome, 265000; Multiple pterygium syndrome, lethal type, 253290 False 1 50;0;50 30.556 False ENSG00000196811 ENSG00000196811 HGNC:1967 CHST3 gene CHST3 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 False 1 50;0;50 30.556 False ENSG00000122863 ENSG00000122863 HGNC:1971 CHSY1 gene CHSY1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Temtamy preaxial brachydactyly syndrome, 605282 False 1 50;0;50 30.556 False ENSG00000131873 ENSG00000131873 HGNC:17198 CHUK gene CHUK Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Cocoon syndrome, 613630 False 1 50;0;50 30.556 False ENSG00000213341 ENSG00000213341 HGNC:1974 CIB2 gene CIB2 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 48, 609439; Usher syndrome, type IJ, 614869 False 1 50;0;50 30.556 False Other - please provide details in the comments ENSG00000136425 ENSG00000136425 HGNC:24579 CISD2 gene CISD2 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal WOLFRAM SYNDROME TYPE 2 0 False 1 20;40;40 30.556 False ENSG00000145354 ENSG00000145354 HGNC:24212 CISD2 gene CISD2 Expert Review Red;NHS GMS Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Wolfram syndrome 2, 604928 False 1 0;0;100 30.556 False ENSG00000145354 ENSG00000145354 HGNC:24212 CLCN5 gene CLCN5 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Dent disease 308990 False 1 0;0;100 30.556 False ENSG00000171365 ENSG00000171365 HGNC:2023 CLCN6 gene CLCN6 Expert Review Red;Other Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities OMIM:619173 29667327;26658788;25794116;21107136;33217309;16950870 False 1 0;0;100 30.556 False ENSG00000011021 ENSG00000011021 HGNC:2024 CLCN7 gene CLCN7 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 4, OMIM:611490;Osteopetrosis, autosomal dominant 2, OMIM:166600 39994654 False 1 50;0;50 30.556 False ENSG00000103249 ENSG00000103249 HGNC:2025 CLCNKA gene CLCNKA Gene2Phenotype Childhood onset leukodystrophy Neurology Other Bartter syndrome, type 4b, digenic, OMIM:613090;Bartter disease type 4B, MONDO:0000909 15044642;18310267;32488762 False 1 0;0;100 30.556 False ENSG00000186510 ENSG00000186510 HGNC:2026 CLCNKB gene CLCNKB Expert Review Red;Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 3, OMIM:607364;Bartter disease type 3, MONDO:0011822;Bartter syndrome, type 4b, digenic, OMIM:613090;Bartter disease type 4B, MONDO:0000909 15044642;18310267;16391491 False 1 0;0;100 30.556 False ENSG00000184908 ENSG00000184908 HGNC:2027 CLDN19 gene CLDN19 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Hypomagnesemia 5, renal, with ocular involvement, 248190 False 1 50;0;50 30.556 False ENSG00000164007 ENSG00000164007 HGNC:2040 CLIC2 gene CLIC2 Victorian Clinical Genetics Services;Expert Review Red;Expert Review Red;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked syndromic 32, OMIM:300886 22814392;25927380;28333917;31349857 False 1 0;0;100 30.556 False ENSG00000155962 ENSG00000155962 HGNC:2063 CLPP gene CLPP Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000125656 ENSG00000125656 HGNC:2084 CLPS gene CLPS London North GLH;NHS GMS;Expert Review Red Childhood onset leukodystrophy Neurology Unknown Pancreatic colipase deficiency (Other disorders of lipid and lipoprotein metabolism) 27604308 False 1 0;0;100 30.556 False ENSG00000137392 ENSG00000137392 HGNC:2085 CLPX gene CLPX Expert list Childhood onset leukodystrophy Neurology ?Protoporphyria, erythropoietic, 2 618015 29903433;28874591;25957689 False 1 0;0;100 30.556 False ENSG00000166855 ENSG00000166855 HGNC:2088 CMC4 gene CMC4 Expert Review Red;Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 26350204;24896178 False 1 0;0;100 30.556 False ENSG00000182712 ENSG00000182712 HGNC:35428 CMIP gene CMIP Expert Review Red;Other Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted HP:0012759;HP:0000717;HP:0007018;HP:0001250;HP:0011471 22689534;28504353 False 1 50;0;50 30.556 False ENSG00000153815 ENSG00000153815 HGNC:24319 CNDP1 gene CNDP1 London North GLH;NHS GMS;Expert Review Red Childhood onset leukodystrophy Neurology Unknown Carnosinaemia (Other disorders of peptide metabolism) 27604308 False 1 0;0;100 30.556 False ENSG00000150656 ENSG00000150656 HGNC:20675 CNKSR1 gene CNKSR1 Expert Review Red;Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION (G2P) 26350204;21937992 False 1 0;0;100 30.556 False ENSG00000142675 ENSG00000142675 HGNC:19700 CNTN3 gene CNTN3 Victorian Clinical Genetics Services;Literature Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal 28600779 False 1 0;100;0 30.556 False ENSG00000113805 ENSG00000113805 HGNC:2173 CNTN4 gene CNTN4 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000144619 ENSG00000144619 HGNC:2174 COA1 gene COA1 Expert Review Red Childhood onset leukodystrophy Neurology Unknown No OMIM phenotype False 1 0;100;0 30.556 False ENSG00000106603 ENSG00000106603 HGNC:21868 COA1 gene COA1 Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology No OMIM phenotype False 1 0;100;0 30.556 True ENSG00000106603 ENSG00000106603 HGNC:21868 COA3 gene COA3 Expert Review Red;Victorian Clinical Genetics Services;Expert Review;Literature Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Ostergaard et al., 2015, J. Med. Genet., 52, 203-207. False 1 33;33;33 30.556 False ENSG00000183978 ENSG00000183978 HGNC:24990 COA3 gene COA3 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000183978 ENSG00000183978 HGNC:24990 COA4 gene COA4 Expert Review Red;NHS GMS Childhood onset leukodystrophy Neurology Unknown No OMIM phenotype False 1 0;50;50 30.556 False ENSG00000181924 ENSG00000181924 HGNC:24604 COA5 gene COA5 Expert Review Red;Victorian Clinical Genetics Services;Radboud University Medical Center, Nijmegen;Expert list;Expert Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500 21457908 False 1 50;50;0 30.556 True ENSG00000183513 ENSG00000183513 HGNC:33848 COA5 gene COA5 Expert Review Red;London North GLH;NHS GMS;Expert Review Red;Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500 27604308;21457908 False 1 50;50;0 30.556 False ENSG00000183513 ENSG00000183513 HGNC:33848 COA5 gene COA5 Expert Review Red;Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500;MITOCHONDRIAL COMPLEX IV DEFICIENCY 0 False 1 0;0;100 30.556 False ENSG00000183513 ENSG00000183513 HGNC:33848 COG2 gene COG2 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal ?Congenital disorder of glycosylation, type IIq, 617395 11980916;24784932 False 1 0;0;0 30.556 False ENSG00000135775 ENSG00000135775 HGNC:6546 COL10A1 gene COL10A1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Metaphyseal chondrodysplasia, Schmid type, 156500 False 1 50;0;50 30.556 False ENSG00000123500 ENSG00000123500 HGNC:2185 COL11A1 gene COL11A1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Stickler syndrome, type II, 604841;Marshall syndrome, 154780;{Lumbar disc herniation, susceptibility to}, 603932;Fibrochondrogenesis, 228520 False 1 50;0;50 30.556 False ENSG00000060718 ENSG00000060718 HGNC:2186 COL11A2 gene COL11A2 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Gene2Phenotype confirmed gene with ID HPO False 1 100;0;0 30.556 False Other - please provide details in the comments ENSG00000204248 ENSG00000204248 HGNC:2187 COL18A1 gene COL18A1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Knobloch syndrome, type 1, 267750 False 1 50;0;50 30.556 False ENSG00000182871 ENSG00000182871 HGNC:2195 COL1A1 gene COL1A1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Osteogenesis imperfecta, type I, 166200; OI type II, 166210; OI type III, 259420; OI type IV, 166220; Ehlers-Danlos syndrome, type I, 130000; Ehlers-Danlos syndrome, type VIIA, 130060; {Osteoporosis}, 166710; Caffey disease, 114000; [Bone mineral density variation QTL], 166710 False 1 50;0;50 30.556 False Other - please provide details in the comments ENSG00000108821 ENSG00000108821 HGNC:2197 COL1A2 gene COL1A2 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000164692 ENSG00000164692 HGNC:2198 COL25A1 gene COL25A1 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000188517 ENSG00000188517 HGNC:18603 COL2A1 gene COL2A1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Stickler syndrome, type I, 108300; Kniest dysplasia, 156550; Achondrogenesis, type II or hypochondrogenesis, 200610; SED congenita, 183900; SMED Strudwick type, 184250; Epiphyseal dysplasia, multiple, with myopia and deafness, 132450; Spondyloperipheral dysplasia, 271700; SED, Namaqualand type; Osteoarthritis with mild chondrodysplasia, 604864; Vitreoretinopathy with phalangeal epiphyseal dysplasia; Platyspondylic skeletal dysplasia, Torrance type, 151210; Otospondylomegaepiphyseal dysplasia, 215150; Avascular necrosis of the femoral head, 608805; Legg-Calve-Perthes disease, 150600; Stickler sydrome, type I, nonsyndromic ocular, 609508; Czech dysplasia, 609162 False 1 50;0;50 30.556 False Other - please provide details in the comments ENSG00000139219 ENSG00000139219 HGNC:2200 COL4A3 gene COL4A3 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Alport syndrome, autosomal recessive, 203780;Hematuria, benign familial, 141200;Alport syndrome, autosomal dominant, 104200 False 1 50;0;50 30.556 False ENSG00000169031 ENSG00000169031 HGNC:2204 COL4A4 gene COL4A4 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Alport syndrome 2, autosomal recessive, OMIM:203780;Hematuria,familial benign, OMIM:141200 False 1 50;0;50 30.556 False ENSG00000081052 ENSG00000081052 HGNC:2206 COL4A6 gene COL4A6 Expert Review Red;Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) ?Deafness, X-linked 6 300914 26350204 False 1 0;0;100 30.556 False ENSG00000197565 ENSG00000197565 HGNC:2208 COL6A1 gene COL6A1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bethlem myopathy 1, OMIM:158810;Ullrich congenital muscular dystrophy 1, OMIM:254090 False 1 50;0;50 30.556 False ENSG00000142156 ENSG00000142156 HGNC:2211 COL6A3 gene COL6A3 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bethlem myopathy, OMIM:158810;Ullrich congenital muscular dystrophy, OMIM:254090 False 1 100;0;0 30.556 False ENSG00000163359 ENSG00000163359 HGNC:2213 COL9A1 gene COL9A1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Stickler syndrome, type IV, OMIM:614134;Epiphyseal dysplasia, multiple, 6, OMIM:614135 False 1 50;0;50 30.556 False ENSG00000112280 ENSG00000112280 HGNC:2217 COL9A2 gene COL9A2 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Stickler syndrome, type V, OMIM:614284;Epiphyseal dysplasia, multiple, 2, OMIM:600204 False 1 50;0;50 30.556 False ENSG00000049089 ENSG00000049089 HGNC:2218 COL9A3 gene COL9A3 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epiphyseal dysplasia, multiple, 3, with or without myopathy, OMIM:600969 False 1 50;0;50 30.556 False Other - please provide details in the comments ENSG00000092758 ENSG00000092758 HGNC:2219 COLEC10 gene COLEC10 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology 3MC syndrome 3, 248340 28301481 False 1 0;0;100 30.556 False ENSG00000184374 ENSG00000184374 HGNC:2220 COMP gene COMP Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pseudoachondroplasia, 177170;Epiphyseal dysplasia, multiple 1, 132400 False 1 50;0;50 30.556 False ENSG00000105664 ENSG00000105664 HGNC:2227 COQ2 gene COQ2 Expert Review Red;Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 1 607426;{Multiple system atrophy, susceptibility to} 146500 25529582;24896178 False 1 33;0;67 30.556 False ENSG00000173085 ENSG00000173085 HGNC:25223 COX14 gene COX14 Expert Review Red;Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex IV deficiency 220110 22243966 False 1 0;0;100 30.556 False ENSG00000178449 ENSG00000178449 HGNC:28216 COX17 gene COX17 Expert Review Red;NHS GMS Childhood onset leukodystrophy Neurology Unknown No OMIM phenotype False 1 0;50;50 30.556 False ENSG00000138495 ENSG00000138495 HGNC:2264 COX19 gene COX19 Expert Review Red;NHS GMS Childhood onset leukodystrophy Neurology Unknown No OMIM phenotype False 1 0;50;50 30.556 False ENSG00000240230 ENSG00000240230 HGNC:28074 COX4I2 gene COX4I2 Victorian Clinical Genetics Services;Expert Review Red;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen;Expert Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714;Mitochondrial Diseases 19268275;22592081 False 1 50;0;50 30.556 True ENSG00000131055 ENSG00000131055 HGNC:16232 COX5B gene COX5B Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology No OMIM phenotype False 1 0;100;0 30.556 False ENSG00000135940 ENSG00000135940 HGNC:2269 COX5B gene COX5B Expert Review Red Childhood onset leukodystrophy Neurology Unknown No OMIM phenotype False 1 0;100;0 30.556 False ENSG00000135940 ENSG00000135940 HGNC:2269 COX6B1 gene COX6B1 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 7, OMIM:619051 18499082;24781756 False 1 25;50;25 30.556 False ENSG00000126267 ENSG00000126267 HGNC:2280 COX6B2 gene COX6B2 Expert Review Red;NHS GMS Childhood onset leukodystrophy Neurology Unknown No OMIM phenotype False 1 0;50;50 30.556 False ENSG00000160471 ENSG00000160471 HGNC:24380 COX6C gene COX6C Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology No OMIM phenotype False 1 0;100;0 30.556 False ENSG00000164919 ENSG00000164919 HGNC:2285 COX6C gene COX6C Expert Review Red Childhood onset leukodystrophy Neurology Unknown No OMIM phenotype False 1 0;100;0 30.556 False ENSG00000164919 ENSG00000164919 HGNC:2285 COX7A1 gene COX7A1 Expert Review Red Childhood onset leukodystrophy Neurology Unknown No OMIM phenotype False 1 0;100;0 30.556 False ENSG00000161281 ENSG00000161281 HGNC:2287 COX7A1 gene COX7A1 Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology No OMIM phenotype False 1 0;100;0 30.556 False ENSG00000161281 ENSG00000161281 HGNC:2287 COX7A2 gene COX7A2 Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology No OMIM phenotype False 1 0;100;0 30.556 False ENSG00000112695 ENSG00000112695 HGNC:2288 COX7A2 gene COX7A2 Expert Review Red Childhood onset leukodystrophy Neurology Unknown No OMIM phenotype False 1 0;100;0 30.556 False ENSG00000112695 ENSG00000112695 HGNC:2288 COX7B2 gene COX7B2 Expert Review Red Childhood onset leukodystrophy Neurology Unknown ?{Nasopharyngeal carcinoma, susceptibility to}, 607107 False 1 0;100;0 30.556 False ENSG00000170516 ENSG00000170516 HGNC:24381 COX7B2 gene COX7B2 Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology ?{Nasopharyngeal carcinoma, susceptibility to}, 607107 False 1 0;100;0 30.556 False ENSG00000170516 ENSG00000170516 HGNC:24381 COX7C gene COX7C Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology No OMIM phenotype False 1 0;100;0 30.556 False ENSG00000127184 ENSG00000127184 HGNC:2292 COX7C gene COX7C Expert Review Red Childhood onset leukodystrophy Neurology Unknown No OMIM phenotype False 1 0;100;0 30.556 False ENSG00000127184 ENSG00000127184 HGNC:2292 COX8A gene COX8A Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex IV deficiency 220110 PMID: 26685157 False 1 100;0;0 30.556 False ENSG00000176340 ENSG00000176340 HGNC:2294 COX8A gene COX8A Victorian Clinical Genetics Services;Expert Review Red;Expert list Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex IV deficiency 220110 26685157 False 1 100;0;0 30.556 True ENSG00000176340 ENSG00000176340 HGNC:2294 CP gene CP Expert Review Red;Victorian Clinical Genetics Services;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal [Hypoceruloplasminemia, hereditary], 604290; Cerebellar ataxia, 604290; Hemosiderosis, systemic, due to aceruloplasminemia, 604290 False 1 50;0;50 30.556 False ENSG00000047457 ENSG00000047457 HGNC:2295 CPA6 gene CPA6 Expert Review Red;Victorian Clinical Genetics Services;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epilepsy, familial temporal lobe, 5 False 1 50;0;50 30.556 False ENSG00000165078 ENSG00000165078 HGNC:17245 CPD gene CPD Expert Review Red;Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;100 30.556 False ENSG00000108582 ENSG00000108582 HGNC:2301 CPT1A gene CPT1A Expert Review Red;NHS GMS Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal CPT deficiency, hepatic, type IA, 255120 False 1 0;0;100 30.556 False ENSG00000110090 ENSG00000110090 HGNC:2328 CPT2 gene CPT2 Expert Review Red;NHS GMS Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal CPT II deficiency, infantile, OMIM:600649;CPT II deficiency, lethal neonatal, OMIM:608836;CPT II deficiency, myopathic, stress-induced, OMIM:255110 False 1 0;0;100 30.556 False ENSG00000157184 ENSG00000157184 HGNC:2330 CPXCR1 gene CPXCR1 Expert Review Red Childhood onset leukodystrophy Neurology Unknown False 1 0;0;100 30.556 False ENSG00000147183 ENSG00000147183 HGNC:2332 CRB1 gene CRB1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa-12, autosomal recessive, 600105; Leber congenital amaurosis 8, 613835; Pigmented paravenous chorioretinal atrophy, 172870 False 1 100;0;0 30.556 False ENSG00000134376 ENSG00000134376 HGNC:2343 CRLF2 gene CRLF2 Expert Review Red Childhood onset leukodystrophy Neurology Unknown False 1 0;0;100 30.556 False ENSG00000205755 ENSG00000205755 HGNC:14281 CRX gene CRX Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cone-rod retinal dystrophy-2, 120970;Leber congenital; amaurosis 7, 613829 False 1 50;0;50 30.556 False ENSG00000105392 ENSG00000105392 HGNC:2383 CRYAA gene CRYAA Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Cataract 9, multiple types, 604219 False 1 50;0;50 30.556 False ENSG00000160202 ENSG00000160202 HGNC:2388 CRYBA1 gene CRYBA1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cataract 10, multiple types, 600881 False 1 50;0;50 30.556 False ENSG00000108255 ENSG00000108255 HGNC:2394 CRYBA4 gene CRYBA4 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cataract 23 610425 False 1 50;0;50 30.556 False ENSG00000196431 ENSG00000196431 HGNC:2396 CRYBB1 gene CRYBB1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Cataract 17, multiple types, 611544 False 1 50;0;50 30.556 False ENSG00000100122 ENSG00000100122 HGNC:2397 CRYBB2 gene CRYBB2 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cataract 3, multiple types, 601547 False 1 50;0;50 30.556 False ENSG00000244752 ENSG00000244752 HGNC:2398 CRYBB3 gene CRYBB3 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cataract 22, OMIM:609741 False 1 50;0;50 30.556 False ENSG00000100053 ENSG00000100053 HGNC:2400 CRYGC gene CRYGC Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cataract 2, multiple types 604307 False 1 50;0;50 30.556 False ENSG00000163254 ENSG00000163254 HGNC:2410 CRYGD gene CRYGD Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cataract 4, multiple types, 115700 False 1 50;0;50 30.556 False ENSG00000118231 ENSG00000118231 HGNC:2411 CSF1R gene CSF1R Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 False 1 50;0;50 30.556 False ENSG00000182578 ENSG00000182578 HGNC:2433 CSF2RA gene CSF2RA Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Surfactant metabolism dysfunction, pulmonary, 4 300770 False 1 0;0;100 30.556 False ENSG00000198223 ENSG00000198223 HGNC:2435 CTBP1 gene CTBP1 Expert list Childhood onset leukodystrophy Neurology Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome 617915 29903433;27094857;29291004 False 1 0;0;100 30.556 False ENSG00000159692 ENSG00000159692 HGNC:2494 CTGF gene CTGF Other Childhood onset leukodystrophy Neurology Unknown False 1 0;0;0 30.556 False ENSG00000118523 ENSG00000118523 HGNC:2500 CTNS gene CTNS Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Cystinosis, nephropathic, 219800; Cystinosis, ocular; nonnephropathic, 219750; Cystinosis, late-onset juvenile or adolescent nephropathic, 219900; Cystinosis, atypical nephropathic, 219800; False 1 50;0;50 30.556 False ENSG00000040531 ENSG00000040531 HGNC:2518 CTPS2 gene CTPS2 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 26350204 False 1 0;0;100 30.556 False ENSG00000047230 ENSG00000047230 HGNC:2520 CTSF gene CTSF Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ceroid lipofuscinosis, neuronal, 13, Kufs type 23746550 False 1 33;33;33 30.556 False ENSG00000174080 ENSG00000174080 HGNC:2531 CTSK gene CTSK Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Pycnodysostosis, 265800 False 1 50;0;50 30.556 False ENSG00000143387 ENSG00000143387 HGNC:2536 CTTNBP2 gene CTTNBP2 Expert Review Red Childhood onset leukodystrophy Neurology 26350204;11707066 False 1 0;0;100 30.556 False ENSG00000077063 ENSG00000077063 HGNC:15679 CUL7 gene CUL7 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal 3-M syndrome 1 273750 16142236;19225462;17675530 False 1 25;50;25 30.556 False ENSG00000044090 ENSG00000044090 HGNC:21024 CXorf58 gene CXorf58 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females 26350204;19377476 False 1 0;0;100 30.556 False ENSG00000165182 ENSG00000165182 HGNC:26356 CYFIP1 gene CYFIP1 Literature Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal intellectual disability, MONDO:0001071 37704042;39774290 False 1 0;0;100 30.556 False ENSG00000068793 ENSG00000273749 HGNC:13759 CYP1B1 gene CYP1B1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Glaucoma 3A, primary open angle, congenital, juvenile, or adult; onset, 231300;Peters anomaly, 604229 False 1 50;0;50 30.556 False ENSG00000138061 ENSG00000138061 HGNC:2597 CYP24A1 gene CYP24A1 Expert list Childhood onset leukodystrophy Neurology Hypercalcemia, infantile, 1 143880 29903433 False 1 0;0;100 30.556 False ENSG00000019186 ENSG00000019186 HGNC:2602 CYP7A1 gene CYP7A1 London North GLH;NHS GMS;Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Cholesterol 7-alpha-hydroxylase deficiency (Disorders of bile acid biosynthesis);Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency 27604308 False 1 0;0;100 30.556 False ENSG00000167910 ENSG00000167910 HGNC:2651 CYP7B1 gene CYP7B1 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 5A, autosomal recessive , OMIM:270800 False 1 20;20;60 30.556 False ENSG00000172817 ENSG00000172817 HGNC:2652 D2HGDH gene D2HGDH Expert Review Red;NHS GMS Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal D-2-hydroxyglutaric aciduria, 600721 False 1 0;0;100 30.556 False ENSG00000180902 ENSG00000180902 HGNC:28358 DAB1 gene DAB1 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000173406 ENSG00000173406 HGNC:2661 DACT1 gene DACT1 Other;Literature Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Townes-Brocks syndrome 2,617466; TBS2 28054444;22610794;19701191 False 1 0;0;100 30.556 False ENSG00000165617 ENSG00000165617 HGNC:17748 DARS gene DARS Expert Review Red;Expert Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Hypomyelination with brainstem and spinal cord involvement and leg spasticity False 1 25;25;50 30.556 False ENSG00000115866 ENSG00000115866 HGNC:2678 DCHS2 gene DCHS2 Expert Review Red Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown pituitary stalk interruption syndrome, MONDO:0019828 22005931;26126179;26876984;26350204;33108146 False 1 0;0;100 30.556 False ENSG00000197410 ENSG00000197410 HGNC:23111 DCTN1 gene DCTN1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology Other - please specify in evaluation comments Neuropathy, distal hereditary motor, type VIIB, 607641; {Amyotrophic lateral sclerosis, susceptibility to}, 105400; Perry syndrome, 168605 False 1 50;0;50 30.556 False ENSG00000204843 ENSG00000204843 HGNC:2711 DCX gene DCX Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Lissencephaly, X-linked, OMIM:300067;Subcortical laminal heterotopia, X-linked, OMIM:300067 False 1 0;0;0 30.556 False ENSG00000077279 ENSG00000077279 HGNC:2714 DDB1 gene DDB1 Expert Review Red Childhood onset leukodystrophy Neurology Unknown False 1 0;0;0 30.556 False ENSG00000167986 ENSG00000167986 HGNC:2717 DDB2 gene DDB2 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 False 1 50;0;50 30.556 False ENSG00000134574 ENSG00000134574 HGNC:2718 DDHD1 gene DDHD1 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal HEREDITARY SPASTIC PARAPLEGIA 23176821;15786464 False 1 25;50;25 30.556 False ENSG00000100523 ENSG00000100523 HGNC:19714 DDR2 gene DDR2 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Gene2Phenotype confirmed gene with ID HPO False 1 100;0;0 30.556 False ENSG00000162733 ENSG00000162733 HGNC:2731 DDX58 gene DDX58 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;0 30.556 False ENSG00000107201 ENSG00000107201 HGNC:19102 DECR1 gene DECR1 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal 2,4-DIENOYL-COA REDUCTASE DEFICIENCY 24847004 False 1 0;100;0 30.556 False ENSG00000104325 ENSG00000104325 HGNC:2753 DGKH gene DGKH Expert Review Red Childhood onset leukodystrophy Neurology False 1 0;0;100 30.556 False ENSG00000102780 ENSG00000102780 HGNC:2854 DHFR2 gene DHFR2 Expert Review Red Childhood onset leukodystrophy Neurology Unknown 21876184 False 1 0;0;100 30.556 False ENSG00000178700 ENSG00000178700 HGNC:27309 DHODH gene DHODH Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Miller syndrome OMIM: 126064 False 1 50;0;50 30.556 False ENSG00000102967 ENSG00000102967 HGNC:2867 DHTKD1 gene DHTKD1 Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal 2-aminoadipic and 2-oxoadipic aciduria, 204750 False 1 25;25;50 30.556 True ENSG00000181192 ENSG00000181192 HGNC:23537 DIABLO gene DIABLO Expert list Childhood onset leukodystrophy Neurology Deafness, autosomal dominant 64 614152 29903433;23510774 False 1 0;0;100 30.556 False ENSG00000184047 ENSG00000184047 HGNC:21528 DIAPH1 gene DIAPH1 Expert list Childhood onset leukodystrophy Neurology Deafness, autosomal dominant 1 124900;Seizures, cortical blindness, microcephaly syndrome 616632 29903433;27808407;26912466 False 1 0;0;100 30.556 False ENSG00000131504 ENSG00000131504 HGNC:2876 DIAPH2 gene DIAPH2 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 28273668 False 1 0;0;100 30.556 False ENSG00000147202 ENSG00000147202 HGNC:2877 DIP2B gene DIP2B Expert Review Red;Victorian Clinical Genetics Services;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, FRA12A type, 136630;MENTAL RETARDATION, FRA12A TYPE 17236128 False 1 0;25;75 30.556 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000066084 ENSG00000066084 HGNC:29284 DLGAP2 gene DLGAP2 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000198010 ENSG00000198010 HGNC:2906 DLL3 gene DLL3 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis 1, autosomal recessive, 277300 False 1 50;0;50 30.556 False ENSG00000090932 ENSG00000090932 HGNC:2909 DLL4 gene DLL4 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ADAMS-OLIVER SYNDROME 6 False 1 50;0;50 30.556 False ENSG00000128917 ENSG00000128917 HGNC:2910 DLST gene DLST London North GLH;NHS GMS;Expert Review Red Childhood onset leukodystrophy Neurology Unknown No OMIM phenotype?Familial Alzheimer disease 27604308;12805207;1943690 False 1 0;50;50 30.556 False ENSG00000119689 ENSG00000119689 HGNC:2911 DLST gene DLST Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology No OMIM phenotype?Familial Alzheimer disease False 1 0;100;0 30.556 False ENSG00000119689 ENSG00000119689 HGNC:2911 DMGDH gene DMGDH London North GLH;NHS GMS;Expert Review Red Childhood onset leukodystrophy Neurology Unknown Dimethylglycine dehydrogenase deficiency 605850;Dimethylglycinuria (Disorders and variants of enzymes that oxidise xenobiotics other than cytochrome P450) 27604308;18937046 - functional study expressing the variant form in E.coli showed a decrease in activity;11231903 - case study False 1 0;0;100 30.556 False ENSG00000132837 ENSG00000132837 HGNC:24475 DMP1 gene DMP1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Hypophosphatemic rickets, AR, 241520 False 1 50;0;50 30.556 False ENSG00000152592 ENSG00000152592 HGNC:2932 DMPK gene DMPK Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology Other Myotonic dystrophy 1, OMIM:160900 False 1 25;0;75 30.556 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000104936 ENSG00000104936 HGNC:2933 DNA2 gene DNA2 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 8, OMIM:615807 24389050;31045292 False 1 0;0;100 30.556 False ENSG00000138346 ENSG00000138346 HGNC:2939 DNAAF3 gene DNAAF3 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 2, 606763 False 1 50;0;50 30.556 False ENSG00000167646 ENSG00000167646 HGNC:30492 DNAAF4 gene DNAAF4 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal {Dyslexia, susceptibility to, 1}, 127700;Ciliary dyskinesia, primary, 25, 615482 False 1 50;0;50 30.556 False ENSG00000256061 ENSG00000256061 HGNC:21493 DNAH14 gene DNAH14 Expert Review Red;Literature Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal 35438214;26036949;30125339;26636390;32848021 False 1 0;0;100 30.556 False ENSG00000185842 ENSG00000185842 HGNC:2945 DNAJC3 gene DNAJC3 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000102580 ENSG00000102580 HGNC:9439 DNM2 gene DNM2 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot Marie Tooth disease, axonal, type 2M, 606482;Charcot Marie Tooth disease, dominant intermediate B, 606482 False 1 50;0;50 30.556 False ENSG00000079805 ENSG00000079805 HGNC:2974 DNMT1 gene DNMT1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant;Neuropathy, hereditary sensory, type IE False 1 50;0;50 30.556 False ENSG00000130816 ENSG00000130816 HGNC:2976 DOCK11 gene DOCK11 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 26350204 False 1 0;0;100 30.556 False ENSG00000147251 ENSG00000147251 HGNC:23483 DPEP1 gene DPEP1 London North GLH;NHS GMS;Expert Review Red Childhood onset leukodystrophy Neurology Unknown Cysteinylglycinase deficiency (Disorders of the gamma-glutamyl cycle) 27604308 False 1 0;0;100 30.556 False ENSG00000015413 ENSG00000015413 HGNC:3002 DPF1 gene DPF1 Expert Review Red Childhood onset leukodystrophy Neurology 26350204 False 1 0;0;100 30.556 False ENSG00000011332 ENSG00000011332 HGNC:20225 DPF3 gene DPF3 Expert Review Red Childhood onset leukodystrophy Neurology 26350204 False 1 0;0;100 30.556 False ENSG00000205683 ENSG00000205683 HGNC:17427 DPP6 gene DPP6 Expert Review Red;NHS GMS;Other Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 33, OMIM:616311 21943606;23832105;29651237 False 1 33;33;33 30.556 False ENSG00000130226 ENSG00000130226 HGNC:3010 DRD2 gene DRD2 Expert Review Red;Victorian Clinical Genetics Services;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology Unknown Dystonia, myoclonic, 159900 False 1 50;0;50 30.556 False ENSG00000149295 ENSG00000149295 HGNC:3023 DSCAM gene DSCAM Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000171587 ENSG00000171587 HGNC:3039 DSCR3 gene DSCR3 Expert Review Red;Literature Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Intellectual disability, no OMIM # yet 31845315 False 1 0;0;100 30.556 False ENSG00000157538 ENSG00000157538 HGNC:3044 DSPP gene DSPP Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dentinogenesis imperfecta, Shields type II, 125490;Deafness, autosomal dominant 36, with dentinogenesis, 605594;Dentinogenesis imperfecta, Shields type III, 125500;Dentin dysplasia, type II, 125420 False 1 50;0;50 30.556 False ENSG00000152591 ENSG00000152591 HGNC:3054 DST gene DST Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology Neuropathy, hereditary sensory and autonomic, type VI, 614653Epidermolysis bullosa simplex, sutosomal recessive 2, 615425 False 1 0;0;100 30.556 False ENSG00000151914 ENSG00000151914 HGNC:1090 DSTYK gene DSTYK Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Congenital anomalies of kidney and urinary tract, susceptibility; to}, 610805 False 1 50;0;50 30.556 False ENSG00000133059 ENSG00000133059 HGNC:29043 DTD1 gene DTD1 Expert Review Red Childhood onset leukodystrophy Neurology Unknown False 1 0;0;0 30.556 False ENSG00000125821 ENSG00000125821 HGNC:16219 DTD1 gene DTD1 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000125821 ENSG00000125821 HGNC:16219 DVL1 gene DVL1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NA False 1 50;0;50 30.556 False Other - please provide details in the comments ENSG00000107404 ENSG00000107404 HGNC:3084 DVL3 gene DVL3 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown AUTOSOMAL-DOMINANT ROBINOW SYNDROME False 1 100;0;0 30.556 False ENSG00000161202 ENSG00000161202 HGNC:3087 DYM gene DYM Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388 False 1 0;100;0 30.556 False ENSG00000141627 ENSG00000141627 HGNC:21317 DYNC2H1 gene DYNC2H1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091 22589734 False 1 50;0;50 30.556 False ENSG00000187240 ENSG00000187240 HGNC:2962 ECEL1 gene ECEL1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, distal, type 5D, 615065 False 1 50;0;50 30.556 False ENSG00000171551 ENSG00000171551 HGNC:3147 ECSIT gene ECSIT Expert Review Red;Radboud University Medical Center, Nijmegen;Expert list Childhood onset leukodystrophy Neurology Isolated complex I deficiency;No OMIM phenotype False 1 0;100;0 30.556 False ENSG00000130159 ENSG00000130159 HGNC:29548 ECSIT gene ECSIT Expert Review Red;Expert Review Red Childhood onset leukodystrophy Neurology Unknown No OMIM phenotype;Isolated complex I deficiency False 1 0;100;0 30.556 False ENSG00000130159 ENSG00000130159 HGNC:29548 EDA gene EDA Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100;Tooth; agenesis, selective, X-linked 1, 313500 False 1 50;0;50 30.556 False ENSG00000158813 ENSG00000158813 HGNC:3157 EDNRA gene EDNRA Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Migraine, resistance to, 157300 False 1 50;0;50 30.556 False Other - please provide details in the comments ENSG00000151617 ENSG00000151617 HGNC:3179 EDNRB gene EDNRB Expert Review Red Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ABCD syndrome, 600501;ALBINISM, BLACK LOCK, CELL MIGRATION DISORDER OF THE NEUROCYTES OF THE GUT, AND DEAFNESS 7778600;25529582 False 1 20;40;40 30.556 False ENSG00000136160 ENSG00000136160 HGNC:3180 EFHC1 gene EFHC1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology Unknown {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770; {Epilepsy, juvenile absence, susceptibility to, 1}, 607631 28475290 False 1 50;0;50 30.556 False ENSG00000096093 ENSG00000096093 HGNC:16406 EGF gene EGF London North GLH;NHS GMS;Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Hypomagnesaemia type 4, renal (Disorder of magnesium metabolism) 27604308 False 1 0;0;100 30.556 False ENSG00000138798 ENSG00000138798 HGNC:3229 EGR2 gene EGR2 Expert Review Red Childhood onset leukodystrophy Neurology Unknown Neuropathy, congenital hypomyelinating, 1, 605253;Charcot-Marie-Tooth disease,type 1D,607678;Dejerine-Sottas disease,145900 False 1 0;0;0 30.556 False ENSG00000122877 ENSG00000122877 HGNC:3239 EGR2 gene EGR2 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Gene2Phenotype confirmed gene with ID HPO False 1 100;0;0 30.556 False ENSG00000122877 ENSG00000122877 HGNC:3239 EIF2A gene EIF2A Expert Review Red;Expert list Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Intellectual disability;epilepsy 31130284 False 1 0;50;50 30.556 False ENSG00000144895 ENSG00000144895 HGNC:3254 EIF2AK1 gene EIF2AK1 Expert Review Red;Literature Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;white matter abnormalities 32197074 False 1 0;0;100 30.556 False ENSG00000086232 ENSG00000086232 HGNC:24921 EIF4G1 gene EIF4G1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Parkinson disease 18, 614251 26740508 False 1 50;0;50 30.556 False ENSG00000114867 ENSG00000114867 HGNC:3296 ELK1 gene ELK1 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 11186900;26350204;24896178;11944989;16969374 False 1 0;0;100 30.556 False ENSG00000126767 ENSG00000126767 HGNC:3321 ELN gene ELN Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Supravalvar aortic stenosis, 185500;Cutis laxa, AD, 123700 False 1 33;0;67 30.556 False ENSG00000049540 ENSG00000049540 HGNC:3327 ELOVL5 gene ELOVL5 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 38, 615957 False 1 50;0;50 30.556 False ENSG00000012660 ENSG00000012660 HGNC:21308 EN2 gene EN2 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000164778 ENSG00000164778 HGNC:3343 ENOX2 gene ENOX2 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) False 1 0;0;100 30.556 False ENSG00000165675 ENSG00000165675 HGNC:2259 ENPP1 gene ENPP1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal {Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853;{Obesity, susceptibility to}, 601665;Arterial calcification, generalized, of infancy, 1, 208000;Hypophosphatemic rickets, autosomal recessive, 2, 613312;Cole disease, 615522 False 1 50;0;50 30.556 False ENSG00000197594 ENSG00000197594 HGNC:3356 EOGT gene EOGT Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Adams-Oliver syndrome 4, 615297 False 1 50;0;50 30.556 False ENSG00000163378 ENSG00000163378 HGNC:28526 EOMES gene EOMES Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal POLYMICROGYRIA AND CORPUS CALLOSUM AGENESIS 17353897; 28057268 False 1 0;0;100 30.556 False ENSG00000163508 ENSG00000163508 HGNC:3372 EPM2A gene EPM2A Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Myoclonic epilepsy of Lafora 1, OMIM:254780 21376300;39385815 False 1 50;0;50 30.556 False ENSG00000112425 ENSG00000112425 HGNC:3413 EPPK1 gene EPPK1 Expert Review Red Childhood onset leukodystrophy Neurology False 1 0;0;100 30.556 False ENSG00000227184 ENSG00000261150 HGNC:15577 ERAL1 gene ERAL1 Expert Review Red;NHS GMS Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 6, 617565 False 1 0;50;50 30.556 False ENSG00000132591 ENSG00000132591 HGNC:3424 ERCC3 gene ERCC3 Expert Review Red;NHS GMS Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 2, photosensitive, OMIM:616390;Xeroderma pigmentosum, group B, OMIM:610651 9012405;2167179;16947863;8408834;8304337 False 1 0;0;100 30.556 False ENSG00000163161 ENSG00000163161 HGNC:3435 ERCC4 gene ERCC4 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal "Xeroderma pigmentosum, group F 278760;XFE progeroid syndrome, OMIM: 610965" 39769235 False 1 33;0;67 30.556 False ENSG00000175595 ENSG00000175595 HGNC:3436 ERCC6L2 gene ERCC6L2 Expert Review Red Childhood onset leukodystrophy Neurology Unknown False 1 0;0;0 30.556 False ENSG00000182150 ENSG00000182150 HGNC:26922 ERCC6L2 gene ERCC6L2 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000182150 ENSG00000182150 HGNC:26922 ERF gene ERF Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Craniosynostosis 4, 600775 False 1 50;0;50 30.556 False ENSG00000105722 ENSG00000105722 HGNC:3444 ERMARD gene ERMARD Expert Review Red Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 27087860;24736736;24056535 False 1 0;20;80 30.556 False ENSG00000130023 ENSG00000130023 HGNC:21056 ESX1 gene ESX1 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) False 1 0;0;100 30.556 False ENSG00000123576 ENSG00000123576 HGNC:14865 EVC gene EVC Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Gene2Phenotype confirmed gene with ID HPO False 1 50;0;50 30.556 False ENSG00000072840 ENSG00000072840 HGNC:3497 EVC2 gene EVC2 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Ellis-van Creveld syndrome, 225500 False 1 50;0;50 30.556 False ENSG00000173040 ENSG00000173040 HGNC:19747 EXT1 gene EXT1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Gene2Phenotype confirmed gene with ID HPO False 1 100;0;0 30.556 False ENSG00000182197 ENSG00000182197 HGNC:3512 EYA1 gene EYA1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Branchiootorenal syndrome 1, with or without cataracts, 113650; Anterior segment anomalies with or without cataract, 113650; Branchiootic syndrome 1, 602588; ?Otofaciocervical syndrome, 166780 False 1 33;33;33 30.556 False ENSG00000104313 ENSG00000104313 HGNC:3519 F5 gene F5 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000198734 ENSG00000198734 HGNC:3542 FA2H gene FA2H Expert list Childhood onset leukodystrophy Neurology Spastic paraplegia 35, autosomal recessive 612319 29903433 False 1 0;0;100 30.556 False ENSG00000103089 ENSG00000103089 HGNC:21197 FA2H gene FA2H Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 35, autosomal recessive, 612319;spastic paraplegia with ID;cognitive defects;Seizures 24833714;20104589;31135052 False 1 40;20;40 30.556 False ENSG00000103089 ENSG00000103089 HGNC:21197 FAH gene FAH Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal TYROSINEMIA TYPE 1 20301688 False 1 20;60;20 30.556 False ENSG00000103876 ENSG00000103876 HGNC:3579 FAM111A gene FAM111A NHS GMS;Expert Review Red Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted KENNY-CAFFEY SYNDROME (KCS [MIM 127000]) 23684011;23996431;25529582;37023242;34382758 False 1 20;40;40 30.556 False ENSG00000166801 ENSG00000166801 HGNC:24725 FAM111B gene FAM111B Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, 615704 False 1 50;0;50 30.556 False ENSG00000189057 ENSG00000189057 HGNC:24200 FAM160B1 gene FAM160B1 Expert Review Red;Literature Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Central hypotonia;Global developmental delay;Intellectual disability;Abnormality of the face 27431290;31353455 False 1 0;100;0 30.556 False ENSG00000151553 ENSG00000151553 HGNC:29320 FAM161A gene FAM161A Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 28, 606068 False 1 50;0;50 30.556 False ENSG00000170264 ENSG00000170264 HGNC:25808 FAM20A gene FAM20A Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690 False 1 50;0;50 30.556 False ENSG00000108950 ENSG00000108950 HGNC:23015 FAM47B gene FAM47B Expert Review Red;Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) False 1 0;0;100 30.556 False ENSG00000189132 ENSG00000189132 HGNC:26659 FAM58A gene FAM58A Expert Review Red;Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) STAR syndrome 300707 25529582;26350204 False 1 20;60;20 30.556 False ENSG00000147382 ENSG00000262919 HGNC:28434 FANCB gene FANCB Victorian Clinical Genetics Services;Expert Review Red;Expert Review Red;Emory Genetics Laboratory Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome 21910217;16679491 False 1 25;0;75 30.556 False ENSG00000181544 ENSG00000181544 HGNC:3583 FAR1 gene FAR1 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154 25439727;30561787;33239752 False 1 0;0;100 30.556 False ENSG00000197601 ENSG00000197601 HGNC:26222 FASN gene FASN Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 19377476;26350204;21937992 False 1 0;0;100 30.556 False ENSG00000169710 ENSG00000169710 HGNC:3594 FBLN5 gene FBLN5 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000140092 ENSG00000140092 HGNC:3602 FBN1 gene FBN1 Expert Review Red;Victorian Clinical Genetics Services;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Marfan syndrome 154700;MASS syndrome 604308;Weill-Marchesani syndrome 2, dominant 608328;Marfan lipodystrophy syndrome 616914 23506379;20478419; 16596670;24896178 False 1 20;20;60 30.556 False ENSG00000166147 ENSG00000166147 HGNC:3603 FBN2 gene FBN2 Victorian Clinical Genetics Services;Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Gene2Phenotype confirmed gene with ID HPO False 1 100;0;0 30.556 False Other - please provide details in the comments ENSG00000138829 ENSG00000138829 HGNC:3604 FBP1 gene FBP1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Fructose-1,6-bisphosphatase deficiency, 229700 False 1 50;0;50 30.556 False ENSG00000165140 ENSG00000165140 HGNC:3606 FBP2 gene FBP2 Expert Review Red Childhood onset leukodystrophy Neurology Unknown isolated lactic acidosis False 1 0;0;0 30.556 False ENSG00000130957 ENSG00000130957 HGNC:3607 FBP2 gene FBP2 Expert Review Childhood onset leukodystrophy Neurology Unknown isolated lactic acidosis False 1 0;0;0 30.556 False ENSG00000130957 ENSG00000130957 HGNC:3607 FBXO25 gene FBXO25 Expert Review Red;Expert Review Red Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Expression in brain 16278047 False 1 0;0;100 30.556 False ENSG00000147364 ENSG00000147364 HGNC:13596 FBXO7 gene FBXO7 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Parkinson disease 15, autosomal recessive 260300 25085748 False 1 50;0;50 30.556 False ENSG00000100225 ENSG00000100225 HGNC:13586 FBXO8 gene FBXO8 Expert Review Red;Expert Review Red Childhood onset leukodystrophy Neurology moderate developmental delay 24038848 False 1 0;0;100 30.556 False ENSG00000164117 ENSG00000164117 HGNC:13587 FBXW4 gene FBXW4 Expert Review Red Childhood onset leukodystrophy Neurology SPLIT-HAND/FOOT MALFORMATION TYPE 3 27600068;28422522;25449087;23596994;21485001 False 1 0;50;50 30.556 False ENSG00000107829 ENSG00000107829 HGNC:10847 FDXR gene FDXR Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000161513 ENSG00000161513 HGNC:3642 FGD4 gene FGD4 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Charcot Marie Tooth disease, type 4H, 609311 False 1 50;0;50 30.556 False ENSG00000139132 ENSG00000139132 HGNC:19125 FGF10 gene FGF10 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Aplasia of lacrimal and salivary glands, 180920;LADD syndrome, 149730 False 1 50;0;50 30.556 False ENSG00000070193 ENSG00000070193 HGNC:3666 FGF12 gene FGF12 Expert list Childhood onset leukodystrophy Neurology Epileptic encephalopathy, early infantile, 47 617166 29903433;27164707;27872899 False 1 0;0;100 30.556 False ENSG00000114279 ENSG00000114279 HGNC:3668 FGF3 gene FGF3 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Deafness, congenital with inner ear agenesis, microtia, and microdontia, 610706 False 1 50;0;50 30.556 False ENSG00000186895 ENSG00000186895 HGNC:3681 FGFR1 gene FGFR1 Victorian Clinical Genetics Services;Expert Review Red;Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hartsfield syndrome, OMIM:615465;Pfeiffer syndrome, OMIM:101600;Encephalocraniocutaneous lipomatosis, somatic mosaic, OMIM:613001 28825856;23812909 False 1 43;0;57 30.556 False ENSG00000077782 ENSG00000077782 HGNC:3688 FGFR3 gene FGFR3 Victorian Clinical Genetics Services;Expert Review Red;Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal CATSHL syndrome 610474;Hypochondroplasia 146000;SADDAN 616482;Muenke syndrome 602849;Thanatophoric dysplasia, type I 187600 17033969;24864036;3591840;7773297;8858131;7647778;7670477;10360392;10360393;9450868;8841188 False 1 50;0;50 30.556 False ENSG00000068078 ENSG00000068078 HGNC:3690 FHL1 gene FHL1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Scapuloperoneal myopathy, X-linked dominant, 300695; Myopathy, X-linked, with postural muscle atrophy, 300696; Myopathy, reducing body, X-linked, severe early-onset, 300717; Myopathy, reducing body, X-linked, childhood-onset, 300718; Emery-Dreifuss muscular dystrophy 6, X-linked, 300696 False 1 50;0;50 30.556 False ENSG00000022267 ENSG00000022267 HGNC:3702 FKBP14 gene FKBP14 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557 False 1 50;0;50 30.556 False ENSG00000106080 ENSG00000106080 HGNC:18625 FKBP6 gene FKBP6 Expert Review Red;Expert Review Red Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Williams-Beuren syndrome 15770126 False 1 0;0;100 30.556 False ENSG00000077800 ENSG00000077800 HGNC:3722 FKBPL gene FKBPL Expert Review Red;Expert Review Red Childhood onset leukodystrophy Neurology 26350204 False 1 0;0;100 30.556 False ENSG00000204315 ENSG00000204315 HGNC:13949 FLAD1 gene FLAD1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Lipid storage myopathy due to flavin adenine synthetase deficiency 255100 False 1 50;0;50 30.556 False ENSG00000160688 ENSG00000160688 HGNC:24671 FLNA gene FLNA NHS GMS;Expert Review Red;Victorian Clinical Genetics Services;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Heterotopia, periventricular, 1, OMIM:300049;Otopalatodigital syndrome, type II, OMIM:304120;?FG syndrome 2, OMIM:300321 20301392;35414575;25529582;24896178 False 1 50;0;50 30.556 False ENSG00000196924 ENSG00000196924 HGNC:3754 FLNB gene FLNB Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spondylocarpotarsal synostosis syndrome, 272460; Larsen syndrome, 150250; Atelosteogenesis, type I, 108720; Atelosteogenesis, type III, 108721; Boomerang dysplasia, 112310 False 1 50;0;50 30.556 False Other - please provide details in the comments ENSG00000136068 ENSG00000136068 HGNC:3755 FLT4 gene FLT4 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lymphedema, hereditary, IA, 153100;Hemangioma, capillary; infantile, somatic, 602089 False 1 50;0;50 30.556 False Other - please provide details in the comments ENSG00000037280 ENSG00000037280 HGNC:3767 FOLR2 gene FOLR2 Expert Review Red Childhood onset leukodystrophy Neurology Unknown 14711912;19587340 False 1 0;0;100 30.556 False ENSG00000165457 ENSG00000165457 HGNC:3793 FOLR3 gene FOLR3 Expert Review Red Childhood onset leukodystrophy Neurology Unknown 8110752 False 1 0;0;100 30.556 False ENSG00000110203 ENSG00000110203 HGNC:3795 FOXC1 gene FOXC1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Iridogoniodysgenesis, type 1, 601631;Rieger or Axenfeld; anomalies, 602482;Axenfeld-Rieger syndrome, type 3, 602482;Iris hypoplasia and glaucoma, 601631 False 1 50;0;50 30.556 False ENSG00000054598 ENSG00000054598 HGNC:3800 FOXC2 gene FOXC2 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lymphedema-distichiasis syndrome, 153400;Lymphedema-distichiasis; syndrome with renal disease and diabetes mellitus, 153400 False 1 50;0;50 30.556 False ENSG00000176692 ENSG00000176692 HGNC:3801 FOXE1 gene FOXE1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Bamforth-Lazarus syndrome, 241850 False 1 50;0;50 30.556 False Other - please provide details in the comments ENSG00000178919 ENSG00000178919 HGNC:3806 FOXE3 gene FOXE3 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Anterior segment mesenchymal dysgenesis, 107250;Aphakia, congenital primary, 610256 False 1 50;0;50 30.556 False ENSG00000186790 ENSG00000186790 HGNC:3808 FOXF1 gene FOXF1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Alveolar capillary dysplasia with misalignment of pulmonary veins, 265380 False 1 50;0;50 30.556 False ENSG00000103241 ENSG00000103241 HGNC:3809 FOXN1 gene FOXN1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 False 1 50;0;50 30.556 False ENSG00000109101 ENSG00000109101 HGNC:12765 FOXP3 gene FOXP3 Expert Review Red;Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked 304790 17635943;14671208;11137993;11120765;11137992 False 1 25;50;25 30.556 False ENSG00000049768 ENSG00000049768 HGNC:6106 FREM1 gene FREM1 Expert Review Red;Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Bifid nose with or without anorectal and renal anomalies 608980;Manitoba oculotrichoanal syndrome 248450;Trigonocephaly 2 614485 17352387;11332973 False 1 25;50;25 30.556 False ENSG00000164946 ENSG00000164946 HGNC:23399 FRMD7 gene FRMD7 Expert Review Red;Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Nystagmus 1, congenital, X-linked 310700;Nystagmus, infantile periodic alternating, X-linked 310700 17013395;17962394;19072571;16240070;21746984;18087240 False 1 25;50;25 30.556 False ENSG00000165694 ENSG00000165694 HGNC:8079 FTL gene FTL Expert Review Red Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodegeneration with brain iron accumulation 3 606159;Hyperferritinemia-cataract syndrome;L-ferritin deficiency, dominant and recessive False 1 20;60;20 30.556 False ENSG00000087086 ENSG00000087086 HGNC:3999 FUT2 gene FUT2 Literature Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 39350204 False 1 0;0;0 30.556 False ENSG00000176920 ENSG00000176920 HGNC:4013 FXN gene FXN Expert Review Red;Victorian Clinical Genetics Services;Radboud University Medical Center, Nijmegen;Expert Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Friedreich ataxia, OMIM:229300;Friedreich ataxia with retained reflexes, OMIM:229300 10500103;11351132 False 1 75;0;25 30.556 True ENSG00000165060 ENSG00000165060 HGNC:3951 FXN gene FXN Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Friedreich ataxia, OMIM:229300;Friedreich ataxia with retained reflexes, OMIM:229300 False 1 33;33;33 30.556 False ENSG00000165060 ENSG00000165060 HGNC:3951 FXYD2 gene FXYD2 London North GLH;NHS GMS;Expert Review Red Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypomagnesemia 2, renal 154020;Hypomagnesaemia type 2, renal (Disorder of magnesium metabolism) 27604308 False 1 0;0;100 30.556 False ENSG00000137731 ENSG00000137731 HGNC:4026 FYCO1 gene FYCO1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Cataract 18, autosomal recessive, 610019 False 1 50;0;50 30.556 False ENSG00000163820 ENSG00000163820 HGNC:14673 FZD3 gene FZD3 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000104290 ENSG00000104290 HGNC:4041 FZD6 gene FZD6 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Nail disorder, nonsyndromic congenital, 10, (claw-shaped nails), 614157 False 1 50;0;50 30.556 False ENSG00000164930 ENSG00000164930 HGNC:4044 G6PC gene G6PC Expert Review Red;Expert Review Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease Ia, OMIM:232200 False 1 0;0;100 30.556 False ENSG00000131482 ENSG00000131482 HGNC:4056 G6PC3 gene G6PC3 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000141349 ENSG00000141349 HGNC:24861 GAA gene GAA Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease II, 232300 False 1 50;0;50 30.556 False ENSG00000171298 ENSG00000171298 HGNC:4065 GAB3 gene GAB3 Expert Review Red;Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) False 1 0;0;100 30.556 False ENSG00000160219 ENSG00000160219 HGNC:17515 GABRG3 gene GABRG3 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000182256 ENSG00000182256 HGNC:4088 GABRQ gene GABRQ Expert Review Red;Expert Review Red Childhood onset leukodystrophy Neurology Unknown autism spectrum disorder, MONDO:0005258;schizophrenia, MONDO:0005090;migraine disorder, MONDO:0005277 25574603;23169495;20479760;26350204 False 1 0;0;100 30.556 False ENSG00000147402 ENSG00000268089 HGNC:14454 GALK1 gene GALK1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Galactokinase deficiency with cataracts, 230200 False 1 50;0;50 30.556 False ENSG00000108479 ENSG00000108479 HGNC:4118 GALNS gene GALNS Expert Review Red;Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal MUCOPOLYSACCHARIDOSIS TYPE 4A (MPS4A) 0 False 1 50;50;0 30.556 False ENSG00000141012 ENSG00000141012 HGNC:4122 GALNT12 gene GALNT12 London North GLH;NHS GMS;Expert Review Red Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted (GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies));GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies);{Colorectal cancer, susceptibility to, 1} 608812 27604308 False 1 0;0;100 30.556 False ENSG00000119514 ENSG00000119514 HGNC:19877 GAP43 gene GAP43 Literature Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092;intellectual disability, MONDO:0001071 39738362 False 1 0;0;100 30.556 False ENSG00000172020 ENSG00000172020 HGNC:4140 GAS8 gene GAS8 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal PRIMARY CILIARY DYSKINESIA False 1 50;0;50 30.556 False ENSG00000141013 ENSG00000141013 HGNC:4166 GATA2 gene GATA2 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Immunodeficiency 21, 614172;Emberger syndrome, 614038;{Myelodysplastic syndrome, susceptibility to}, 614286;{Leukemia, acute; myeloid, susceptibility to}, 601626 False 1 50;0;50 30.556 False ENSG00000179348 ENSG00000179348 HGNC:4171 GATA4 gene GATA4 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Atrial septal defect 2, 607941;Ventricular septal defect 1, 614429;Atrioventricular septal defect 4, 614430;?Testicular anomalies with or without congenital heart disease, 615542;Tetralogy of; Fallot, 187500 False 1 50;0;50 30.556 False ENSG00000136574 ENSG00000136574 HGNC:4173 GATB gene GATB Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 41, OMIM:618838 False 1 0;0;100 30.556 False ENSG00000059691 ENSG00000059691 HGNC:8849 GATB gene GATB Expert Review Red;Radboud University Medical Center, Nijmegen;Expert list Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 41, OMIM:618838 30283131 False 1 0;0;100 30.556 False ENSG00000059691 ENSG00000059691 HGNC:8849 GATC gene GATC Expert Review Red;Expert list Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 42, OMIM:618839 30283131 False 1 0;50;50 30.556 False ENSG00000257218 ENSG00000257218 HGNC:25068 GATM gene GATM Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Cerebral creatine deficiency syndrome 3, OMIM:612718 False 1 100;0;0 30.556 True ENSG00000171766 ENSG00000171766 HGNC:4175 GBE1 gene GBE1 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000114480 ENSG00000114480 HGNC:4180 GCK gene GCK Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000106633 ENSG00000106633 HGNC:4195 GDAP1 gene GDAP1 Expert Review Red;Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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 False 1 50;0;50 30.556 False ENSG00000104381 ENSG00000104381 HGNC:15968 GDF5 gene GDF5 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Acromesomelic dysplasia, Hunter-Thompson type, 201250;Brachydactyly, type C, 113100;Chondrodysplasia, Grebe type, 200700;Du Pan syndrome, 228900;Brachydactyly, type A2, 112600;Symphalangism, proximal, 1B, 615298;Multiple synostoses syndrome 2, 610017;{Osteoarthritis-5}, 612400;Brachydactyly, type A1, C, 615072 False 1 50;0;50 30.556 False ENSG00000125965 ENSG00000125965 HGNC:4220 GDF6 gene GDF6 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Klippel-Feil syndrome 1, autosomal dominant, 118100;Microphthalmia, isolated 4, 613094;Microphthalmia with coloboma 6, digenic, 613703;Leber congenital amaurosis 17, 615360 False 1 50;0;50 30.556 False ENSG00000156466 ENSG00000156466 HGNC:4221 GGT1 gene GGT1 London North GLH;NHS GMS;Expert Review Red Childhood onset leukodystrophy Neurology Unknown Gamma-glutamyl transpeptidase deficiency;Glutathionuria (Disorders of the gamma-glutamyl cycle) 27604308;24816252 False 1 0;0;100 30.556 False ENSG00000100031 ENSG00000100031 HGNC:4250 GHR gene GHR Expert Review Red;Victorian Clinical Genetics Services;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Laron dwarfism, OMIM:262500;Growth hormone insensitivity, partial, OMIM:604271;Increased responsiveness to growth hormone, OMIM:604271 False 1 50;0;50 30.556 False ENSG00000112964 ENSG00000112964 HGNC:4263 GIGYF2 gene GIGYF2 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000204120 ENSG00000204120 HGNC:11960 GJA1 gene GJA1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Gene2Phenotype confirmed gene with ID HPO False 1 50;0;50 30.556 False ENSG00000152661 ENSG00000152661 HGNC:4274 GJA3 gene GJA3 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cataract 14, multiple types, 601885 False 1 50;0;50 30.556 False ENSG00000121743 ENSG00000121743 HGNC:4277 GJA8 gene GJA8 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cataract 1, multiple types, 116200 False 1 50;0;50 30.556 False ENSG00000121634 ENSG00000121634 HGNC:4281 GJB2 gene GJB2 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Deafness, autosomal recessive 1A, 220290;Deafness, autosomal; dominant 3A, 601544;Vohwinkel syndrome, 124500;Keratoderma, palmoplantar, with deafness, 148350;Keratitis-ichthyosis-deafness; syndrome, 148210;Hystrix-like ichthyosis with deafness, 602540;Bart-Pumphrey syndrome, 149200 False 1 50;0;50 30.556 False ENSG00000165474 ENSG00000165474 HGNC:4284 GLE1 gene GLE1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Lethal congenital contracture syndrome 1, 253310; Arthrogryposis, lethal, with anterior horn cell disease, 611890 False 1 50;0;50 30.556 False Other - please provide details in the comments ENSG00000119392 ENSG00000119392 HGNC:4315 GLMN gene GLMN Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Glomuvenous malformations, 138000 False 1 50;0;50 30.556 False ENSG00000174842 ENSG00000174842 HGNC:14373 GLRA1 gene GLRA1 Victorian Clinical Genetics Services;Literature Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hyperekplexia;developmental delay;infantile spasms and generalized tonic-clonic seizures 29602144;27843043 False 1 0;0;0 30.556 False ENSG00000145888 ENSG00000145888 HGNC:4326 GLUD1 gene GLUD1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Gene2Phenotype confirmed gene with ID HPO False 1 100;0;0 30.556 False Other - please provide details in the comments ENSG00000148672 ENSG00000148672 HGNC:4335 GLUD1 gene GLUD1 Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperinsulinism-hyperammonemia syndrome, 606762 False 1 33;0;67 30.556 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000148672 ENSG00000148672 HGNC:4335 GNAI3 gene GNAI3 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Auriculocondylar syndrome 1, 602483 False 1 50;0;50 30.556 False Other - please provide details in the comments ENSG00000065135 ENSG00000065135 HGNC:4387 GNAL gene GNAL Expert Review Red;Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia 25, 615073 False 1 50;0;50 30.556 False ENSG00000141404 ENSG00000141404 HGNC:4388 GORAB gene GORAB Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Geroderma osteodysplasticum False 1 50;0;50 30.556 False ENSG00000120370 ENSG00000120370 HGNC:25676 GOSR2 gene GOSR2 Expert Review Red;Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 6, 614018 False 1 50;0;50 30.556 False ENSG00000108433 ENSG00000108433 HGNC:4431 GPHN gene GPHN Expert Review Red;Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Molybdenum cofactor deficiency C, OMIM:615501 22040219;26613940;24561070;23393157 False 1 0;33;67 30.556 False ENSG00000171723 ENSG00000171723 HGNC:15465 GPR179 gene GPR179 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Night blindness, congenital stationary (complete), 1E, autosomal; recessive, 614565 False 1 50;0;50 30.556 False ENSG00000188888 ENSG00000277399 HGNC:31371 GPRASP1 gene GPRASP1 Expert Review Red;Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 26995686;24569167 False 1 0;0;100 30.556 False ENSG00000198932 ENSG00000198932 HGNC:24834 GRB14 gene GRB14 Expert Review Red Childhood onset leukodystrophy Neurology 26350204 False 1 0;0;100 30.556 False ENSG00000115290 ENSG00000115290 HGNC:4565 GRHL3 gene GRHL3 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Van der Woude syndrome 2, 606713 False 1 50;0;50 30.556 False ENSG00000158055 ENSG00000158055 HGNC:25839 GRIP1 gene GRIP1 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000155974 ENSG00000155974 HGNC:18708 GRM6 gene GRM6 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Night blindness, congenital stationary (complete), 1B, autosomal; recessive, 257270 False 1 50;0;50 30.556 False ENSG00000113262 ENSG00000113262 HGNC:4598 GRN gene GRN Expert Review Red;Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485; Aphasia, primary progressive, 607485; Ceroid lipofuscinosis, neuronal, 11, 614706 False 1 100;0;0 30.556 False ENSG00000030582 ENSG00000030582 HGNC:4601 GSPT2 gene GSPT2 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females XL INTELLECTUAL DISABILITY 28414775;20655035 False 1 50;25;25 30.556 False ENSG00000189369 ENSG00000189369 HGNC:4622 GTF2E2 gene GTF2E2 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 6, nonphotosensitive, OMIM:616943 26996949 False 1 0;0;0 30.556 False ENSG00000197265 ENSG00000197265 HGNC:4651 GTPBP8 gene GTPBP8 Expert Review Red Childhood onset leukodystrophy Neurology 26350204 False 1 0;0;100 30.556 False ENSG00000163607 ENSG00000163607 HGNC:25007 GUCY2C gene GUCY2C Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Diarrhea 6, 614616;Meconium ileus, 614665 False 1 33;0;67 30.556 False ENSG00000070019 ENSG00000070019 HGNC:4688 GUF1 gene GUF1 Expert list Childhood onset leukodystrophy Neurology ?Epileptic encephalopathy, early infantile, 40 617065 29903433;26486472 False 1 0;0;100 30.556 False ENSG00000151806 ENSG00000151806 HGNC:25799 GYS2 gene GYS2 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000111713 ENSG00000111713 HGNC:4707 HADH gene HADH Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Hyperinsulinemic hypoglycemia, familial, 4, 609975;3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 0 False 1 25;50;25 30.556 False ENSG00000138796 ENSG00000138796 HGNC:4799 HADH gene HADH Expert Review Red;NHS GMS Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530;Hyperinsulinemic hypoglycemia, familial, 4, 609975 False 1 0;0;100 30.556 False ENSG00000138796 ENSG00000138796 HGNC:4799 HADHA gene HADHA Expert Review Red;NHS GMS Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal LCHAD deficiency, 609016;Trifunctional protein deficiency, 609015 False 1 0;0;100 30.556 False ENSG00000084754 ENSG00000084754 HGNC:4801 HAL gene HAL London North GLH;NHS GMS;Expert Review Red Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Histidinaemia (Disorders of histidine, tryptophan or lysine metabolism) 27604308 False 1 0;0;100 30.556 False ENSG00000084110 ENSG00000084110 HGNC:4806 HARS2 gene HARS2 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000112855 ENSG00000112855 HGNC:4817 HAUS7 gene HAUS7 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 26350204 False 1 0;0;100 30.556 False ENSG00000213397 ENSG00000213397 HGNC:32979 HDAC6 gene HDAC6 Expert Review Red;Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology ?Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 300863 16001442;20181727;16900295;27545680 False 1 0;0;100 30.556 False ENSG00000094631 ENSG00000094631 HGNC:14064 HEXA gene HEXA Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal MIM#272800 False 1 0;0;0 30.556 False ENSG00000213614 ENSG00000213614 HGNC:4878 HIST1H4B gene HIST1H4B Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;0;100 30.556 False ENSG00000124529 ENSG00000278705 HGNC:4789 HIST1H4D gene HIST1H4D Expert Review Red;Literature Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global developmental delay;Intellectual disability;Microcephaly;Growth abnormality;Abnormality of the face 35202563 False 1 0;50;50 30.556 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000188987 ENSG00000277157 HGNC:4782 HIST1H4F gene HIST1H4F Expert Review Red;Literature Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global developmental delay;Intellectual disability;Microcephaly;Growth abnormality;Abnormality of the face 35202563 False 1 0;50;50 30.556 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000198327 ENSG00000274618 HGNC:4783 HIST3H3 gene HIST3H3 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;0;100 30.556 False ENSG00000168148 ENSG00000168148 HGNC:4778 HMGB3 gene HMGB3 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Microphthalmia, syndromic 13, 300915; Intellectual disability 24993872;11391653;4998085 False 1 0;0;100 30.556 False ENSG00000029993 ENSG00000029993 HGNC:5004 HMGCL gene HMGCL Expert Review Red;Other Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal HMG-CoA lyase deficiency, 246450;3-Hydroxy-3-methylglutaryl-CoA lyase deficiency;HMGCLD 28583327;8617516;9463337;11129331 False 1 67;0;33 30.556 False ENSG00000117305 ENSG00000117305 HGNC:5005 HMGCS2 gene HMGCS2 Expert Review Red;NHS GMS Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal HMG-CoA synthase-2 deficiency, 605911 False 1 0;0;100 30.556 False ENSG00000134240 ENSG00000134240 HGNC:5008 HMGCS2 gene HMGCS2 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal HMG-CoA synthase-2 deficiency, 605911 False 1 50;0;50 30.556 False Other - please provide details in the comments ENSG00000134240 ENSG00000134240 HGNC:5008 HMGXB4 gene HMGXB4 Literature Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Intellectual disability, developmental delay, and dysmorphic features 39166056 False 1 0;0;0 30.556 False ENSG00000100281 ENSG00000100281 HGNC:5003 HNF4A gene HNF4A Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MODY, type I, 125850; {Diabetes mellitus, noninsulin-dependent}, 125853; Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, 616026 False 1 50;0;50 30.556 False ENSG00000101076 ENSG00000101076 HGNC:5024 HOXA13 gene HOXA13 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hand-foot-uterus syndrome, 140000;Guttmacher syndrome, 176305 False 1 50;0;50 30.556 False ENSG00000106031 ENSG00000106031 HGNC:5102 HOXC13 gene HOXC13 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia 9, hair/nail type, 614931 False 1 50;0;50 30.556 False ENSG00000123364 ENSG00000123364 HGNC:5125 HOXD10 gene HOXD10 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000128710 ENSG00000128710 HGNC:5133 HOXD13 gene HOXD13 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Synpolydactyly, type II, 186000;Brachydactyly, type E, 113300;Brachydactyly, type D, 113200;Synpolydactyly with foot anomalies, 186000;Syndactyly, type V, 186300;Brachydactyly-syndactyly syndrome, 610713;?VACTERL association, 192350 False 1 50;0;50 30.556 False ENSG00000128714 ENSG00000128714 HGNC:5136 HPGD gene HPGD Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Cranioosteoarthropathy, 259100;Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100;Digital clubbing, isolated congenital, 119900 False 1 50;0;50 30.556 False ENSG00000164120 ENSG00000164120 HGNC:5154 HPS1 gene HPS1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 1, 203300 False 1 50;0;50 30.556 False ENSG00000107521 ENSG00000107521 HGNC:5163 HPSE2 gene HPSE2 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Urofacial syndrome 1, 236730 False 1 50;0;50 30.556 False ENSG00000172987 ENSG00000172987 HGNC:18374 HR gene HR Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Alopecia universalis, 203655;Atrichia with papular lesions, 209500;Hypotrichosis 4, 146550 False 1 50;0;50 30.556 False ENSG00000168453 ENSG00000168453 HGNC:5172 HS6ST2 gene HS6ST2 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) False 1 0;0;100 30.556 False ENSG00000171004 ENSG00000171004 HGNC:19133 HSD3B7 gene HSD3B7 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 1, 607765 False 1 50;0;50 30.556 False ENSG00000099377 ENSG00000099377 HGNC:18324 HSF4 gene HSF4 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cataract 5, multiple types, OMIM:116800 False 1 50;0;50 30.556 False ENSG00000102878 ENSG00000102878 HGNC:5227 HSPE1 gene HSPE1 Expert list Childhood onset leukodystrophy Neurology Neurological and Developmental Disorder 29903433;27774450 False 1 0;0;100 30.556 False ENSG00000115541 ENSG00000115541 HGNC:5269 HTRA1 gene HTRA1 Expert Review Red Childhood onset leukodystrophy Neurology Unknown CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY False 1 0;0;0 30.556 False ENSG00000166033 ENSG00000166033 HGNC:9476 HTT gene HTT Expert Review Red;NHS GMS Childhood onset leukodystrophy Neurology Other Huntington disease, OMIM:143100 False 1 0;0;100 30.556 False ENSG00000197386 ENSG00000197386 HGNC:4851 HYAL1 gene HYAL1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IX, 601492 False 1 50;0;50 30.556 False ENSG00000114378 ENSG00000114378 HGNC:5320 HYDIN gene HYDIN Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal CILIARY DYSKINESIA, PRIMARY, 5; CILD5 False 1 50;0;50 30.556 False ENSG00000157423 ENSG00000157423 HGNC:19368 HYKK gene HYKK London North GLH;NHS GMS;Expert Review Red Childhood onset leukodystrophy Neurology Unknown Hydroxylysinuria (Disorders of histidine, tryptophan or lysine metabolism) 27604308 False 1 0;0;100 30.556 False ENSG00000188266 ENSG00000188266 HGNC:34403 HYLS1 gene HYLS1 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal HYDROLETHALUS SYNDROME TYPE 1 (HLS1) 15843405 False 1 20;40;40 30.556 False ENSG00000198331 ENSG00000198331 HGNC:26558 IARS gene IARS Expert list Childhood onset leukodystrophy Neurology False 1 0;100;0 30.556 False ENSG00000196305 ENSG00000196305 HGNC:5330 IARS2 gene IARS2 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, OMIM:616007 25130867;28328135;39169373 False 1 0;0;100 30.556 False ENSG00000067704 ENSG00000067704 HGNC:29685 IDH3B gene IDH3B Expert Review Red Childhood onset leukodystrophy Neurology Unknown False 1 0;100;0 30.556 False ENSG00000101365 ENSG00000101365 HGNC:5385 IER3IP1 gene IER3IP1 Expert Review Red;Other Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Microcephaly, epilepsy, and diabetes syndrome, 614231;MEDS 21835305;22991235;24138066 False 1 50;0;50 30.556 False ENSG00000134049 ENSG00000134049 HGNC:18550 IFITM5 gene IFITM5 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Osteogenesis imperfecta, type V, 610967 False 1 50;0;50 30.556 False ENSG00000206013 ENSG00000206013 HGNC:16644 IFNAR2 gene IFNAR2 Expert Review Red Childhood onset leukodystrophy Neurology False 1 0;0;100 30.556 False ENSG00000159110 ENSG00000159110 HGNC:5433 IFT122 gene IFT122 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia 1, 218330 False 1 50;0;50 30.556 False Other - please provide details in the comments ENSG00000163913 ENSG00000163913 HGNC:13556 IFT140 gene IFT140 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 False 1 50;0;50 30.556 False ENSG00000187535 ENSG00000187535 HGNC:29077 IFT80 gene IFT80 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal NA False 1 50;0;50 30.556 False Other - please provide details in the comments ENSG00000068885 ENSG00000068885 HGNC:29262 IGBP1 gene IGBP1 Victorian Clinical Genetics Services;Expert Review Red;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia 14556245 False 1 0;0;100 30.556 False ENSG00000089289 ENSG00000089289 HGNC:5461 IGF2 gene IGF2 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology Other - please specify in evaluation comments Beckwith-Wiedemann Syndrome; Chromosome 11p15.5-Related Russell-Silver Syndrome False 1 50;0;50 30.556 False Other - please provide details in the comments ENSG00000167244 ENSG00000167244 HGNC:5466 IGHMBP2 gene IGHMBP2 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Neuronopathy, distal hereditary motor, type VI, 604320;Charcot-Marie-Tooth disease, axonal, type 2S, 616155 False 1 50;0;50 30.556 False ENSG00000132740 ENSG00000132740 HGNC:5542 IGSF1 gene IGSF1 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Hypothyroidism, central and testicular enlargement 24326587; 25052774 False 1 25;50;25 30.556 False ENSG00000147255 ENSG00000147255 HGNC:5948 IHH gene IHH Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Acrocapitofemoral dysplasia, OMIM:607778;Brachydactyly, type A1, OMIM:112500 False 1 50;0;50 30.556 False Other - please provide details in the comments ENSG00000163501 ENSG00000163501 HGNC:5956 IL11RA gene IL11RA Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Crouzon-like craniosynostosis; Autosomal Recessive Craniosynostosis False 1 50;0;50 30.556 False ENSG00000137070 ENSG00000137070 HGNC:5967 IL3RA gene IL3RA Expert Review Red Childhood onset leukodystrophy Neurology Unknown False 1 0;0;100 30.556 False ENSG00000185291 ENSG00000185291 HGNC:6012 ILF2 gene ILF2 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000143621 ENSG00000143621 HGNC:6037 IMPAD1 gene IMPAD1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Chondrodysplasia with joint dislocations, GRAPP type, 614078 False 1 50;0;50 30.556 False ENSG00000104331 ENSG00000104331 HGNC:26019 INF2 gene INF2 Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology Glomerulosclerosis, focal segmental, 5, 613237Charcot-Marie-Tooth disease, dominant intermediate E, 614455 24174593 False 1 0;0;100 30.556 False ENSG00000203485 ENSG00000203485 HGNC:23791 INPPL1 gene INPPL1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Opsismodysplasia, 258480 False 1 50;0;50 30.556 False ENSG00000165458 ENSG00000165458 HGNC:6080 INSR gene INSR Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000171105 ENSG00000171105 HGNC:6091 INTS6 gene INTS6 Expert Review Red;Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;100 30.556 False ENSG00000102786 ENSG00000102786 HGNC:14879 INTS6L gene INTS6L Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 28720891;26350204 False 1 0;0;100 30.556 False ENSG00000165359 ENSG00000165359 HGNC:27334 INTS8 gene INTS8 Victorian Clinical Genetics Services;Literature Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal ?Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, OMIM:618572 28542170 False 1 0;100;0 30.556 False ENSG00000164941 ENSG00000164941 HGNC:26048 IQSEC3 gene IQSEC3 Expert Review Red;Expert list Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Intellectual disability 31130284 False 1 0;50;50 30.556 False ENSG00000120645 ENSG00000120645 HGNC:29193 IRAK1 gene IRAK1 Expert Review Red;UKGTN Childhood onset leukodystrophy Neurology Unknown Lubs X-Linked Mental Retardation Syndrome; MRXSL 21934280; 26672597; 20236124;27180140; 28302064 False 1 0;0;100 30.556 False ENSG00000184216 ENSG00000184216 HGNC:6112 IRF6 gene IRF6 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown van der Woude syndrome, 119300;Popliteal pterygium syndrome 1, 119500;Orofacial cleft 6, 608864 False 1 50;0;50 30.556 False ENSG00000117595 ENSG00000117595 HGNC:6121 ITCH gene ITCH Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Autoimmune disease, multisystem, with facial dysmorphism, 613385 20170897 False 1 0;0;100 30.556 False ENSG00000078747 ENSG00000078747 HGNC:13890 ITGA3 gene ITGA3 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Interstitial lung disease, nephrotic syndrome, and epidermolysis;bullosa, congenital, 614748 False 1 50;0;50 30.556 False ENSG00000005884 ENSG00000005884 HGNC:6139 ITGA4 gene ITGA4 Expert Review Red Childhood onset leukodystrophy Neurology Unknown 20552675 False 1 0;0;100 30.556 False ENSG00000115232 ENSG00000115232 HGNC:6140 ITGB6 gene ITGB6 Literature Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Alopecia with mental retardation (APMR); mild-to-moderate intellectual disability, adolescent alopecia and dentogingival abnormalities 26695873 False 1 0;0;0 30.556 False ENSG00000115221 ENSG00000115221 HGNC:6161 ITIH6 gene ITIH6 Expert Review Red Childhood onset leukodystrophy Neurology Unknown 28720891 False 1 0;0;100 30.556 False ENSG00000102313 ENSG00000102313 HGNC:28907 JAG1 gene JAG1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alagille syndrome 1, OMIM:118450 False 1 50;0;50 30.556 False ENSG00000101384 ENSG00000101384 HGNC:6188 JAGN1 gene JAGN1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal NA False 1 50;0;50 30.556 False ENSG00000171135 ENSG00000171135 HGNC:26926 JAK3 gene JAK3 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal SCID, autosomal recessive, T-negative/B-positive type, 600802 False 1 50;0;50 30.556 False ENSG00000105639 ENSG00000105639 HGNC:6193 JPH3 gene JPH3 Expert Review Red;Literature Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092;Paroxysmal dystonia, MONDO:0016058 33824468 False 1 0;0;100 30.556 False ENSG00000154118 ENSG00000154118 HGNC:14203 KANK1 gene KANK1 Expert Review Red Childhood onset leukodystrophy Neurology Other - please specify in evaluation comments CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 2 (CPSQ2) 16301218 False 1 0;0;100 30.556 False ENSG00000107104 ENSG00000107104 HGNC:19309 KATNAL2 gene KATNAL2 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000167216 ENSG00000167216 HGNC:25387 KBTBD13 gene KBTBD13 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Nemaline myopathy 6, autosomal dominant, 609273 False 1 50;0;50 30.556 False Other - please provide details in the comments ENSG00000234438 ENSG00000234438 HGNC:37227 KCND1 gene KCND1 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 38772379 False 1 0;0;100 30.556 False ENSG00000102057 ENSG00000102057 HGNC:6237 KCNE1 gene KCNE1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Jervell and Lange-Nielsen syndrome 2, OMIM:612347;Long QT syndrome 5, OMIM:613695 False 1 50;0;50 30.556 False Other - please provide details in the comments ENSG00000180509 ENSG00000180509 HGNC:6240 KCNJ2 gene KCNJ2 Literature Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Short QT syndrome 3, OMIM:609622 22155372 False 1 0;0;0 30.556 False ENSG00000123700 ENSG00000123700 HGNC:6263 KCNK12 gene KCNK12 Expert Review Red Childhood onset leukodystrophy Neurology Unknown False 1 0;0;100 30.556 False ENSG00000184261 ENSG00000184261 HGNC:6274 KCNQ1 gene KCNQ1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Long QT syndrome 1, 192500;Jervell and Lange-Nielsen syndrome, 220400;Atrial fibrillation, familial, 3, 607554;Short QT syndrome 2, 609621;{Long QT syndrome 1, acquired, susceptibility to}, 192500 False 1 50;0;50 30.556 False ENSG00000053918 ENSG00000053918 HGNC:6294 KCTD1 gene KCTD1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Scalp-ear-nipple syndrome, 181270 False 1 50;0;50 30.556 False Other - please provide details in the comments ENSG00000134504 ENSG00000134504 HGNC:18249 KCTD7 gene KCTD7 Other Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 3, with or without intracellular inclusions OMIM:611726;progressive myoclonic epilepsy type 3 MONDO:0012721 False 1 0;0;100 30.556 False ENSG00000243335 ENSG00000243335 HGNC:21957 KHK gene KHK London North GLH;NHS GMS;Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Essential fructosuria (Disorders of fructose metabolism) 27604308 False 1 0;0;100 30.556 False ENSG00000138030 ENSG00000138030 HGNC:6315 KIF1B gene KIF1B Expert Review Red;Literature Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Hypotonia;coloboma, MONDO:0001476;hypoplasia of the corpus callosum;severe neurodevelopmental delay 33710394 False 1 0;0;100 30.556 False ENSG00000054523 ENSG00000054523 HGNC:16636 KIF1C gene KIF1C Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 2, autosomal recessive, OMIM:611302 False 1 50;0;50 30.556 False ENSG00000129250 ENSG00000129250 HGNC:6317 KIF21A gene KIF21A Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000139116 ENSG00000139116 HGNC:19349 KIF22 gene KIF22 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 False 1 50;0;50 30.556 False Other - please provide details in the comments ENSG00000079616 ENSG00000079616 HGNC:6391 KIF26B gene KIF26B Expert Review Red Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis 29053796 False 1 0;0;100 30.556 False ENSG00000162849 ENSG00000162849 HGNC:25484 KIF5A gene KIF5A Expert list Childhood onset leukodystrophy Neurology Myoclonus, intractable, neonatal 617235;Spastic paraplegia 10, autosomal dominant 604187;{Amyotrophic lateral sclerosis, susceptibility to, 25} 617921 29903433 False 1 0;0;100 30.556 False ENSG00000155980 ENSG00000155980 HGNC:6323 KIRREL3 gene KIRREL3 Expert Review Red;NHS GMS;Victorian Clinical Genetics Services;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted complex neurodevelopmental disorder, MONDO:0100038 19012874;22965935;29271092;32503885;33853164;37605258 False 1 30;10;60 30.556 False ENSG00000149571 ENSG00000149571 HGNC:23204 KIT gene KIT Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Piebaldism, 172800;Gastrointestinal stromal tumor, familial, 606764;Mast cell disease, 154800;Leukemia, acute myeloid, 601626;Germ cell tumors, 273300 False 1 50;0;50 30.556 False ENSG00000157404 ENSG00000157404 HGNC:6342 KLF1 gene KLF1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Blood group--Lutheran inhibitor, 111150;[Hereditary; persistence of fetal hemoglobin], 613566;Dyserythropoietic anemia, congenital, type IV, 613673 False 1 50;0;50 30.556 False ENSG00000105610 ENSG00000105610 HGNC:6345 KLF8 gene KLF8 Expert Review Red;Emory Genetics Laboratory Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability 11836360 False 1 0;0;100 30.556 False ENSG00000102349 ENSG00000102349 HGNC:6351 KLHL21 gene KLHL21 Expert Review Red Childhood onset leukodystrophy Neurology 20181063;26350204 False 1 0;0;100 30.556 False ENSG00000162413 ENSG00000162413 HGNC:29041 KLHL34 gene KLHL34 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 26350204 False 1 0;0;100 30.556 False ENSG00000185915 ENSG00000185915 HGNC:26634 KLHL4 gene KLHL4 Expert Review Red;Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) False 1 0;0;100 30.556 False ENSG00000102271 ENSG00000102271 HGNC:6355 KLHL40 gene KLHL40 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 8, autosomal recessive, 615348 False 1 50;0;50 30.556 False ENSG00000157119 ENSG00000157119 HGNC:30372 KRIT1 gene KRIT1 Expert Review Red;Expert Review Red Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1 (CCM1) 0 False 1 33;67;0 30.556 False ENSG00000001631 ENSG00000001631 HGNC:1573 L2HGDH gene L2HGDH Expert Review Red;NHS GMS Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal L-2-hydroxyglutaric aciduria, 236792 False 1 0;0;100 30.556 False ENSG00000087299 ENSG00000087299 HGNC:20499 LACTB gene LACTB Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology No OMIM phenotype False 1 0;100;0 30.556 False ENSG00000103642 ENSG00000103642 HGNC:16468 LACTB gene LACTB Expert Review Red Childhood onset leukodystrophy Neurology Unknown No OMIM phenotype False 1 0;100;0 30.556 False ENSG00000103642 ENSG00000103642 HGNC:16468 LAMC3 gene LAMC3 Expert Review Red;NHS GMS;Victorian Clinical Genetics Services;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cortical malformations, occipital, OMIM:614115;occipital pachygyria and polymicrogyria, MONDO:0013583 21572413;26802095;29247375;33639934;34354730;38758065 False 1 60;0;40 30.556 False ENSG00000050555 ENSG00000050555 HGNC:6494 LARS gene LARS Expert Childhood onset leukodystrophy Neurology False 1 100;0;0 30.556 False ENSG00000133706 ENSG00000133706 HGNC:6512 LBR gene LBR Victorian Clinical Genetics Services;Expert Review Red;Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal ?Reynolds syndrome 12618959 False 1 33;67;0 30.556 False ENSG00000143815 ENSG00000143815 HGNC:6518 LDB3 gene LDB3 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, myofibrillar, 4, 609452; Cardiomyopathy, dilated 1C, 601493; Left ventricular noncompaction 3, with or without dilated cardiomyopathy, 601493 False 1 50;0;50 30.556 False Other - please provide details in the comments ENSG00000122367 ENSG00000122367 HGNC:15710 LEMD3 gene LEMD3 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Osteopoikilosis, 166700;Buschke-Ollendorff syndrome, 166700;Melorheostosis with osteopoikilosis, 155950 False 1 50;0;50 30.556 False ENSG00000174106 ENSG00000174106 HGNC:28887 LFNG gene LFNG Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal ?Spondylocostal dysostosis 3, autosomal recessive, 609813 False 1 50;0;50 30.556 False ENSG00000106003 ENSG00000106003 HGNC:6560 LGI1 gene LGI1 Expert Review Red;Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Epilepsy, familial temporal lobe, 1, OMIM:600512;developmental and epileptic encephalopathy, MONDO:0100620 26773249;40455867;41000458 False 1 25;0;75 30.556 False ENSG00000108231 ENSG00000108231 HGNC:6572 LGI4 gene LGI4 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Arthrogryposis Multiplex Congenita;Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468;AMCNMY;Intellectual disability;Global developmental delay 28318499;15857855;16341215 False 1 50;0;50 30.556 False ENSG00000153902 ENSG00000153902 HGNC:18712 LHFPL3 gene LHFPL3 Expert Review Red;Expert Review Red Childhood onset leukodystrophy Neurology 20219702 False 1 0;0;100 30.556 False ENSG00000187416 ENSG00000187416 HGNC:6589 LHX3 gene LHX3 Expert Review Red;Victorian Clinical Genetics Services;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Gene2Phenotype confirmed gene with ID HPO False 1 50;0;50 30.556 False ENSG00000107187 ENSG00000107187 HGNC:6595 LHX4 gene LHX4 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pituitary hormone deficiency, combined, 4, 262700 False 1 50;0;50 30.556 False ENSG00000121454 ENSG00000121454 HGNC:21734 LIMK1 gene LIMK1 Expert Review Red Childhood onset leukodystrophy Neurology Williams-Beuren syndrome False 1 0;0;100 30.556 False ENSG00000106683 ENSG00000106683 HGNC:6613 LIPI gene LIPI London North GLH;NHS GMS;Expert Review Red Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Hypertriglyceridemia, susceptibility to}, 145750;Familial hypertriglyceridaemia (Inherited hypertriglyceridaemias) 27604308 False 1 0;0;100 30.556 False ENSG00000188992 ENSG00000188992 HGNC:18821 LITAF gene LITAF Expert Review Red;Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot-Marie-Tooth disease, type 1C, 601098 False 1 100;0;0 30.556 False ENSG00000189067 ENSG00000189067 HGNC:16841 LMX1B gene LMX1B Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Nail-patella syndrome, 161200 False 1 50;0;50 30.556 False ENSG00000136944 ENSG00000136944 HGNC:6654 LOXHD1 gene LOXHD1 Expert Review Red;Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 77, 613079 False 1 100;0;0 30.556 False ENSG00000167210 ENSG00000167210 HGNC:26521 LRAT gene LRAT Expert Review Red;Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal LEBER CONGENITAL AMAUROSIS 0 False 1 0;100;0 30.556 False ENSG00000121207 ENSG00000121207 HGNC:6685 LRP1 gene LRP1 Expert Review Red Childhood onset leukodystrophy Neurology 26350204 False 1 0;0;100 30.556 False ENSG00000123384 ENSG00000123384 HGNC:6692 LRP4 gene LRP4 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Cenani-Lenz syndactyly syndrome, 212780;Sclerosteosis 2, 614305 False 1 50;0;50 30.556 False ENSG00000134569 ENSG00000134569 HGNC:6696 LRRC6 gene LRRC6 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 19, 614935 False 1 50;0;50 30.556 False ENSG00000129295 ENSG00000129295 HGNC:16725 LRRK1 gene LRRK1 Expert Review Red Childhood onset leukodystrophy Neurology 26350204 False 1 0;0;100 30.556 False ENSG00000154237 ENSG00000154237 HGNC:18608 LRRK2 gene LRRK2 Expert Review Red;Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Parkinson disease 8, 607060 False 1 100;0;0 30.556 False ENSG00000188906 ENSG00000188906 HGNC:18618 LTBP2 gene LTBP2 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Glaucoma 3, primary congenital, D, 613086;Microspherophakia; and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750;Weill-Marchesani syndrome 3, recessive, 614819 False 1 50;0;50 30.556 False ENSG00000119681 ENSG00000119681 HGNC:6715 LTBP3 gene LTBP3 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Tooth agenesis, selective, 6, 613097 False 1 50;0;50 30.556 False ENSG00000168056 ENSG00000168056 HGNC:6716 LYST gene LYST Victorian Clinical Genetics Services;Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Gene2Phenotype confirmed gene with ID HPO;Chediak-Higashi syndrome, 214500 False 1 67;0;33 30.556 False ENSG00000143669 ENSG00000143669 HGNC:1968 MACC1 gene MACC1 Other Childhood onset leukodystrophy Neurology Unknown False 1 0;0;0 30.556 False ENSG00000183742 ENSG00000183742 HGNC:30215 MAFB gene MAFB Expert Review Red;Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Duane retraction syndrome 3 (617041);Multicentric carpotarsal osteolysis syndrome (166300) 3591830;3041835;23670161 False 1 100;0;0 30.556 False Other - please provide details in the comments ENSG00000204103 ENSG00000204103 HGNC:6408 MAGEA11 gene MAGEA11 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 26350204 False 1 0;0;100 30.556 False ENSG00000185247 ENSG00000185247 HGNC:6798 MAGEB1 gene MAGEB1 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 26350204 False 1 0;0;100 30.556 False ENSG00000214107 ENSG00000214107 HGNC:6808 MAGEB10 gene MAGEB10 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 26350204 False 1 0;0;100 30.556 False ENSG00000177689 ENSG00000177689 HGNC:25377 MAGEB2 gene MAGEB2 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 26350204 False 1 0;0;100 30.556 False ENSG00000099399 ENSG00000099399 HGNC:6809 MAGEC1 gene MAGEC1 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 26350204 False 1 0;0;100 30.556 False ENSG00000155495 ENSG00000155495 HGNC:6812 MAGEC3 gene MAGEC3 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 26350204 False 1 0;0;100 30.556 False ENSG00000165509 ENSG00000165509 HGNC:23798 MAGED1 gene MAGED1 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females X-linked syndrome characterized by intellectual disability 28414775;24700102;22865874 False 1 0;0;100 30.556 False ENSG00000179222 ENSG00000179222 HGNC:6813 MAGEE2 gene MAGEE2 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 26350204 False 1 0;0;100 30.556 False ENSG00000186675 ENSG00000186675 HGNC:24935 MAGI2 gene MAGI2 Expert Review Red Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy;Infantile spasms 18565486;27932480 False 1 0;0;100 30.556 False ENSG00000187391 ENSG00000187391 HGNC:18957 MAGIX gene MAGIX Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 26350204 False 1 0;0;100 30.556 False ENSG00000017621 ENSG00000269313 HGNC:30006 MAGT1 gene MAGT1 Victorian Clinical Genetics Services;Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, 300853 18455129;23871722;21796205 False 1 0;0;100 30.556 False ENSG00000102158 ENSG00000102158 HGNC:28880 MAOB gene MAOB Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 26350204;20485326;8613523;29321361 False 1 0;0;100 30.556 False ENSG00000069535 ENSG00000069535 HGNC:6834 MAP3K1 gene MAP3K1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 46XY sex reversal 6, 613762 False 1 50;0;50 30.556 False ENSG00000095015 ENSG00000095015 HGNC:6848 MAP3K15 gene MAP3K15 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 26350204 False 1 0;0;100 30.556 False ENSG00000180815 ENSG00000180815 HGNC:31689 MAP3K7 gene MAP3K7 Expert Review Red;Literature;Literature Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Frontometaphyseal dysplasia 2, 617137 27426733;30914295 False 1 0;0;100 30.556 False ENSG00000135341 ENSG00000135341 HGNC:6859 MAP7D3 gene MAP7D3 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability 28600779;2635020 False 1 0;0;100 30.556 False ENSG00000129680 ENSG00000129680 HGNC:25742 MAPT gene MAPT Expert Review Red;Victorian Clinical Genetics Services;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dementia, frontotemporal, with or without parkinsonism, 600274; Pick disease, 172700; Supranuclear palsy, progressive, 601104; Supranuclear palsy, progressive atypical, 260540; {Parkinson disease, susceptibility to}, 168600 False 1 100;0;0 30.556 False ENSG00000186868 ENSG00000186868 HGNC:6893 MARS2 gene MARS2 Expert Review Red;Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 25 (616430) (global developmental delay) 25754315;39995633 False 1 50;0;50 30.556 False ENSG00000247626 ENSG00000247626 HGNC:25133 MAT1A gene MAT1A Expert Review Red Childhood onset leukodystrophy Neurology Unknown Calcifications in basal ganglia;Methionine adenosyltransferase deficiency, autosomal recessive 8770875 False 1 0;0;0 30.556 False ENSG00000151224 ENSG00000151224 HGNC:6903 MATN3 gene MATN3 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epiphyseal dysplasia, multiple, 5, 607078;{Osteoarthritis; susceptibility 2}, 140600;Spondyloepimetaphyseal dysplasia, 608728 False 1 50;0;50 30.556 False Other - please provide details in the comments ENSG00000132031 ENSG00000132031 HGNC:6909 MBNL3 gene MBNL3 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 26350204 False 1 0;0;100 30.556 False ENSG00000076770 ENSG00000076770 HGNC:20564 MC2R gene MC2R Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200 False 1 50;0;50 30.556 False ENSG00000185231 ENSG00000185231 HGNC:6930 MCEE gene MCEE Expert Review Red;Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Methylmalonyl-CoA epimerase deficiency 16752391 False 1 33;67;0 30.556 False ENSG00000124370 ENSG00000124370 HGNC:16732 MCM9 gene MCM9 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000111877 ENSG00000111877 HGNC:21484 MECR gene MECR Expert Review Red;Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Childhood-Onset Dystonia and Optic Atrophy False 1 100;0;0 30.556 False ENSG00000116353 ENSG00000116353 HGNC:19691 MEGF10 gene MEGF10 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Gene2Phenotype confirmed gene with ID HPO False 1 100;0;0 30.556 False ENSG00000145794 ENSG00000145794 HGNC:29634 MEGF8 gene MEGF8 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Gene2Phenotype confirmed gene with ID HPO False 1 100;0;0 30.556 False ENSG00000105429 ENSG00000105429 HGNC:3233 MESP2 gene MESP2 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis 2, autosomal recessive, 608681 False 1 50;0;50 30.556 False ENSG00000188095 ENSG00000188095 HGNC:29659 MET gene MET Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000105976 ENSG00000105976 HGNC:7029 METAP1 gene METAP1 Expert Review Red;Literature Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Intellectual disability, aggression, neurodevelopmental delay 32764695 False 1 0;0;100 30.556 False ENSG00000164024 ENSG00000164024 HGNC:15789 MFF gene MFF Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Encephalopathy due to defective mitochondrial and peroxisomal fission 2 617086 False 1 0;0;0 30.556 False ENSG00000168958 ENSG00000168958 HGNC:24858 MFRP gene MFRP Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal NA False 1 50;0;50 30.556 False ENSG00000235718 ENSG00000235718 HGNC:18121 MGAT5B gene MGAT5B Expert Review Red Childhood onset leukodystrophy Neurology 26350204 False 1 0;0;100 30.556 False ENSG00000167889 ENSG00000167889 HGNC:24140 MGP gene MGP Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Keutel syndrome 245150 15810001;9916809;24458983;29928182;25123378;26349188;26758921 False 1 20;40;40 30.556 False ENSG00000111341 ENSG00000111341 HGNC:7060 MIB1 gene MIB1 Expert Review Red Childhood onset leukodystrophy Neurology 26350204 False 1 0;0;100 30.556 False ENSG00000101752 ENSG00000101752 HGNC:21086 MICU2 gene MICU2 Expert list Childhood onset leukodystrophy Neurology severe cognitive impairment and spasticity 29903433;29053821 False 1 0;0;100 30.556 False ENSG00000165487 ENSG00000165487 HGNC:31830 MIEF2 gene MIEF2 Expert Review Red;Literature Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 49, OMIM:619024 29361167 False 1 0;50;50 30.556 False ENSG00000177427 ENSG00000177427 HGNC:17920 MITF gene MITF Expert Review Red;Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Waardenburg syndrome, type 2A, 193510; Waardenburg; syndrome/ocular albinism, digenic, 103470; Tietz albinism-deafness syndrome, 103500; {Melanoma, cutaneous malignant, susceptibility to, 8}, 614456 False 1 100;0;0 30.556 False ENSG00000187098 ENSG00000187098 HGNC:7105 MLH1 gene MLH1 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Mismatch repair cancer syndrome False 1 0;0;100 30.556 False ENSG00000076242 ENSG00000076242 HGNC:7127 MMP13 gene MMP13 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spondyloepimetaphyseal dysplasia, Missouri type, 602111;Metaphyseal anadysplasia 1, 602111 False 1 50;0;50 30.556 False Other - please provide details in the comments ENSG00000137745 ENSG00000137745 HGNC:7159 MMP21 gene MMP21 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Heterotaxy, visceral, 7, autosomal 616749 False 1 50;0;50 30.556 False ENSG00000154485 ENSG00000154485 HGNC:14357 MNX1 gene MNX1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Gene2Phenotype confirmed gene with ID HPO False 1 33;0;67 30.556 False ENSG00000130675 ENSG00000130675 HGNC:4979 MORC4 gene MORC4 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 26350204 False 1 0;0;100 30.556 False ENSG00000133131 ENSG00000133131 HGNC:23485 MPDZ gene MPDZ Expert Review Red;Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Hydrocephalus, nonsyndromic, autosomal recessive 2 23240096 False 1 0;0;100 30.556 False ENSG00000107186 ENSG00000107186 HGNC:7208 MPI gene MPI Expert Review Red;Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ib, OMIM:602579;MPI-CDG, MONDO:0011257 9525984;3080572;12414827;9585601;10980531;33098580;33204592;32905087;32266963;30242110 False 1 20;40;40 30.556 False ENSG00000178802 ENSG00000178802 HGNC:7216 MPLKIP gene MPLKIP Expert Review Red;NHS GMS Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 4, nonphotosensitive, OMIM:234050 25655951;25290684;26518168;25606444;26880286;29421601;30580289;30598092;16977596;33043633;33729667 False 1 0;0;100 30.556 False ENSG00000168303 ENSG00000168303 HGNC:16002 MPZ gene MPZ Expert Review Red Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neuropathy,congenital hypomyelinating,605253;Congenital Hypomyelination False 1 0;0;0 30.556 False ENSG00000158887 ENSG00000158887 HGNC:7225 MPZ gene MPZ Victorian Clinical Genetics Services;Expert Review Red;Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Associated with Charcot-Marie-Tooth disease, dominant intermediate D ( 607791);Charcot-Marie-Tooth disease, type 1B False 1 100;0;0 30.556 False ENSG00000158887 ENSG00000158887 HGNC:7225 MRAP gene MRAP Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000170262 ENSG00000170262 HGNC:1304 MRE11 gene MRE11 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Nijmegen breakage syndrome-like severe microcephaly, Intellectual disability 21227757 False 1 25;50;25 30.556 False ENSG00000020922 ENSG00000020922 HGNC:7230 MRPL12 gene MRPL12 Expert list;Expert Review Red Childhood onset leukodystrophy Neurology Unknown Multiple respiratory chain complex deficiencies (disorders of protein synthesis);No OMIM phenotype False 1 33;0;67 30.556 False ENSG00000262814 ENSG00000262814 HGNC:10378 MRPL12 gene MRPL12 Victorian Clinical Genetics Services;Radboud University Medical Center, Nijmegen;Expert list Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);No OMIM phenotype 23603806 False 1 50;0;50 30.556 False ENSG00000262814 ENSG00000262814 HGNC:10378 MRPL40 gene MRPL40 Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology No OMIM phenotype False 1 0;50;50 30.556 False ENSG00000185608 ENSG00000185608 HGNC:14491 MRPL40 gene MRPL40 Expert Review Red Childhood onset leukodystrophy Neurology Unknown No OMIM phenotype False 1 0;50;50 30.556 False ENSG00000185608 ENSG00000185608 HGNC:14491 MRPS23 gene MRPS23 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal hepatic disease and combined respiratory chain complex deficiencies PMID: 26741492 False 1 50;0;50 30.556 False ENSG00000181610 ENSG00000181610 HGNC:14509 MRPS23 gene MRPS23 Victorian Clinical Genetics Services;Expert Review Red;Expert list Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal hepatic disease and combined respiratory chain complex deficiencies 26741492 False 1 67;0;33 30.556 True ENSG00000181610 ENSG00000181610 HGNC:14509 MRPS25 gene MRPS25 Expert Review Red;Literature Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 50, OMIM:619025 31039582 False 1 0;50;50 30.556 False ENSG00000131368 ENSG00000131368 HGNC:14511 MRPS28 gene MRPS28 Expert Review Red;Literature Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 47, OMIM:618958 30566640 False 1 0;50;50 30.556 False ENSG00000147586 ENSG00000147586 HGNC:14513 MRPS7 gene MRPS7 Victorian Clinical Genetics Services;Expert list Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);?Combined oxidative phosphorylation deficiency 34, 617872 False 1 100;0;0 30.556 False ENSG00000125445 ENSG00000125445 HGNC:14499 MSX1 gene MSX1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ectodermal dysplasia 3, Witkop type, OMIM:189500;Orofacial cleft 5, OMIM:608874;Tooth agenesis, selective, 1, with or without orofacial cleft, OMIM:106600 False 1 50;0;50 30.556 False ENSG00000163132 ENSG00000163132 HGNC:7391 MSX2 gene MSX2 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Craniosynostosis, type 2, 604757;Parietal foramina 1, 168500;Parietal foramina with cleidocranial dysplasia, 168550 False 1 50;0;50 30.556 False ENSG00000120149 ENSG00000120149 HGNC:7392 MT-ATP6 gene MT-ATP6 Expert Review Red;Expert Review Red;Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MITOCHONDRIAL n/a 8644724 False 1 100;0;0 30.556 False ENSG00000198899 ENSG00000198899 HGNC:7414 MTF1 gene MTF1 Expert Review Red Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted INTELLECTUAL DISABILITY 26350204;28901405;18341605;23033978 False 1 0;0;100 30.556 False ENSG00000188786 ENSG00000188786 HGNC:7428 MTHFD1 gene MTHFD1 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal {Abruptio placentae, susceptibility to};{Spina bifida, folate-sensitive, susceptibility to} 601634 AR False 1 0;0;100 30.556 False ENSG00000100714 ENSG00000100714 HGNC:7432 MTM1 gene MTM1 Expert Review Red;Expert Review Red;Emory Genetics Laboratory Childhood onset leukodystrophy Neurology Myopathy, centronuclear, X-linked, OMIM:310400 False 1 33;0;67 30.556 False ENSG00000171100 ENSG00000171100 HGNC:7448 MTMR1 gene MTMR1 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 26350204 False 1 0;0;100 30.556 False ENSG00000063601 ENSG00000063601 HGNC:7449 MTMR14 gene MTMR14 Gene2Phenotype Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Centronuclear myopathy, autosomal, modifier of}, 160150;Autosomal dominant centronuclear myopathy 17008356 False 1 0;0;100 30.556 False ENSG00000163719 ENSG00000163719 HGNC:26190 MTMR2 gene MTMR2 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4B, 601382 False 1 50;0;50 30.556 False ENSG00000087053 ENSG00000087053 HGNC:7450 MTMR8 gene MTMR8 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 26350204;19377476;22670894 False 1 0;0;100 30.556 False ENSG00000102043 ENSG00000102043 HGNC:16825 MT-ND1 gene MT-ND1 Expert Review Red;Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MITOCHONDRIAL Leber optic atrophy;Sudden infant death syndrome;Mitochondrial complex I deficiency;Dystonia, adult-onset;Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes syndrome;MELAS syndrome;Deafness, nonsyndromic sensorineural, mitochondrial False 1 50;0;50 30.556 False ENSG00000198888 ENSG00000198888 HGNC:7455 MT-ND4 gene MT-ND4 Expert Review Red;Expert Review Red;Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MITOCHONDRIAL Mitochondrial complex I deficiency;autism spectrum disorder;intellectual disability 29340697;12707444 False 1 50;0;50 30.556 False ENSG00000198886 ENSG00000198886 HGNC:7459 MTPAP gene MTPAP Expert Review Red;Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal ?Spastic ataxia 4, autosomal recessive False 1 100;0;0 30.556 False ENSG00000107951 ENSG00000107951 HGNC:25532 MT-TK gene MT-TK Expert Review Red;Expert Review Red;Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MITOCHONDRIAL MERRF syndrome 545000;MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME 8264702;9380435 False 1 50;0;50 30.556 False ENSG00000210156 ENSG00000210156 HGNC:7489 MTTP gene MTTP Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Abetalipoproteinemia, 200100 8361539;10946006;16721486;12630961;10679949;18611256;27160094 False 1 0;0;100 30.556 False ENSG00000138823 ENSG00000138823 HGNC:7467 MT-TP gene MT-TP Expert Review Red Childhood onset leukodystrophy Neurology MITOCHONDRIAL 0 False 1 33;67;0 30.556 False ENSG00000210196 ENSG00000210196 HGNC:7494 MXRA5 gene MXRA5 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 26350204 False 1 0;0;100 30.556 False ENSG00000101825 ENSG00000101825 HGNC:7539 MYBPC1 gene MYBPC1 Expert Review Red;Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arthrogryposis, distal, type 1B 614335 AD;Lethal congenital contracture syndrome 4 614915 AR 26661508 False 1 100;0;0 30.556 False ENSG00000196091 ENSG00000196091 HGNC:7549 MYH3 gene MYH3 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Gene2Phenotype confirmed gene with ID HPO False 1 100;0;0 30.556 False ENSG00000109063 ENSG00000109063 HGNC:7573 MYH6 gene MYH6 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, familial hypertrophic, 14, 613251;Atrial septal; defect 3, 614089;Cardiomyopathy, dilated, 1EE, 613252;{Sick sinus syndrome 3}, 614090 False 1 50;0;50 30.556 False ENSG00000197616 ENSG00000197616 HGNC:7576 MYH8 gene MYH8 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Carney complex variant, 608837;Trismus-pseudocamptodactyly; syndrome, 158300 False 1 50;0;50 30.556 False ENSG00000133020 ENSG00000133020 HGNC:7578 MYH9 gene MYH9 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown May-Hegglin anomaly, 155100;Fechtner syndrome, 153640;Sebastian syndrome, 605249;Deafness, autosomal dominant 17, 603622;Epstein syndrome, 153650;Macrothrombocytopenia and progressive; sensorineural deafness, 600208 False 1 50;0;50 30.556 False ENSG00000100345 ENSG00000100345 HGNC:7579 MYO1D gene MYO1D Expert Review Red Childhood onset leukodystrophy Neurology 26350204 False 1 0;0;100 30.556 False ENSG00000176658 ENSG00000176658 HGNC:7598 MYO1G gene MYO1G Expert Review Red Childhood onset leukodystrophy Neurology 26350204 False 1 0;0;100 30.556 False ENSG00000136286 ENSG00000136286 HGNC:13880 MYO1H gene MYO1H Literature;Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal ?Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction OMIM:619482 28779001 False 1 0;0;100 30.556 False ENSG00000174527 ENSG00000174527 HGNC:13879 MYO5B gene MYO5B Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Diarrhea 2, with microvillus atrophy, OMIM:251850 False 1 50;0;50 30.556 False ENSG00000167306 ENSG00000167306 HGNC:7603 MYO7A gene MYO7A Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Gene2Phenotype both DD and IF gene with ID HPO False 1 100;0;0 30.556 False ENSG00000137474 ENSG00000137474 HGNC:7606 MYT1 gene MYT1 Expert Review Red;Literature Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability, MONDO:0001071 33710394;18341605 False 1 0;0;100 30.556 False ENSG00000196132 ENSG00000196132 HGNC:7622 NAA60 gene NAA60 Expert Review Red;Literature Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Basal ganglia calcification, idiopathic, 9, autosomal recessive, OMIM:620786;basal ganglia calcification, idiopathic, 9, autosomal recessive, MONDO:0968977 38480682 False 1 0;0;100 30.556 False ENSG00000122390 ENSG00000122390 HGNC:25875 NADK2 gene NADK2 Literature;Literature Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal 2,4-dienoyl-CoA reductase deficiency, OMIM:616034 False 1 0;0;0 30.556 False ENSG00000152620 ENSG00000152620 HGNC:26404 NAT8L gene NAT8L Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal ?N-acetylaspartate deficiency 614063 19807691 False 1 0;0;100 30.556 False ENSG00000185818 ENSG00000185818 HGNC:26742 NCAPH gene NCAPH Expert Review Red;Literature Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Microcephaly 23, primary, autosomal recessive, 617985 27737959 False 1 0;0;0 30.556 False ENSG00000121152 ENSG00000121152 HGNC:1112 NDE1 gene NDE1 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Lissencephaly 4 (with microcephaly), 614019;Lissencephaly, Recessive;Cerebral Malformation Disorders False 1 0;0;0 30.556 False ENSG00000072864 ENSG00000072864 HGNC:17619 NDN gene NDN Literature Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Smith-Magenis-like syndrome 28213671 False 1 0;0;100 30.556 False ENSG00000182636 ENSG00000182636 HGNC:7675 NDRG1 gene NDRG1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot-Marie-Tooth disease, type 4D, 601455 False 1 50;0;50 30.556 False ENSG00000104419 ENSG00000104419 HGNC:7679 NDUFA10 gene NDUFA10 Gene2Phenotype Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Leigh syndrome, 256000;Leigh disease with leukodystrophy;Nuclear Gene-Encoded Leigh syndrome 26425749;26741492;21150889 False 1 0;0;100 30.556 False ENSG00000130414 ENSG00000130414 HGNC:7684 NDUFA11 gene NDUFA11 Expert Review Red;Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology Mitochondrial complex I deficiency 252010 18306244 False 1 0;0;100 30.556 False ENSG00000174886 ENSG00000174886 HGNC:20371 NDUFA12 gene NDUFA12 Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244 21617257;33715266;35141356 False 1 0;0;100 30.556 False ENSG00000184752 ENSG00000184752 HGNC:23987 NDUFA2 gene NDUFA2 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial leukoencephalopathy 28857146 False 1 0;0;0 30.556 False ENSG00000131495 ENSG00000131495 HGNC:7685 NDUFA3 gene NDUFA3 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Leigh syndrome 39661167 False 1 0;100;0 30.556 False ENSG00000170906 ENSG00000170906 HGNC:7686 NDUFA3 gene NDUFA3 Radboud University Medical Center, Nijmegen;Expert list Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Leigh syndrome 39661167 False 1 0;100;0 30.556 False ENSG00000170906 ENSG00000170906 HGNC:7686 NDUFA5 gene NDUFA5 Radboud University Medical Center, Nijmegen;Expert list Childhood onset leukodystrophy Neurology Isolated complex I deficiency;No OMIM phenotype 24154540 False 1 0;100;0 30.556 False ENSG00000128609 ENSG00000128609 HGNC:7688 NDUFA5 gene NDUFA5 Expert Review Red Childhood onset leukodystrophy Neurology Unknown No OMIM phenotype;Isolated complex I deficiency False 1 0;100;0 30.556 False ENSG00000128609 ENSG00000128609 HGNC:7688 NDUFA7 gene NDUFA7 Expert Review Red Childhood onset leukodystrophy Neurology Unknown No OMIM phenotype;Isolated complex I deficiency False 1 0;100;0 30.556 False ENSG00000267855 ENSG00000267855 HGNC:7691 NDUFA7 gene NDUFA7 Radboud University Medical Center, Nijmegen;Expert list Childhood onset leukodystrophy Neurology Isolated complex I deficiency;No OMIM phenotype False 1 0;100;0 30.556 False ENSG00000267855 ENSG00000267855 HGNC:7691 NDUFA9 gene NDUFA9 Gene2Phenotype Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Leigh syndrome due to mitochondrial complex I deficiency, 256000;Leigh disease with leukodystrophy;Nuclear Gene-Encoded Leigh syndrome 22114105;26425749 False 1 0;0;100 30.556 False ENSG00000139180 ENSG00000139180 HGNC:7693 NDUFAB1 gene NDUFAB1 Expert Review Red Childhood onset leukodystrophy Neurology Unknown No OMIM phenotype;Isolated complex I deficiency False 1 0;100;0 30.556 False ENSG00000004779 ENSG00000004779 HGNC:7694 NDUFAB1 gene NDUFAB1 Radboud University Medical Center, Nijmegen;Expert list Childhood onset leukodystrophy Neurology Isolated complex I deficiency;No OMIM phenotype False 1 0;100;0 30.556 False ENSG00000004779 ENSG00000004779 HGNC:7694 NDUFAF3 gene NDUFAF3 Literature;Literature Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency False 1 0;0;100 30.556 False ENSG00000178057 ENSG00000178057 HGNC:29918 NDUFAF7 gene NDUFAF7 Expert Review Red;NHS GMS Childhood onset leukodystrophy Neurology Unknown No OMIM phenotype 28837730 False 1 0;50;50 30.556 False ENSG00000003509 ENSG00000003509 HGNC:28816 NDUFB1 gene NDUFB1 Radboud University Medical Center, Nijmegen;Expert list Childhood onset leukodystrophy Neurology Isolated complex I deficiency;No OMIM phenotype False 1 0;100;0 30.556 False ENSG00000183648 ENSG00000183648 HGNC:7695 NDUFB1 gene NDUFB1 Expert Review Red Childhood onset leukodystrophy Neurology Unknown No OMIM phenotype;Isolated complex I deficiency False 1 0;100;0 30.556 False ENSG00000183648 ENSG00000183648 HGNC:7695 NDUFB2 gene NDUFB2 Expert Review Red Childhood onset leukodystrophy Neurology Unknown Isolated complex I deficiency False 1 0;100;0 30.556 False ENSG00000090266 ENSG00000090266 HGNC:7697 NDUFB2 gene NDUFB2 Expert list Childhood onset leukodystrophy Neurology Isolated complex I deficiency False 1 0;100;0 30.556 False ENSG00000090266 ENSG00000090266 HGNC:7697 NDUFB4 gene NDUFB4 Radboud University Medical Center, Nijmegen;Expert list Childhood onset leukodystrophy Neurology Isolated complex I deficiency;No OMIM phenotype False 1 0;100;0 30.556 False ENSG00000065518 ENSG00000065518 HGNC:7699 NDUFB4 gene NDUFB4 Expert Review Red Childhood onset leukodystrophy Neurology Unknown No OMIM phenotype;Isolated complex I deficiency False 1 0;100;0 30.556 False ENSG00000065518 ENSG00000065518 HGNC:7699 NDUFB5 gene NDUFB5 Expert Review Red Childhood onset leukodystrophy Neurology Unknown Isolated complex I deficiency False 1 0;100;0 30.556 False ENSG00000136521 ENSG00000136521 HGNC:7700 NDUFB5 gene NDUFB5 Expert list Childhood onset leukodystrophy Neurology Isolated complex I deficiency False 1 0;100;0 30.556 False ENSG00000136521 ENSG00000136521 HGNC:7700 NDUFB6 gene NDUFB6 Expert list Childhood onset leukodystrophy Neurology Isolated complex I deficiency False 1 0;100;0 30.556 False ENSG00000165264 ENSG00000165264 HGNC:7701 NDUFB6 gene NDUFB6 Expert Review Red Childhood onset leukodystrophy Neurology Unknown Isolated complex I deficiency False 1 0;100;0 30.556 False ENSG00000165264 ENSG00000165264 HGNC:7701 NDUFC1 gene NDUFC1 Expert Review Red Childhood onset leukodystrophy Neurology Unknown No OMIM phenotype;Isolated complex I deficiency False 1 0;100;0 30.556 False ENSG00000109390 ENSG00000109390 HGNC:7705 NDUFC1 gene NDUFC1 Radboud University Medical Center, Nijmegen;Expert list Childhood onset leukodystrophy Neurology Isolated complex I deficiency;No OMIM phenotype False 1 0;100;0 30.556 False ENSG00000109390 ENSG00000109390 HGNC:7705 NDUFS2 gene NDUFS2 Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency False 1 0;0;100 30.556 False ENSG00000158864 ENSG00000158864 HGNC:7708 NDUFS3 gene NDUFS3 Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Leigh syndrome due to mitochondrial complex I deficiency False 1 0;0;100 30.556 False ENSG00000213619 ENSG00000213619 HGNC:7710 NDUFS5 gene NDUFS5 Expert Review Red Childhood onset leukodystrophy Neurology Unknown Mitochondrial Diseases;No OMIM phenotype;Isolated complex I deficiency False 1 0;100;0 30.556 False ENSG00000168653 ENSG00000168653 HGNC:7712 NDUFS5 gene NDUFS5 Expert Review Red;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen;Expert list Childhood onset leukodystrophy Neurology Isolated complex I deficiency;No OMIM phenotype;Mitochondrial Diseases False 1 0;100;0 30.556 True ENSG00000168653 ENSG00000168653 HGNC:7712 NDUFV3 gene NDUFV3 Expert Review Red;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen;Expert list Childhood onset leukodystrophy Neurology Unknown Isolated complex I deficiency;No OMIM phenotype;Mitochondrial Diseases False 1 0;100;0 30.556 True ENSG00000160194 ENSG00000160194 HGNC:7719 NDUFV3 gene NDUFV3 Expert Review Red Childhood onset leukodystrophy Neurology Unknown Mitochondrial Diseases;No OMIM phenotype;Isolated complex I deficiency False 1 0;100;0 30.556 False ENSG00000160194 ENSG00000160194 HGNC:7719 NEB gene NEB Gene2Phenotype Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 2, autosomal recessive, 256030 10051637;12207937;15221447;16917880;27933661 False 1 0;0;100 30.556 False ENSG00000183091 ENSG00000183091 HGNC:7720 NECAB2 gene NECAB2 Expert Review Red Childhood onset leukodystrophy Neurology 26350204 False 1 0;0;100 30.556 False ENSG00000103154 ENSG00000103154 HGNC:23746 NECTIN1 gene NECTIN1 Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology Cleft lip/palate-ectodermal dysplasia syndrome, 225060Orofacial cleft 7, 225060;CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME False 1 0;0;100 30.556 False ENSG00000110400 ENSG00000110400 HGNC:9706 NEFL gene NEFL Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot Marie Tooth disease, type 2E, 607684;Charcot Marie Tooth disease, type 1F, 607734 False 1 50;0;50 30.556 False ENSG00000104725 ENSG00000277586 HGNC:7739 NEK1 gene NEK1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 False 1 50;0;50 30.556 False ENSG00000137601 ENSG00000137601 HGNC:7744 NGF gene NGF Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;100 30.556 False ENSG00000134259 ENSG00000134259 HGNC:7808 NHEJ1 gene NHEJ1 Victorian Clinical Genetics Services;Expert Review Red;Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, OMIM:611291 False 1 50;0;50 30.556 False ENSG00000187736 ENSG00000187736 HGNC:25737 NHLRC1 gene NHLRC1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 2B (Lafora), 254780 False 1 50;0;50 30.556 False ENSG00000187566 ENSG00000187566 HGNC:21576 NIPA1 gene NIPA1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 6, autosomal dominant, 600363;Non Imprinted In Prader-Willi/Angelman Syndrome 1 14508710;15643603;15711826 False 1 50;0;50 30.556 False ENSG00000170113 ENSG00000170113 HGNC:17043 NKX2-5 gene NKX2-5 Expert Review Red;Expert Review Amber;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Atrial septal defect 7, with or without AV conduction defects, 108900;Tetrology of Fallot, 187500;Hypothyroidism, congenital nongoitrous, 5, 225250;Ventricular septal defect 3, 614432;Hypoplastic left heart syndrome 2, 614435;Conotruncal heart malformations, variable, 217095 False 1 50;0;50 30.556 False ENSG00000183072 ENSG00000183072 HGNC:2488 NKX3-2 gene NKX3-2 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330 False 1 50;0;50 30.556 False ENSG00000109705 ENSG00000109705 HGNC:951 NLGN4X gene NLGN4X Victorian Clinical Genetics Services;Expert Review Red;Emory Genetics Laboratory Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females SUSCEPTIBILITY TO AUTISM X-LINKED TYPE 2 (AUTSX2) 12669065;18231125;10071191;29428674 False 1 0;0;100 30.556 False ENSG00000146938 ENSG00000146938 HGNC:14287 NLRP3 gene NLRP3 Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CINCA syndrome, OMIM:607115 False 1 0;25;75 30.556 False ENSG00000162711 ENSG00000162711 HGNC:16400 NMNAT1 gene NMNAT1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 9, 608553 False 1 50;0;50 30.556 False ENSG00000173614 ENSG00000173614 HGNC:17877 NNT gene NNT Expert Childhood onset leukodystrophy Neurology False 1 100;0;0 30.556 False ENSG00000112992 ENSG00000112992 HGNC:7863 NODAL gene NODAL Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Heterotaxy, visceral, 5, 270100 False 1 50;0;50 30.556 False ENSG00000156574 ENSG00000156574 HGNC:7865 NOG gene NOG Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Symphalangism, proximal, 185800;Multiple synostoses syndrome 1, 186500;Tarsal-carpal coalition syndrome, 186570;Stapes ankylosis with broad thumb and toes, 184460;Brachydactyly, type B2, 611377 False 1 50;0;50 30.556 False ENSG00000183691 ENSG00000183691 HGNC:7866 NOP56 gene NOP56 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology Other Spinocerebellar ataxia 36, OMIM:614153 False 1 50;0;50 30.556 False ENSG00000101361 ENSG00000101361 HGNC:15911 NOTCH2 gene NOTCH2 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Alagille syndrome 2, 610205;Hajdu-Cheney syndrome, 102500 False 1 50;0;50 30.556 False Other - please provide details in the comments ENSG00000134250 ENSG00000134250 HGNC:7882 NPHP4 gene NPHP4 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 4, 606966;Senior-Loken syndrome 4, 606996 False 1 50;0;50 30.556 False ENSG00000131697 ENSG00000131697 HGNC:19104 NPHS1 gene NPHS1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 1, 256300 False 1 50;0;50 30.556 False ENSG00000161270 ENSG00000161270 HGNC:7908 NPHS2 gene NPHS2 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 2, 600995 False 1 50;0;50 30.556 False ENSG00000116218 ENSG00000116218 HGNC:13394 NPR2 gene NPR2 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Acromesomelic dysplasia, Maroteaux type, 602875;Epiphyseal chondrodysplasia, Miura type, 615923 False 1 50;0;50 30.556 False ENSG00000159899 ENSG00000159899 HGNC:7944 NPR3 gene NPR3 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000113389 ENSG00000113389 HGNC:7945 NR1I3 gene NR1I3 Expert Review Red Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted EHMT1-like Intellectual disability 22726846;29069077 False 1 0;0;100 30.556 False ENSG00000143257 ENSG00000143257 HGNC:7969 NR5A1 gene NR5A1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 46XY sex reversal 3, 612965;Premature ovarian failure 7, 612964;Adrenocortical insufficiency;Spermatogenic failure 8, 613957 False 1 50;0;50 30.556 False Other - please provide details in the comments ENSG00000136931 ENSG00000136931 HGNC:7983 NRK gene NRK Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Hypermobility syndrome;Sotos syndrome 21834033 False 1 0;0;100 30.556 False ENSG00000123572 ENSG00000123572 HGNC:25391 NRXN2 gene NRXN2 Expert Review Red Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted autism spectrum disorder;intellectual disability 21424692;26164757;21600320;29654904 False 1 50;25;25 30.556 False ENSG00000110076 ENSG00000110076 HGNC:8009 NRXN3 gene NRXN3 Expert Review Red Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autism spectrum disorder 22209245;30076746 False 1 0;0;100 30.556 False ENSG00000021645 ENSG00000021645 HGNC:8010 NSF gene NSF Expert Review Red;Literature Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental and epileptic encephalopathy 96, OMIM:619340 31675180;36645181 False 1 0;67;33 30.556 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000073969 ENSG00000073969 HGNC:8016 NT5C gene NT5C London North GLH;NHS GMS;Expert Review Red Childhood onset leukodystrophy Neurology Unknown Pyrimidine - 5 - nucleotidase deficiency (Disorders of pyrimidine metabolism) 27604308 False 1 0;0;100 30.556 False ENSG00000125458 ENSG00000125458 HGNC:17144 NTM gene NTM Expert Review Red Childhood onset leukodystrophy Neurology 26350204 False 1 0;0;100 30.556 False ENSG00000182667 ENSG00000182667 HGNC:17941 NTNG1 gene NTNG1 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000162631 ENSG00000162631 HGNC:23319 NUP62 gene NUP62 London North GLH;NHS GMS;Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Infantile striatal necrosis (Other metabolic disorders);Striatonigral degeneration, infantile, 271930 27604308 False 1 0;0;100 30.556 False ENSG00000213024 ENSG00000213024 HGNC:8066 NXF4 gene NXF4 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual Disability 26350204 False 1 0;0;100 30.556 False ENSG00000196970 ENSG00000196970 HGNC:8074 NXF5 gene NXF5 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual Disability 11566096;26350204;23675524;22030050;20096387 False 1 0;0;100 30.556 False ENSG00000126952 ENSG00000126952 HGNC:8075 OBSL1 gene OBSL1 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal 3-M Syndrome 2, 612921 24896178;19481195 False 1 25;50;25 30.556 False ENSG00000124006 ENSG00000124006 HGNC:29092 OCRL gene OCRL Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Lowe syndrome, MIM#309000 False 1 0;0;0 30.556 False ENSG00000122126 ENSG00000122126 HGNC:8108 ODF2L gene ODF2L Expert Review Red Childhood onset leukodystrophy Neurology False 1 0;0;100 30.556 False ENSG00000122417 ENSG00000122417 HGNC:29225 OR5M1 gene OR5M1 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Intellectual disability False 1 0;0;100 30.556 False ENSG00000255012 ENSG00000255012 HGNC:8352 ORC1 gene ORC1 Victorian Clinical Genetics Services;Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 1, OMIM:224690 21358633;25529582;24896178 False 1 100;0;0 30.556 False ENSG00000085840 ENSG00000085840 HGNC:8487 ORC4 gene ORC4 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 2, OMIM:613800 11477602;7710253;26381604 False 1 20;60;20 30.556 False ENSG00000115947 ENSG00000115947 HGNC:8490 ORC6 gene ORC6 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 3, OMIM:613803 7710253;26381604 False 1 20;60;20 30.556 False ENSG00000091651 ENSG00000091651 HGNC:17151 OSTC gene OSTC Expert Review Red;Literature Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Oligosaccharyltransferase complex-congenital disorders of glycosylation 32267060 False 1 0;0;100 30.556 False ENSG00000198856 ENSG00000198856 HGNC:24448 OTOGL gene OTOGL Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 84B, 614944 False 1 50;0;50 30.556 False ENSG00000165899 ENSG00000165899 HGNC:26901 OTULIN gene OTULIN Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099 False 1 50;0;50 30.556 False ENSG00000154124 ENSG00000154124 HGNC:25118 OXA1L gene OXA1L Expert Review Red;Expert Review Red Childhood onset leukodystrophy Neurology Unknown No OMIM phenotype False 1 0;100;0 30.556 False ENSG00000155463 ENSG00000155463 HGNC:8526 OXCT1 gene OXCT1 Expert Review Red;Emory Genetics Laboratory Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Succinyl-CoA: 3-Oxoacid CoA Transferase (SCOT) Deficiency;SUCCINYL-COA-3-KETOACID-COA TRANSFERASE DEFICIENCY False 1 33;67;0 30.556 False ENSG00000083720 ENSG00000083720 HGNC:8527 P2RY4 gene P2RY4 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) False 1 0;0;100 30.556 False ENSG00000186912 ENSG00000186912 HGNC:8542 P2RY8 gene P2RY8 Expert Review Red Childhood onset leukodystrophy Neurology Unknown False 1 0;0;100 30.556 False ENSG00000182162 ENSG00000182162 HGNC:15524 P3H1 gene P3H1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Gene2Phenotype confirmed gene with ID HPO False 1 100;0;0 30.556 False ENSG00000117385 ENSG00000117385 HGNC:19316 P4HB gene P4HB Victorian Clinical Genetics Services;Expert Review Red Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted COLE-CARPENTER SYNDROME 25683117 False 1 0;67;33 30.556 False ENSG00000185624 ENSG00000185624 HGNC:8548 PABPC5 gene PABPC5 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) False 1 0;0;100 30.556 False ENSG00000174740 ENSG00000174740 HGNC:13629 PALB2 gene PALB2 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group N, 610832;{Breast cancer, susceptibility to}, 114480;{Pancreatic cancer, susceptibility to, 3}, 613348 False 1 50;0;50 30.556 False ENSG00000083093 ENSG00000083093 HGNC:26144 PAM16 gene PAM16 Expert list Childhood onset leukodystrophy Neurology Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type 613320 29903433;27354339 False 1 0;0;100 30.556 False ENSG00000217930 ENSG00000217930 HGNC:29679 PANK2 gene PANK2 Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with brain iron accumulation 1, 234200;HARP syndrome, 607236 False 1 25;0;75 30.556 False ENSG00000125779 ENSG00000125779 HGNC:15894 PAPSS2 gene PAPSS2 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847 False 1 50;0;50 30.556 False ENSG00000198682 ENSG00000198682 HGNC:8604 PARK7 gene PARK7 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Parkinson disease 7, autosomal recessive early-onset, 606324 False 1 50;0;50 30.556 False ENSG00000116288 ENSG00000116288 HGNC:16369 PARP1 gene PARP1 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;0;100 30.556 False ENSG00000143799 ENSG00000143799 HGNC:270 PASD1 gene PASD1 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) False 1 0;0;100 30.556 False ENSG00000166049 ENSG00000166049 HGNC:20686 PAX2 gene PAX2 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Gene2Phenotype confirmed gene with ID HPO False 1 100;0;0 30.556 False ENSG00000075891 ENSG00000075891 HGNC:8616 PAX3 gene PAX3 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Waardenburg syndrome, type 1, 193500;Waardenburg syndrome, type; 3, 148820;Craniofacial-deafness-hand syndrome, 122880;Rhabdomyosarcoma 2, alveolar, 268220 False 1 50;0;50 30.556 False ENSG00000135903 ENSG00000135903 HGNC:8617 PAX6 gene PAX6 NHS GMS;Expert Review Red;Victorian Clinical Genetics Services;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;UKGTN Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aniridia, Cerebellar Ataxia, And Mental Retardation;Aniridia, 106210Peters anomaly, 604229Cataract with late-onset corneal dystrophy, 106210Keratitis, 148190Foveal hyperplasia, 136520Morning glory disc anomaly, 120430Optic nerve hypoplasia, 165550Coloboma, ocular, 120200Coloboma of optic nerve, 120430Gillespie syndrome, 206700;KERATITIS HEREDITARY (KERH) False 1 50;0;50 30.556 False ENSG00000007372 ENSG00000007372 HGNC:8620 PAX7 gene PAX7 Expert Review Red;Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Hypotonia;Axial hypotonia;Ptosis;Scoliosis;Delayed motor milestones;Myopathy, congenital, progressive, with scoliosis, 618578 31092906 False 1 0;0;100 30.556 False ENSG00000009709 ENSG00000009709 HGNC:8621 PAX9 gene PAX9 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tooth agenesis, selective, 3, 604625 False 1 50;0;50 30.556 False ENSG00000198807 ENSG00000198807 HGNC:8623 PBRM1 gene PBRM1 Expert Review Red Childhood onset leukodystrophy Neurology False 1 0;0;100 30.556 False ENSG00000163939 ENSG00000163939 HGNC:30064 PCBD1 gene PCBD1 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D 9585615;8352282 False 1 25;50;25 30.556 False ENSG00000166228 ENSG00000166228 HGNC:8646 PCDH10 gene PCDH10 Victorian Clinical Genetics Services;Expert Review Red Childhood onset leukodystrophy Neurology False 1 0;0;100 30.556 False ENSG00000138650 ENSG00000138650 HGNC:13404 PCDH12 gene PCDH12 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal microcephaly;intellectual disability;perithalamic hyperechogenicity;hypothalamic abnormalities;periventricular hyperechogenicity;epilepsy;midbrain abnormalities 27164683 False 1 0;0;0 30.556 False ENSG00000113555 ENSG00000113555 HGNC:8657 PCLO gene PCLO Victorian Clinical Genetics Services;Literature Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 3 25832664 False 1 0;100;0 30.556 False ENSG00000186472 ENSG00000186472 HGNC:13406 PCYT1A gene PCYT1A Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 False 1 50;0;50 30.556 False ENSG00000161217 ENSG00000161217 HGNC:8754 PCYT2 gene PCYT2 Literature Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Global developmental delay;Developmental regression;Intellectual disability;Spastic paraparesis;Seizures;Spastic tetraparesis;Cerebral atrophy;Cerebellar atrophy 31637422;17325045;22764088 False 1 100;0;0 30.556 False ENSG00000185813 ENSG00000185813 HGNC:8756 PDCD10 gene PDCD10 Expert Review Red Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CEREBRAL CAVERNOUS MALFORMATIONS TYPE 3 (CCM3) 0 False 1 25;50;25 30.556 False ENSG00000114209 ENSG00000114209 HGNC:8761 PDE6G gene PDE6G Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 57, 613582 False 1 50;0;50 30.556 False ENSG00000185527 ENSG00000185527 HGNC:8789 PDGFB gene PDGFB Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Meningioma, SIS-related, 607174; Dermatofibrosarcoma protuberans, 607907; Basal ganglia calcification, idiopathic, 5, 615483 False 1 50;0;50 30.556 False ENSG00000100311 ENSG00000100311 HGNC:8800 PDK1 gene PDK1 Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology No OMIM phenotype False 1 100;0;0 30.556 False ENSG00000152256 ENSG00000152256 HGNC:8809 PDK1 gene PDK1 Expert Review Red;London North GLH;NHS GMS Childhood onset leukodystrophy Neurology Unknown No OMIM phenotype;Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) 27604308 False 1 50;0;50 30.556 False ENSG00000152256 ENSG00000152256 HGNC:8809 PDK2 gene PDK2 London North GLH;NHS GMS;Expert Review Red Childhood onset leukodystrophy Neurology Unknown No OMIM phenotype;Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) 27604308 False 1 0;50;50 30.556 False ENSG00000005882 ENSG00000005882 HGNC:8810 PDK2 gene PDK2 Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology No OMIM phenotype False 1 0;100;0 30.556 False ENSG00000005882 ENSG00000005882 HGNC:8810 PDK3 gene PDK3 Victorian Clinical Genetics Services;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) ?Charcot-Marie-Tooth disease, X-linked dominant, 6, 300905 23297365;26801680;27388934;28902413;32504000;34387338 False 1 33;33;33 30.556 False ENSG00000067992 ENSG00000067992 HGNC:8811 PDK4 gene PDK4 Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology No OMIM phenotype False 1 0;100;0 30.556 False ENSG00000004799 ENSG00000004799 HGNC:8812 PDK4 gene PDK4 London North GLH;NHS GMS;Expert Review Red Childhood onset leukodystrophy Neurology Unknown No OMIM phenotype;Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) 27604308 False 1 0;50;50 30.556 False ENSG00000004799 ENSG00000004799 HGNC:8812 PDP2 gene PDP2 London North GLH;NHS GMS;Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) 27604308 False 1 0;33;67 30.556 False ENSG00000172840 ENSG00000172840 HGNC:30263 PDP2 gene PDP2 Expert Review;Other Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal False 1 0;50;50 30.556 False ENSG00000172840 ENSG00000172840 HGNC:30263 PDPR gene PDPR Expert Review Red;Expert Review;Literature Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal 25558065 False 1 50;50;0 30.556 False ENSG00000090857 ENSG00000090857 HGNC:30264 PDPR gene PDPR Expert Review Red;London North GLH;NHS GMS Childhood onset leukodystrophy Neurology Unknown Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) 27604308;25558065 False 1 33;33;33 30.556 False ENSG00000090857 ENSG00000090857 HGNC:30264 PDXK gene PDXK London North GLH;NHS GMS;Expert Review Red Childhood onset leukodystrophy Neurology Unknown Pryridoxal kinase deficiency (Disorders of pyridoxine metabolism) 27604308 False 1 0;0;100 30.556 False ENSG00000160209 ENSG00000160209 HGNC:8819 PDYN gene PDYN Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 23, 610245 False 1 50;0;50 30.556 False ENSG00000101327 ENSG00000101327 HGNC:8820 PECR gene PECR Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;0;100 30.556 False ENSG00000115425 ENSG00000115425 HGNC:18281 PET117 gene PET117 Expert Review Red;Expert list Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 19, OMIM:619063 28386624 False 1 0;0;0 30.556 False ENSG00000232838 ENSG00000232838 HGNC:40045 PEX11A gene PEX11A Expert Review Red;Literature Childhood onset leukodystrophy Neurology Unknown Zellweger syndrome;peroxisome proliferation;mild peroxisomal biogenesis defect 25177298;10716247;25608554;11839773 False 1 0;0;100 30.556 False ENSG00000166821 ENSG00000166821 HGNC:8852 PGM1 gene PGM1 Expert Review Red;Victorian Clinical Genetics Services;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type It, 614921 False 1 50;0;50 30.556 False ENSG00000079739 ENSG00000079739 HGNC:8905 PGRMC1 gene PGRMC1 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 33867527;23783460 False 1 0;0;100 30.556 False ENSG00000101856 ENSG00000101856 HGNC:16090 PHC1 gene PHC1 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Microcephaly 11, primary, autosomal recessive, 615414; MCPH11; Intellectural disability 23418308;25558065 False 1 0;0;100 30.556 False ENSG00000111752 ENSG00000111752 HGNC:3182 PHF10 gene PHF10 Expert Review Red Childhood onset leukodystrophy Neurology False 1 0;0;100 30.556 False ENSG00000130024 ENSG00000130024 HGNC:18250 PHGDH gene PHGDH Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Phosphoglycerate dehydrogenase deficiency, MIM#601815 False 1 0;0;0 30.556 False ENSG00000092621 ENSG00000092621 HGNC:8923 PHKA1 gene PHKA1 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) False 1 0;0;100 30.556 False ENSG00000067177 ENSG00000067177 HGNC:8925 PHKA2 gene PHKA2 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000044446 ENSG00000044446 HGNC:8926 PHKG1 gene PHKG1 Expert Review Red Childhood onset leukodystrophy Neurology Unknown False 1 0;0;100 30.556 False ENSG00000164776 ENSG00000164776 HGNC:8930 PHKG2 gene PHKG2 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000156873 ENSG00000156873 HGNC:8931 PHOX2B gene PHOX2B Expert Review Red Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE 12640453 False 1 25;50;25 30.556 False ENSG00000109132 ENSG00000109132 HGNC:9143 PHYKPL gene PHYKPL London North GLH;NHS GMS;Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Hydroxylysinuria (Disorders of histidine, tryptophan or lysine metabolism);[?Phosphohydroxylysinuria] 615011 27604308 False 1 0;0;100 30.556 False ENSG00000175309 ENSG00000175309 HGNC:28249 PIEZO2 gene PIEZO2 Victorian Clinical Genetics Services;Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Gene2Phenotype confirmed gene with ID HPO False 1 100;0;0 30.556 False ENSG00000154864 ENSG00000154864 HGNC:26270 PIGF gene PIGF Expert Review Red;Literature Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol deficiency, onychodystrophy, osteodystrophy, intellectual disability, and seizures 33386993 False 1 0;0;100 30.556 False ENSG00000151665 ENSG00000151665 HGNC:8962 PIGY gene PIGY Victorian Clinical Genetics Services;Literature Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 6 26293662 False 1 0;100;0 30.556 False ENSG00000255072 ENSG00000255072 HGNC:28213 PIK3C3 gene PIK3C3 Expert Review Red Childhood onset leukodystrophy Neurology False 1 0;0;100 30.556 False ENSG00000078142 ENSG00000078142 HGNC:8974 PIK3R1 gene PIK3R1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Agammaglobulinemia 7, autosomal recessive, 615214; SHORT; syndrome, 269880; Immunodeficiency 36, 616005 False 1 50;0;50 30.556 False Other - please provide details in the comments ENSG00000145675 ENSG00000145675 HGNC:8979 PIN4 gene PIN4 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) False 1 0;0;100 30.556 False ENSG00000102309 ENSG00000102309 HGNC:8992 PINK1 gene PINK1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Parkinson disease 6, early onset, 605909 False 1 50;0;50 30.556 False ENSG00000158828 ENSG00000158828 HGNC:14581 PITX2 gene PITX2 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Axenfeld-Rieger syndrome, type 1, 180500;Iridogoniodysgenesis, type 2, 137600;Ring dermoid of cornea, 180550;Peters anomaly, 604229 False 1 50;0;50 30.556 False ENSG00000164093 ENSG00000164093 HGNC:9005 PITX3 gene PITX3 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Anterior segment mesenchymal dysgenesis, 107250; Cataract 11, multiple types, 610623; Cataract 11, syndromic, 610623 False 1 50;0;50 30.556 False ENSG00000107859 ENSG00000107859 HGNC:9006 PKD1L1 gene PKD1L1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Laterality defects False 1 50;0;50 30.556 False ENSG00000158683 ENSG00000158683 HGNC:18053 PKHD1 gene PKHD1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Polycystic kidney disease 4 with or without hepatic disease, OMIM:263200 False 1 50;0;50 30.556 False ENSG00000170927 ENSG00000170927 HGNC:9016 PLCE1 gene PLCE1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 3, 610725 False 1 50;0;50 30.556 False ENSG00000138193 ENSG00000138193 HGNC:17175 PLCXD1 gene PLCXD1 Expert Review Red Childhood onset leukodystrophy Neurology Unknown False 1 0;0;100 30.556 False ENSG00000182378 ENSG00000182378 HGNC:23148 PLEC gene PLEC Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive, OMIM:616487;Epidermolysis bullosa simplex 5A, Ogna type, OMIM:131950;Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670;Epidermolysis bullosa simplex 5C, with pyloric atresia, OMIM:612138;Muscular dystrophy, limb-girdle, autosomal recessive 17, OMIM:613723 False 1 50;0;50 30.556 False ENSG00000178209 ENSG00000178209 HGNC:9069 PLEKHG1 gene PLEKHG1 Literature Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic diplegia and psychomotor developmental delay 39202455;30659137 False 1 0;0;100 30.556 False ENSG00000120278 ENSG00000120278 HGNC:20884 PLOD1 gene PLOD1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Gene2Phenotype confirmed gene with ID HPO False 1 100;0;0 30.556 False ENSG00000083444 ENSG00000083444 HGNC:9081 PLOD2 gene PLOD2 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Bruck syndrome 2, 609220 False 1 50;0;50 30.556 False ENSG00000152952 ENSG00000152952 HGNC:9082 PLOD3 gene PLOD3 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Lysyl hydroxylase 3 deficiency, 612394 18834968 False 1 0;0;100 30.556 False ENSG00000106397 ENSG00000106397 HGNC:9083 PLXNB3 gene PLXNB3 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 16152637 False 1 0;0;100 30.556 False ENSG00000198753 ENSG00000198753 HGNC:9105 PMP22 gene PMP22 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot-Marie-Tooth disease, type 1A, 118220; Dejerine-Sottas; disease, 145900; Neuropathy, recurrent, with pressure palsies, 162500; Charcot-Marie-Tooth disease, type 1E, 118300; Roussy-Levy syndrome, 180800; Neuropathy, inflammatory demyelinating, 139393 False 1 50;0;50 30.556 False ENSG00000109099 ENSG00000109099 HGNC:9118 PMP22 gene PMP22 Expert Review Red Childhood onset leukodystrophy Neurology Unknown Neuropathy,inflammatory demyelinating,139393 False 1 0;0;0 30.556 False ENSG00000109099 ENSG00000109099 HGNC:9118 PMS2 gene PMS2 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Mismatch repair cancer syndrome, 276300;Colorectal cancer, hereditary nonpolyposis, type 4, 614337 False 1 50;0;50 30.556 False ENSG00000122512 ENSG00000122512 HGNC:9122 PNKD gene PNKD Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Paroxysmal nonkinesigenic dyskinesia, 118800 False 1 50;0;50 30.556 False ENSG00000127838 ENSG00000127838 HGNC:9153 PNLIP gene PNLIP London North GLH;NHS GMS;Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Pancreatic triacylglycerol lipase deficiency (Other disorders of lipid and lipoprotein metabolism);Pancreatic lipase deficiency 614338 27604308 False 1 0;0;100 30.556 False ENSG00000175535 ENSG00000175535 HGNC:9155 PNP gene PNP Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 False 1 0;0;100 30.556 False ENSG00000198805 ENSG00000198805 HGNC:7892 PNPLA4 gene PNPLA4 Expert Review Red Childhood onset leukodystrophy Neurology Unknown False 1 0;0;100 30.556 False ENSG00000006757 ENSG00000006757 HGNC:24887 PNPLA4 gene PNPLA4 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;100 30.556 False ENSG00000006757 ENSG00000006757 HGNC:24887 POC1A gene POC1A Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813; SOFT syndrome 22840364;22840363;22440536 False 1 25;0;75 30.556 False ENSG00000164087 ENSG00000164087 HGNC:24488 POC1B gene POC1B Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 20, 615973 False 1 50;0;50 30.556 False ENSG00000139323 ENSG00000139323 HGNC:30836 POGLUT1 gene POGLUT1 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000163389 ENSG00000163389 HGNC:22954 POLD1 gene POLD1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Colorectal cancer, susceptibility to, 10}, 612591;Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 False 1 50;0;50 30.556 False Other - please provide details in the comments ENSG00000062822 ENSG00000062822 HGNC:9175 POLH gene POLH Expert Review Red;NHS GMS Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, variant type, OMIM:278750 23755135;23651273;24260050;27004399;25256075;27664908;24877075;24130121;25128761 False 1 0;0;100 30.556 False ENSG00000170734 ENSG00000170734 HGNC:9181 POLR1A gene POLR1A Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal 28051070 False 1 0;0;0 30.556 False ENSG00000068654 ENSG00000068654 HGNC:17264 POLR1D gene POLR1D Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Treacher Collins syndrome 2, OMIM:613717 False 1 50;0;50 30.556 False ENSG00000186184 ENSG00000186184 HGNC:20422 POP1 gene POP1 Expert Review Red Childhood onset leukodystrophy Neurology Unknown False 1 0;100;0 30.556 False ENSG00000104356 ENSG00000104356 HGNC:30129 POP1 gene POP1 Expert Childhood onset leukodystrophy Neurology False 1 0;100;0 30.556 False ENSG00000104356 ENSG00000104356 HGNC:30129 PPA2 gene PPA2 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Sudden arrhythmic cardiac death after infectious or alcohol trigger False 1 50;0;50 30.556 False Other - please provide details in the comments ENSG00000138777 ENSG00000138777 HGNC:28883 PPM1B gene PPM1B London North GLH;NHS GMS;Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Hypotonia-cystinuria syndrome (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308;15913950;11524703 False 1 0;0;100 30.556 False ENSG00000138032 ENSG00000138032 HGNC:9276 PPM1K gene PPM1K Expert Review Red Childhood onset leukodystrophy Neurology Unknown ?Maple syrup urine disease, mild variant 615135 False 1 0;0;100 30.556 False ENSG00000163644 ENSG00000163644 HGNC:25415 PPP1R1B gene PPP1R1B Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000131771 ENSG00000131771 HGNC:9287 PPT1 gene PPT1 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 1, MIM#256730 False 1 0;0;0 30.556 False ENSG00000131238 ENSG00000131238 HGNC:9325 PRDM12 gene PRDM12 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory and autonomic, type VIII OMIM:616488;congenital insensitivity to pain-hypohidrosis syndrome MONDO:0014662 28050684;34646120 False 1 50;0;50 30.556 False ENSG00000130711 ENSG00000130711 HGNC:13997 PRDX4 gene PRDX4 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) False 1 0;0;100 30.556 False ENSG00000123131 ENSG00000123131 HGNC:17169 PREPL gene PREPL London North GLH;NHS GMS;Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Hypotonia-cystinuria syndrome 606407;Hypotonia-cystinuria syndrome (Disorders of amino acid transport) 27604308 False 1 0;0;100 30.556 False ENSG00000138078 ENSG00000138078 HGNC:30228 PREPL gene PREPL Victorian Clinical Genetics Services;Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Hypotonia-cystinuria syndrome, 606407;HCS;2p21 deletion syndrome;Intellectual disability 18234729;16385448;24610330 False 1 0;0;100 30.556 False ENSG00000138078 ENSG00000138078 HGNC:30228 PRF1 gene PRF1 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal 23443029 False 1 0;0;0 30.556 False ENSG00000180644 ENSG00000180644 HGNC:9360 PRICKLE1 gene PRICKLE1 Victorian Clinical Genetics Services;Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1B, OMIM:612437 False 1 50;0;50 30.556 False ENSG00000139174 ENSG00000139174 HGNC:17019 PRICKLE3 gene PRICKLE3 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) False 1 0;0;100 30.556 False ENSG00000012211 ENSG00000012211 HGNC:6645 PRKAR1A gene PRKAR1A Victorian Clinical Genetics Services;Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Acrodysostosis 1, with or without hormone resistance, OMIM:101800 False 1 50;50;0 30.556 False Other - please provide details in the comments ENSG00000108946 ENSG00000108946 HGNC:9388 PRKCG gene PRKCG Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 14, 605361 15313841 False 1 50;0;50 30.556 False ENSG00000126583 ENSG00000126583 HGNC:9402 PRKN gene PRKN Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Parkinson disease, juvenile, type 2, 600116; Adenocarcinoma of lung, somatic, 211980; Adenocarcinoma, ovarian, somatic, 167000; {Leprosy, susceptibility to}, 607572 False 1 50;0;50 30.556 False ENSG00000185345 ENSG00000185345 HGNC:8607 PRKRA gene PRKRA Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Dystonia 16, 612067 False 1 50;0;50 30.556 False ENSG00000180228 ENSG00000180228 HGNC:9438 PROP1 gene PROP1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Pituitary hormone deficiency, combined, 2, 262600 False 1 50;0;50 30.556 False ENSG00000175325 ENSG00000175325 HGNC:9455 PROX2 gene PROX2 Expert Review Red Childhood onset leukodystrophy Neurology False 1 0;0;100 30.556 False ENSG00000119608 ENSG00000119608 HGNC:26715 PRRG1 gene PRRG1 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) False 1 0;0;100 30.556 False ENSG00000130962 ENSG00000130962 HGNC:9469 PRRG3 gene PRRG3 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) False 1 0;0;100 30.556 False ENSG00000130032 ENSG00000130032 HGNC:30798 PRSS56 gene PRSS56 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Microphthalmia, isolated 6, 613517 False 1 50;0;50 30.556 False ENSG00000237412 ENSG00000237412 HGNC:39433 PRX gene PRX Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4F, OMIM:614895;Dejerine-Sottas disease, OMIM:145900 False 1 50;0;50 30.556 False ENSG00000105227 ENSG00000105227 HGNC:13797 PSAT1 gene PSAT1 Victorian Clinical Genetics Services;Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Phosphoserine aminotransferase deficiency, OMIM:610992;Neu-Laxova syndrome 2, OMIM:616038 26960553;17436247;25152457 False 1 0;75;25 30.556 False ENSG00000135069 ENSG00000135069 HGNC:19129 PSEN1 gene PSEN1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Alzheimer disease, type 3, 607822; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822; Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822; Dementia, frontotemporal, 600274; Pick disease, 172700 26503795;26539891 False 1 50;0;50 30.556 False ENSG00000080815 ENSG00000080815 HGNC:9508 PSMA7 gene PSMA7 Expert Review Red Childhood onset leukodystrophy Neurology False 1 0;0;100 30.556 False ENSG00000101182 ENSG00000101182 HGNC:9536 PSMD10 gene PSMD10 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) False 1 0;0;100 30.556 False ENSG00000101843 ENSG00000101843 HGNC:9555 PTCD1 gene PTCD1 Expert Review Red Childhood onset leukodystrophy Neurology Unknown Multiple respiratory chain complex deficiencies (disorders of protein synthesis) False 1 0;100;0 30.556 False ENSG00000106246 ENSG00000106246 HGNC:22198 PTCD1 gene PTCD1 Expert list Childhood onset leukodystrophy Neurology Multiple respiratory chain complex deficiencies (disorders of protein synthesis) False 1 0;100;0 30.556 False ENSG00000106246 ENSG00000106246 HGNC:22198 PTPN21 gene PTPN21 Expert Review Red Childhood onset leukodystrophy Neurology False 1 0;0;100 30.556 False ENSG00000070778 ENSG00000070778 HGNC:9651 PTPRZ1 gene PTPRZ1 London North GLH;NHS GMS;Expert Review Red Childhood onset leukodystrophy Neurology Unknown Hyperlysinaemia (Disorders of histidine, tryptophan or lysine metabolism);{H. pylori infection, susceptibility to} 600263 27604308 False 1 0;0;100 30.556 False ENSG00000106278 ENSG00000106278 HGNC:9685 PTRH2 gene PTRH2 Expert list Childhood onset leukodystrophy Neurology Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 616263 29903433;28328138;31057140;25558065 False 1 0;0;100 30.556 False ENSG00000141378 ENSG00000141378 HGNC:24265 PUDP gene PUDP Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) False 1 0;0;100 30.556 False ENSG00000130021 ENSG00000130021 HGNC:16818 PYCR1 gene PYCR1 Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIB, 612940;Cutis laxa, autosomal recessive, type IIIB, 614438 False 1 50;0;50 30.556 True ENSG00000183010 ENSG00000183010 HGNC:9721 PYGL gene PYGL Expert Review Red;Victorian Clinical Genetics Services;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease VI, 232700 False 1 50;0;50 30.556 False ENSG00000100504 ENSG00000100504 HGNC:9725 QKI gene QKI Expert Review Red Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted INTELLECTUAL DISABILITY 20082458 False 1 0;0;100 30.556 False ENSG00000112531 ENSG00000112531 HGNC:21100 RAB27A gene RAB27A Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology Griscelli syndrome, type 2, 607624 False 1 0;0;100 30.556 False ENSG00000069974 ENSG00000069974 HGNC:9766 RAB40AL gene RAB40AL Victorian Clinical Genetics Services;Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked, syndromic, Martin-Probst type, 300519 11073537;22581972;24863632;25044830; 25370018;26300074 False 1 0;0;100 30.556 False ENSG00000102128 ENSG00000102128 HGNC:25410 RABL6 gene RABL6 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 26748598;21937992 False 1 0;0;100 30.556 False ENSG00000196642 ENSG00000196642 HGNC:24703 RAD50 gene RAD50 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Nijmegen breakage syndrome-like disorder, OMIM:613078 1887849;19409520;32212377;33378670 False 1 0;20;80 30.556 False ENSG00000113522 ENSG00000113522 HGNC:9816 RAD51C gene RAD51C Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal FANCONI ANEMIA, COMPLEMENTATION GROUP 0 20400963 False 1 0;67;33 30.556 False ENSG00000108384 ENSG00000108384 HGNC:9820 RALGDS gene RALGDS Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;0;100 30.556 False ENSG00000160271 ENSG00000160271 HGNC:9842 RANBP17 gene RANBP17 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000204764 ENSG00000204764 HGNC:14428 RANBP2 gene RANBP2 Expert Review Red Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "{Encephalopathy, acute, infection-induced, 3, susceptibility to} 608033" 19118815 False 1 0;0;100 30.556 False ENSG00000153201 ENSG00000153201 HGNC:9848 RAPGEF1 gene RAPGEF1 Expert Review Red Childhood onset leukodystrophy Neurology False 1 0;0;100 30.556 False ENSG00000107263 ENSG00000107263 HGNC:4568 RAPSN gene RAPSN Victorian Clinical Genetics Services;Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326 15286164;12651869;22678886 False 1 25;50;25 30.556 False ENSG00000165917 ENSG00000165917 HGNC:9863 RASA1 gene RASA1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Parkes Weber syndrome, 608355;Capillary; malformation-arteriovenous malformation, 608354;Basal cell carcinoma, somatic, 605462 False 1 33;0;67 30.556 False ENSG00000145715 ENSG00000145715 HGNC:9871 RBFOX1 gene RBFOX1 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000078328 ENSG00000078328 HGNC:18222 RBM28 gene RBM28 Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Alopecia, neurologic defects, and endocrinopathy syndrome,612079; Intellectual disability 18439547;20231366 False 1 0;0;100 30.556 False ENSG00000106344 ENSG00000106344 HGNC:21863 RBM8A gene RBM8A Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Gene2Phenotype confirmed gene with ID HPO False 1 100;0;0 30.556 False ENSG00000131795 ENSG00000265241 HGNC:9905 RECQL4 gene RECQL4 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Gene2Phenotype confirmed gene with ID HPO False 1 100;0;0 30.556 False ENSG00000160957 ENSG00000160957 HGNC:9949 REEP1 gene REEP1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 31, autosomal dominant, 610250; ?Neuronopathy, distal hereditary motor, type VB, 614751 False 1 50;0;50 30.556 False ENSG00000068615 ENSG00000068615 HGNC:25786 REEP2 gene REEP2 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Spastic paraplegia 72, autosomal recessive, 615625; ?Spastic paraplegia 72, autosomal dominant, 615625 24388663 False 1 50;0;50 30.556 False ENSG00000132563 ENSG00000132563 HGNC:17975 RELN gene RELN Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Lissencephaly, Recessive;Lissencephaly 2;Lissencephaly 2 (Norman-Roberts type), 257320 False 1 0;0;0 30.556 False ENSG00000189056 ENSG00000189056 HGNC:9957 RENBP gene RENBP Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) False 1 0;0;100 30.556 False ENSG00000102032 ENSG00000102032 HGNC:9959 RET gene RET Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Gene2Phenotype both DD and IF gene with ID HPO False 1 100;0;0 30.556 False ENSG00000165731 ENSG00000165731 HGNC:9967 RETREG1 gene RETREG1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory and autonomic, type IIB, 613115 False 1 50;0;50 30.556 False ENSG00000154153 ENSG00000154153 HGNC:25964 RFX6 gene RFX6 Victorian Clinical Genetics Services;Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Mitchell-Riley syndrome, 615710 False 1 50;0;50 30.556 False ENSG00000185002 ENSG00000185002 HGNC:21478 RGN gene RGN Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) False 1 0;0;100 30.556 False ENSG00000130988 ENSG00000130988 HGNC:9989 RGS7 gene RGS7 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;0;100 30.556 False ENSG00000182901 ENSG00000182901 HGNC:10003 RIMS1 gene RIMS1 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000079841 ENSG00000079841 HGNC:17282 RING1 gene RING1 Literature Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown microcephaly;intellectual disability 29386386 False 1 0;0;100 30.556 False ENSG00000204227 ENSG00000204227 HGNC:10018 RIPK4 gene RIPK4 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Popliteal pterygium syndrome 2, lethal type, 263650 False 1 50;0;50 30.556 False ENSG00000183421 ENSG00000183421 HGNC:496 RNF113A gene RNF113A Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Trichothiodystrophy 5, nonphotosensitive, OMIM:300953 25612912 False 1 0;0;0 30.556 False ENSG00000125352 ENSG00000125352 HGNC:12974 RNF135 gene RNF135 Expert Review Red;Victorian Clinical Genetics Services;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Macrocephaly, macrosomia, facial dysmorphism syndrome, 614192 25529582;30665703;17632510;26368817 False 1 50;0;50 30.556 False ENSG00000181481 ENSG00000181481 HGNC:21158 RNF168 gene RNF168 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal RIDDLE syndrome, 611943;Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome 21394101;17940005 False 1 0;0;100 30.556 False ENSG00000163961 ENSG00000163961 HGNC:26661 RNF216 gene RNF216 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia and hypogonadotropic hypogonadism, 212840; Gordon Holmes syndrome False 1 50;0;50 30.556 False ENSG00000011275 ENSG00000011275 HGNC:21698 RNU5A-1 gene RNU5A-1 Expert Review Red;Literature Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder, MONDO:0700092 40379786 False 1 0;0;0 30.556 False ENSG00000199568 ENSG00000199568 HGNC:10211 ROBO3 gene ROBO3 Expert Review Red;Literature Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 15105459; 16525029 False 1 67;0;33 30.556 False ENSG00000154134 ENSG00000154134 HGNC:13433 ROBO3 gene ROBO3 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 16525029;15105459 False 1 67;0;33 30.556 False ENSG00000154134 ENSG00000154134 HGNC:13433 ROBO3 gene ROBO3 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Gaze palsy, horizontal, with progressive scoliosis, 607313 False 1 33;0;67 30.556 False ENSG00000154134 ENSG00000154134 HGNC:13433 ROR2 gene ROR2 NHS GMS;Expert Review Red Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Brachydactyly, type B1, OMIM:113000 (AD);Robinow syndrome, autosomal recessive, OMIM:268310 (AR) 10986040;10700182;19461659;19533773 False 1 20;40;40 30.556 False ENSG00000169071 ENSG00000169071 HGNC:10257 RORB gene RORB Literature Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Epilepsy, idiopathic generalized, susceptibility to, 15}, OMIM:618357 27352968;24355400 False 1 0;0;100 30.556 False ENSG00000198963 ENSG00000198963 HGNC:10259 RPE65 gene RPE65 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 2, 204100;Retinitis pigmentosa 20, 613794 False 1 50;0;50 30.556 False ENSG00000116745 ENSG00000116745 HGNC:10294 RPGR gene RPGR Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) False 1 0;0;100 30.556 False ENSG00000156313 ENSG00000156313 HGNC:10295 RPGRIP1 gene RPGRIP1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 6, 613826;Cone-rod dystrophy 13, 608194 False 1 50;0;50 30.556 False ENSG00000092200 ENSG00000092200 HGNC:13436 RPS19 gene RPS19 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anemia 1, 105650 False 1 50;0;50 30.556 False ENSG00000105372 ENSG00000105372 HGNC:10402 RRAS gene RRAS Expert Review Red Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Atypical Noonan syndrome; Noonan syndrome-like 24705357 False 1 0;67;33 30.556 False ENSG00000126458 ENSG00000126458 HGNC:10447 RSPH1 gene RSPH1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 24, 615481 False 1 50;0;50 30.556 False ENSG00000160188 ENSG00000160188 HGNC:12371 RSPH3 gene RSPH3 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal NA False 1 50;0;50 30.556 False ENSG00000130363 ENSG00000130363 HGNC:21054 RSPO4 gene RSPO4 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Anonychia congenita, 206800 False 1 50;0;50 30.556 False ENSG00000101282 ENSG00000101282 HGNC:16175 RTL9 gene RTL9 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) False 1 0;0;100 30.556 False ENSG00000243978 ENSG00000243978 HGNC:29245 RTN2 gene RTN2 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 12, autosomal dominant, 604805 22232211 False 1 50;0;50 30.556 False ENSG00000125744 ENSG00000125744 HGNC:10468 RUBCN gene RUBCN Other;Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 15, OMIM:615705 20826435;23728897;32450808 False 1 0;0;100 30.556 False ENSG00000145016 ENSG00000145016 HGNC:28991 RUNX2 gene RUNX2 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cleidocranial dysplasia, 119600;Cleidocranial dysplasia, forme; fruste, with brachydactyly, 119600;Cleidocranial dysplasia, forme fruste, dental anomalies only, 119600;Metaphyseal dysplasia with maxillary; hypoplasia with or without brachydactyly, 156510 False 1 50;0;50 30.556 False ENSG00000124813 ENSG00000124813 HGNC:10472 RYR1 gene RYR1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Gene2Phenotype confirmed gene with ID HPO False 1 100;0;0 30.556 False ENSG00000196218 ENSG00000196218 HGNC:10483 RYR3 gene RYR3 Expert Review Red Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted EPILEPTIC ENCEPHALOPATHY 25262651 False 1 0;0;100 30.556 False ENSG00000198838 ENSG00000198838 HGNC:10485 SALL4 gene SALL4 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Duane-radial ray syndrome, 607323;IVIC syndrome, 147750 False 1 50;0;50 30.556 False ENSG00000101115 ENSG00000101115 HGNC:15924 SAMD9L gene SAMD9L Expert Review Red;Literature Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability, MONDO:0001071 33710394 False 1 0;0;100 30.556 False ENSG00000177409 ENSG00000177409 HGNC:1349 SAMHD1 gene SAMHD1 Expert Review Red;Expert list Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome-5 (AGS5) PMID: 19525956;25604658 False 1 50;0;50 30.556 True ENSG00000101347 ENSG00000101347 HGNC:15925 SARDH gene SARDH London North GLH;NHS GMS;Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal [Sarcosinemia] 268900;Sarcosinaemia (Disorders of serine, glycine or glycerate metabolism) 27604308 False 1 0;0;100 30.556 False ENSG00000123453 ENSG00000123453 HGNC:10536 SBDS gene SBDS Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Shwachman-Bodian-Diamond syndrome, 260400 False 1 50;0;50 30.556 False ENSG00000126524 ENSG00000126524 HGNC:19440 SBF2 gene SBF2 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4B2, 604563 False 1 50;0;50 30.556 False ENSG00000133812 ENSG00000133812 HGNC:2135 SCARB1 gene SCARB1 London North GLH;NHS GMS;Expert Review Red Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal [High density lipoprotein cholesterol level QTL6] 610762;Scavenger receptor class B type I deficiency (Inherited hypolipidaemias) 27604308 False 1 0;0;100 30.556 False ENSG00000073060 ENSG00000073060 HGNC:1664 SCARB2 gene SCARB2 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 False 1 50;0;50 30.556 False ENSG00000138760 ENSG00000138760 HGNC:1665 SCARF2 gene SCARF2 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Van den Ende-Gupta syndrome, 600920 False 1 50;0;50 30.556 False ENSG00000244486 ENSG00000244486 HGNC:19869 SCN11A gene SCN11A Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neuropathy, hereditary sensory and autonomic, type VII, 615548; Episodic pain syndrome, familial, 3, 615552 False 1 50;0;50 30.556 False Other - please provide details in the comments ENSG00000168356 ENSG00000168356 HGNC:10583 SCN2A gene SCN2A Expert Review Red Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 11;Seizures, benign familial infantile, 3 PMID:24579881 False 1 0;0;0 30.556 False ENSG00000136531 ENSG00000136531 HGNC:10588 SCN4A gene SCN4A Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hyperkalemic periodic paralysis, type 2, 170500; Paramyotonia; congenita, 168300; Myotonia congenita, atypical, acetazolamide-responsive, 608390; Myasthenic syndrome, acetazolamide-responsive, 614198; Hypokalemic periodic paralysis, type 2, 613345 False 1 50;0;50 30.556 False Other - please provide details in the comments ENSG00000007314 ENSG00000007314 HGNC:10591 SCN9A gene SCN9A Victorian Clinical Genetics Services;Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Erythermalgia, primary, 133020; Paroxysmal extreme pain disorder, 167400, Insensitivity to pain, congenital, 243000; Febrile seizures, familial, 3B, 613863; Epilepsy, generalized, with febrile seizures plus, type 7, 613863; Small fiber neuropathy, 133020; {Dravet syndrome, modifier of}, 607208; HSAN2D, autosomal recessive, 243000 False 1 50;0;50 30.556 False Other - please provide details in the comments ENSG00000169432 ENSG00000169432 HGNC:10597 SCO1 gene SCO1 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048 11013136;19295170;31352446;23878101 False 1 25;50;25 30.556 False ENSG00000133028 ENSG00000133028 HGNC:10603 SCRIB gene SCRIB Expert Review Red Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 8Q24.3 DELETION-LIKE 24140112 False 1 0;0;100 30.556 False ENSG00000180900 ENSG00000180900 HGNC:30377 SDHAF2 gene SDHAF2 Expert list;Expert;Emory Genetics Laboratory Childhood onset leukodystrophy Neurology Mitochondrial Diseases;Isolated complex II deficiency False 1 50;0;50 30.556 False ENSG00000167985 ENSG00000167985 HGNC:26034 SDHAF3 gene SDHAF3 Expert Review Red;NHS GMS Childhood onset leukodystrophy Neurology Unknown No OMIM phenotype False 1 0;50;50 30.556 False ENSG00000196636 ENSG00000196636 HGNC:21752 SDHAF4 gene SDHAF4 Expert Review Red;NHS GMS Childhood onset leukodystrophy Neurology Unknown No OMIM phenotype False 1 0;50;50 30.556 False ENSG00000154079 ENSG00000154079 HGNC:20957 SDHC gene SDHC Expert list;Expert;Emory Genetics Laboratory Childhood onset leukodystrophy Neurology Mitochondrial Diseases;Isolated complex II deficiency False 1 100;0;0 30.556 False ENSG00000143252 ENSG00000143252 HGNC:10682 SDHD gene SDHD Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex II deficiency False 1 0;0;0 30.556 False ENSG00000204370 ENSG00000204370 HGNC:10683 SEC23B gene SEC23B Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Dyserythropoietic anemia, congenital, type II, OMIM:224100 False 1 50;0;50 30.556 False ENSG00000101310 ENSG00000101310 HGNC:10702 SECISBP2 gene SECISBP2 Expert list Childhood onset leukodystrophy Neurology False 1 0;0;100 30.556 False ENSG00000187742 ENSG00000187742 HGNC:30972 SELENOI gene SELENOI Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000138018 ENSG00000138018 HGNC:29361 SEMA3E gene SEMA3E Literature Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Severe Intellectual Disability with Cognitive Regression 35628442 False 1 0;100;0 30.556 False ENSG00000170381 ENSG00000170381 HGNC:10727 SEPSECS gene SEPSECS Expert list Childhood onset leukodystrophy Neurology 29903433;29464431;20920667 False 1 0;0;100 30.556 False ENSG00000109618 ENSG00000109618 HGNC:30605 SETDB2 gene SETDB2 Expert Review Red Childhood onset leukodystrophy Neurology False 1 0;0;100 30.556 False ENSG00000136169 ENSG00000136169 HGNC:20263 SETX gene SETX Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ataxia-ocular apraxia-2, 606002; Amyotrophic lateral sclerosis; 4, juvenile, 602433 False 1 50;0;50 30.556 False Other - please provide details in the comments ENSG00000107290 ENSG00000107290 HGNC:445 SF3B4 gene SF3B4 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Gene2Phenotype confirmed gene with ID HPO False 1 100;0;0 30.556 False ENSG00000143368 ENSG00000143368 HGNC:10771 SGCA gene SGCA Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000108823 ENSG00000108823 HGNC:10805 SGCE gene SGCE Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia-11, myoclonic, 159900 29607243 False 1 50;0;50 30.556 False ENSG00000127990 ENSG00000127990 HGNC:10808 SH3PXD2B gene SH3PXD2B Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Frank-ter Haar syndrome, 249420 False 1 50;0;50 30.556 False ENSG00000174705 ENSG00000174705 HGNC:29242 SH3TC2 gene SH3TC2 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4C, 601596; Mononeuropathy of the median nerve, mild, 613353 False 1 50;0;50 30.556 False ENSG00000169247 ENSG00000169247 HGNC:29427 SHOX gene SHOX Expert Review Red Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Langer mesomelic dysplasia, OMIM:249700 (PR);Leri-Weill dyschondrosteosis, OMIM:127300 (PD);Short stature, idiopathic familial, OMIM:300582 24896178;2602357;10232745;12955766;20301394 False 1 25;50;25 30.556 False ENSG00000185960 ENSG00000185960 HGNC:10853 SHPK gene SHPK London North GLH;NHS GMS;Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Sedoheptulokinase deficiency (Other metabolic disorders);[Sedoheptulokinase deficiency] 617213 27604308 False 1 0;0;100 30.556 False ENSG00000197417 ENSG00000197417 HGNC:1492 SHROOM2 gene SHROOM2 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) False 1 0;0;100 30.556 False ENSG00000146950 ENSG00000146950 HGNC:630 SIGMAR1 gene SIGMAR1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology Other - please specify in evaluation comments Amyotrophic lateral sclerosis 16, juvenile, 614373 False 1 50;0;50 30.556 False ENSG00000147955 ENSG00000147955 HGNC:8157 SIX1 gene SIX1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brachiootic syndrome 3, 608389;Deafness, autosomal dominant 23, 605192 25529582;Version 12 ukgtn.nhs.uk False 1 50;0;50 30.556 False Other - please provide details in the comments ENSG00000126778 ENSG00000126778 HGNC:10887 SIX5 gene SIX5 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Branchiootorenal syndrome 2, OMIM:610896 25529582 False 1 50;0;50 30.556 False Other - please provide details in the comments ENSG00000177045 ENSG00000177045 HGNC:10891 SKIV2L gene SKIV2L Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Trichohepatoenteric syndrome 2, 614602 25529582;29334452 False 1 50;0;50 30.556 False ENSG00000204351 ENSG00000204351 HGNC:10898 SLC13A5 gene SLC13A5 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile 25, EIEE 25, MIM#615905 27913086 False 1 0;0;0 30.556 False ENSG00000141485 ENSG00000141485 HGNC:23089 SLC13A5 gene SLC13A5 Expert Review Red;Literature Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Plasma membrane citrate transporter deficiency;Epileptic encephalopathy;Delayed psychomotor development. PMID: 33340416 False 1 50;0;50 30.556 False ENSG00000141485 ENSG00000141485 HGNC:23089 SLC20A2 gene SLC20A2 Victorian Clinical Genetics Services;Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Basal ganglia calcification, idiopathic, 1; 13600;Idiopathic basal ganglia calcification, adult onset; Basal ganglia calcification, idiopathic, childhood onset False 1 50;0;50 30.556 False ENSG00000168575 ENSG00000168575 HGNC:10947 SLC22A4 gene SLC22A4 Expert Review Red Childhood onset leukodystrophy Neurology Unknown 24816252 False 1 0;0;100 30.556 False ENSG00000197208 ENSG00000197208 HGNC:10968 SLC22A5 gene SLC22A5 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Carnitine deficiency, systemic primary, OMIM:212140;systemic primary carnitine deficiency disease, MONDO:0008919 9916797;10425211;15714519;10480371;9700603;2235122;20027113;9634512;11058897;3974805;10051646;10545605;11261427 False 1 20;40;40 30.556 False ENSG00000197375 ENSG00000197375 HGNC:10969 SLC25A1 gene SLC25A1 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Global Cerebral Hypomyelination False 1 0;0;0 30.556 False ENSG00000100075 ENSG00000100075 HGNC:10979 SLC25A10 gene SLC25A10 Expert list Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial DNA depletion syndrome 19, OMIM:618972 29903433;29211846 False 1 0;0;100 30.556 False ENSG00000183048 ENSG00000183048 HGNC:10980 SLC25A13 gene SLC25A13 Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology Citrullinemia, adult-onset type II, 603471;Citrullinemia, type II, neonatal-onset, 605814 False 1 100;0;0 30.556 False ENSG00000004864 ENSG00000004864 HGNC:10983 SLC25A13 gene SLC25A13 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000004864 ENSG00000004864 HGNC:10983 SLC25A19 gene SLC25A19 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Microcephaly, Amish type, 607196 12185364 False 1 0;67;33 30.556 False ENSG00000125454 ENSG00000125454 HGNC:14409 SLC25A2 gene SLC25A2 London North GLH;NHS GMS;Expert Review Red Childhood onset leukodystrophy Neurology Unknown Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism) 27604308 False 1 0;0;100 30.556 False ENSG00000120329 ENSG00000120329 HGNC:22921 SLC25A20 gene SLC25A20 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY 10384384;12859414;10697964;9686371;9399886 False 1 20;40;40 30.556 False ENSG00000178537 ENSG00000178537 HGNC:1421 SLC25A22 gene SLC25A22 Expert Review Red;Radboud University Medical Center, Nijmegen;Expert Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 3, 609304 False 1 50;0;50 30.556 True ENSG00000177542 ENSG00000177542 HGNC:19954 SLC25A24 gene SLC25A24 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology Fontaine progeroid syndrome, OMIM;612289;Fontaine progeroid syndrome, MONDO:0012853 29903433;29100093;29100094 False 1 0;0;0 30.556 False ENSG00000085491 ENSG00000085491 HGNC:20662 SLC25A40 gene SLC25A40 Expert Review Red Childhood onset leukodystrophy Neurology Unknown False 1 0;100;0 30.556 False ENSG00000075303 ENSG00000075303 HGNC:29680 SLC25A40 gene SLC25A40 Expert Childhood onset leukodystrophy Neurology False 1 0;100;0 30.556 False ENSG00000075303 ENSG00000075303 HGNC:29680 SLC25A53 gene SLC25A53 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) False 1 0;0;100 30.556 False ENSG00000176274 ENSG00000269743 HGNC:31894 SLC25A6 gene SLC25A6 Expert Review Red Childhood onset leukodystrophy Neurology Unknown False 1 0;0;100 30.556 False ENSG00000169100 ENSG00000169100 HGNC:10992 SLC26A6 gene SLC26A6 Literature Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Enteric hyperoxaluria and nephrolithiasis 35115415 False 1 0;0;0 30.556 False ENSG00000225697 ENSG00000225697 HGNC:14472 SLC26A9 gene SLC26A9 Expert Review Red Childhood onset leukodystrophy Neurology False 1 0;0;100 30.556 False ENSG00000174502 ENSG00000174502 HGNC:14469 SLC27A5 gene SLC27A5 London North GLH;NHS GMS;Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Bile acid CoA ligase deficiency (Disorders of bile acid biosynthesis) 27604308 False 1 0;0;100 30.556 False ENSG00000083807 ENSG00000083807 HGNC:10999 SLC2A10 gene SLC2A10 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Gene2Phenotype confirmed gene with ID HPO False 1 100;0;0 30.556 False ENSG00000197496 ENSG00000197496 HGNC:13444 SLC31A1 gene SLC31A1 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;0;100 30.556 False ENSG00000136868 ENSG00000136868 HGNC:11016 SLC33A1 gene SLC33A1 Expert list Childhood onset leukodystrophy Neurology Congenital cataracts, hearing loss, and neurodegeneration 614482;Spastic paraplegia 42, autosomal dominant 612539 29903433 False 1 0;0;100 30.556 False ENSG00000169359 ENSG00000169359 HGNC:95 SLC35A3 gene SLC35A3 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, impaired intellectual development, and seizures, OMIM:615553 24031089 False 1 0;0;0 30.556 False ENSG00000117620 ENSG00000117620 HGNC:11023 SLC35F1 gene SLC35F1 Expert Review Red;Literature Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neruodevelopmental disorder, MONDO:0700092, SLC35F1-associated;Rett-like syndrome 33821533 False 1 0;0;100 30.556 False ENSG00000196376 ENSG00000196376 HGNC:21483 SLC36A2 gene SLC36A2 London North GLH;NHS GMS;Expert Review Red Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Iminoglycinuria, digenic 242600;Hyperglycinuria 138500;Hyperglycinuria AR 27604308;19033659 False 1 0;0;0 30.556 False ENSG00000186335 ENSG00000186335 HGNC:18762 SLC39A8 gene SLC39A8 Expert list Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIn, OMIM:616721;SLC39A8-CDG, MONDO:0014746 29903433;29453449;27995398 False 1 0;50;50 30.556 False ENSG00000138821 ENSG00000138821 HGNC:20862 SLC44A1 gene SLC44A1 Expert list Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal mild ID, macrocephaly, acanthosis nigricans, accessory mamilla, muscular hypotonia, frontotemporal cerebral atrophy 29903433;28097321 False 1 0;0;100 30.556 False ENSG00000070214 ENSG00000070214 HGNC:18798 SLC52A1 gene SLC52A1 Expert Review Red Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Riboflavin deficiency 615026 21089064 False 1 0;0;100 30.556 False ENSG00000132517 ENSG00000132517 HGNC:30225 SLC52A3 gene SLC52A3 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Brown-Vialetto-Van Laere syndrome 1, 211530 21110228;16122634;20920669;20206331 False 1 25;50;25 30.556 False ENSG00000101276 ENSG00000101276 HGNC:16187 SLC5A2 gene SLC5A2 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000140675 ENSG00000140675 HGNC:11037 SLC6A20 gene SLC6A20 NHS GMS;Expert Review Red Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperglycinuria 24816252;19033659 False 1 0;0;100 30.556 False ENSG00000163817 ENSG00000163817 HGNC:30927 SLC6A4 gene SLC6A4 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000108576 ENSG00000108576 HGNC:11050 SLC6A5 gene SLC6A5 Expert Review Red Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal hyperekplexia (MIM:614618) and intellectual disability 22753417 False 1 25;50;25 30.556 False ENSG00000165970 ENSG00000165970 HGNC:11051 SLC7A7 gene SLC7A7 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000155465 ENSG00000155465 HGNC:11065 SLC9A9 gene SLC9A9 Victorian Clinical Genetics Services;Expert Review Red Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {?Autism susceptibility 16}, 613410 20032819; 14569117 False 1 0;0;100 30.556 False ENSG00000181804 ENSG00000181804 HGNC:20653 SLCO1B1 gene SLCO1B1 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Hyperbilirubinemia, Rotor type, digenic 24816252;22232210 False 1 0;0;100 30.556 False ENSG00000134538 ENSG00000134538 HGNC:10959 SLCO1B3 gene SLCO1B3 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Hyperbilirubinemia, Rotor type, digenic 22232210 False 1 0;0;100 30.556 False ENSG00000111700 ENSG00000111700 HGNC:10961 SMARCAL1 gene SMARCAL1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Schimke immunoosseous dysplasia, OMIM:242900 28796785;20301550 False 1 100;0;0 30.556 False ENSG00000138375 ENSG00000138375 HGNC:11102 SMARCC1 gene SMARCC1 Expert Review Red Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 26350204 False 1 0;0;100 30.556 False ENSG00000173473 ENSG00000173473 HGNC:11104 SMARCD3 gene SMARCD3 Expert Review Red Childhood onset leukodystrophy Neurology 26350204 False 1 0;0;100 30.556 False ENSG00000082014 ENSG00000082014 HGNC:11108 SMCHD1 gene SMCHD1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 False 1 50;0;50 30.556 False ENSG00000101596 ENSG00000101596 HGNC:29090 SMO gene SMO Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Curry-Jones syndrome, somatic mosaic 601707 27236920 False 1 50;0;50 30.556 False Other - please provide details in the comments ENSG00000128602 ENSG00000128602 HGNC:11119 SNCA gene SNCA Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Parkinson disease 4, 605543; Dementia, Lewy body, 127750; Parkinson disease 1, 168601 False 1 50;0;50 30.556 False ENSG00000145335 ENSG00000145335 HGNC:11138 SNTG1 gene SNTG1 Expert Review Red Childhood onset leukodystrophy Neurology 26350204 False 1 0;0;100 30.556 False ENSG00000147481 ENSG00000147481 HGNC:13740 SNX3 gene SNX3 Expert Review Red Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP); mental retardation 12471201 False 1 0;0;100 30.556 False ENSG00000112335 ENSG00000112335 HGNC:11174 SOBP gene SOBP Victorian Clinical Genetics Services;Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal syndromic and nonsyndromic ID with psychosis; Mental retardation, anterior maxillary protrusion, and strabismus, 613671; MRAMS 21035105; 17618476 False 1 0;0;100 30.556 False ENSG00000112320 ENSG00000112320 HGNC:29256 SOX17 gene SOX17 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Vesicoureteral reflux 3, 613674 False 1 50;0;50 30.556 False Other - please provide details in the comments ENSG00000164736 ENSG00000164736 HGNC:18122 SPAG1 gene SPAG1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 28, 615505 False 1 50;0;50 30.556 False ENSG00000104450 ENSG00000104450 HGNC:11212 SPEG gene SPEG Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Centronuclear myopathy 5 ( 615959) False 1 50;0;50 30.556 False ENSG00000072195 ENSG00000072195 HGNC:16901 SPG21 gene SPG21 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Mast syndrome, 248900 14564668; 24451228; 28752238 False 1 50;0;50 30.556 False ENSG00000090487 ENSG00000090487 HGNC:20373 SPG7 gene SPG7 Expert Review Red Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 7, autosomal recessive, OMIM:607259;hereditary spastic paraplegia 7, MONDO:0011803 9635427;16534102;17646629;18200586, 20186691;22571692 False 1 0;0;0 30.556 False ENSG00000197912 ENSG00000197912 HGNC:11237 SPG7 gene SPG7 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology 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 22571692;9635427;16534102;17646629;18200586;20186691;22571692 False 1 50;0;50 30.556 False ENSG00000197912 ENSG00000197912 HGNC:11237 SPRTN gene SPRTN Expert Review Red;Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000010072 ENSG00000010072 HGNC:25356 SPRY3 gene SPRY3 Expert Review Red Childhood onset leukodystrophy Neurology Unknown 26350204 False 1 0;0;100 30.556 False ENSG00000168939 ENSG00000168939 HGNC:11271 SPTLC1 gene SPTLC1 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000090054 ENSG00000090054 HGNC:11277 SPTLC2 gene SPTLC2 Expert Review Red Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neuropathy, hereditary sensory and autonomic, type IC, 613640 26350204 False 1 25;0;75 30.556 False ENSG00000100596 ENSG00000100596 HGNC:11278 SREBF2 gene SREBF2 Expert Review Red Childhood onset leukodystrophy Neurology 26350204 False 1 0;0;100 30.556 False ENSG00000198911 ENSG00000198911 HGNC:11290 SRPX2 gene SRPX2 Victorian Clinical Genetics Services;Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females ?Rolandic epilepsy, impaired intellectual development, and speech dyspraxia, OMIM:300643 24179158;18718938;29663392;24995671;16497722;23871722;26350204 False 1 40;40;20 30.556 False ENSG00000102359 ENSG00000102359 HGNC:30668 SRRT gene SRRT Expert Review Red Childhood onset leukodystrophy Neurology Unknown Multiple respiratory chain complex deficiencies (disorders of protein synthesis) False 1 0;0;100 30.556 False ENSG00000087087 ENSG00000087087 HGNC:24101 SRRT gene SRRT Expert list Childhood onset leukodystrophy Neurology Multiple respiratory chain complex deficiencies (disorders of protein synthesis) False 1 0;0;100 30.556 False ENSG00000087087 ENSG00000087087 HGNC:24101 SRY gene SRY Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology Other - please specifiy in evaluation comments 46XY SEX REVERSAL 1 False 1 50;0;50 30.556 False ENSG00000184895 ENSG00000184895 HGNC:11311 STAB2 gene STAB2 Expert Review Red Childhood onset leukodystrophy Neurology 26350204 False 1 0;0;100 30.556 False ENSG00000136011 ENSG00000136011 HGNC:18629 STAR gene STAR Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Lipoid adrenal hyperplasia, 201710 False 1 50;0;50 30.556 False ENSG00000147465 ENSG00000147465 HGNC:11359 STARD8 gene STARD8 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 26350204 False 1 0;0;100 30.556 False ENSG00000130052 ENSG00000130052 HGNC:19161 STAT1 gene STAT1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Immunodeficiency 31A, mycobacteriosis, autosomal dominant, 614892;Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796;Immunodeficiency 31C, autosomal dominant, 614162 False 1 33;33;33 30.556 False ENSG00000115415 ENSG00000115415 HGNC:11362 STAT2 gene STAT2 Expert Review Red;Victorian Clinical Genetics Services;Expert list Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal severe neurological deterioration following viral infection;elongated mitochondria;Immunodeficiency 44, 616636 26122121;28087227;23391734 False 1 75;0;25 30.556 True ENSG00000170581 ENSG00000170581 HGNC:11363 STAT5B gene STAT5B Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, OMIM:245590;Growth hormone insensitivity with immune dysregulation 2, autosomal dominant, OMIM:618985 False 1 0;0;0 30.556 False ENSG00000173757 ENSG00000173757 HGNC:11367 STS gene STS Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Gene2Phenotype confirmed gene with ID HPO 32139392 False 1 50;0;50 30.556 False ENSG00000101846 ENSG00000101846 HGNC:11425 STT3B gene STT3B Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal ?Congenital disorder of glycosylation, type Ix 615597 False 1 0;0;0 30.556 False ENSG00000163527 ENSG00000163527 HGNC:30611 STT3B gene STT3B Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal ?Congenital disorder of glycosylation, type Ix, 615597; developmental delay; intellectual disability 23842455 False 1 0;0;100 30.556 False ENSG00000163527 ENSG00000163527 HGNC:30611 STUB1 gene STUB1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology 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 24312598;25592071;30381368;32713943;33564152;35493319;34906452 False 1 50;0;50 30.556 False ENSG00000103266 ENSG00000103266 HGNC:11427 STX11 gene STX11 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000135604 ENSG00000135604 HGNC:11429 STX3 gene STX3 Other Childhood onset leukodystrophy Neurology Unknown False 1 0;0;0 30.556 False ENSG00000166900 ENSG00000166900 HGNC:11438 STXBP1 gene STXBP1 Expert list Childhood onset leukodystrophy Neurology Epileptic encephalopathy, early infantile, 4 612164 29903433 False 1 0;0;100 30.556 False ENSG00000136854 ENSG00000136854 HGNC:11444 SUCLG2 gene SUCLG2 Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology No OMIM phenotype False 1 0;100;0 30.556 False ENSG00000172340 ENSG00000172340 HGNC:11450 SUCLG2 gene SUCLG2 London North GLH;NHS GMS;Expert Review Red Childhood onset leukodystrophy Neurology Unknown Succinyl-CoA synthetase deficiency (Other metabolic disorders);No OMIM phenotype 27604308 False 1 0;50;50 30.556 False ENSG00000172340 ENSG00000172340 HGNC:11450 SUGCT gene SUGCT London North GLH;NHS GMS;Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Glutaric aciduria type III (Organic acidurias);Glutaric aciduria type III 231690 27604308 False 1 0;0;100 30.556 False ENSG00000175600 ENSG00000175600 HGNC:16001 SYNE1 gene SYNE1 Victorian Clinical Genetics Services;Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998; Spinocerebellar ataxia, autosomal recessive 8, 610743; intellectual disability 26350204; 24123876 False 1 75;0;25 30.556 False ENSG00000131018 ENSG00000131018 HGNC:17089 SYNE2 gene SYNE2 Literature Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal autism spectrum disorder, developmental delay and intellectual disability 34573277 False 1 0;0;100 30.556 False ENSG00000054654 ENSG00000054654 HGNC:17084 SYT14 gene SYT14 Victorian Clinical Genetics Services;Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology psychomotor retardation 17304550 False 1 0;0;100 30.556 False ENSG00000143469 ENSG00000143469 HGNC:23143 SYTL4 gene SYTL4 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 26350204; 22091964 False 1 0;0;100 30.556 False ENSG00000102362 ENSG00000102362 HGNC:15588 SYTL5 gene SYTL5 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 26350204 False 1 0;0;100 30.556 False ENSG00000147041 ENSG00000147041 HGNC:15589 TACO1 gene TACO1 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, 220110 (includes mild to moderate developmental delay and intellectual disability) 25044680; 20727754 False 1 0;67;33 30.556 False ENSG00000136463 ENSG00000136463 HGNC:24316 TAF7L gene TAF7L Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 26350204 False 1 0;0;100 30.556 False ENSG00000102387 ENSG00000102387 HGNC:11548 TANGO2 gene TANGO2 Expert Review Red;Expert Review Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878 26805782;26805781 False 1 67;0;33 30.556 False ENSG00000183597 ENSG00000183597 HGNC:25439 TARDBP gene TARDBP Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyotrophic lateral sclerosis 10, with or without FTD, 612069; Frontotemporal lobar degeneration, TARDBP-related, 612069 False 1 50;0;50 30.556 False ENSG00000120948 ENSG00000120948 HGNC:11571 TBC1D8B gene TBC1D8B Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 26350204 False 1 0;0;100 30.556 False ENSG00000133138 ENSG00000133138 HGNC:24715 TBP gene TBP Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology Other Spinocerebellar ataxia 17, OMIM:607136 False 1 50;0;50 30.556 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000112592 ENSG00000112592 HGNC:11588 TBX15 gene TBX15 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Cousin Syndrome; Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature False 1 50;0;50 30.556 False ENSG00000092607 ENSG00000092607 HGNC:11594 TBX20 gene TBX20 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Atrial septal defect 4, 611363 False 1 50;0;50 30.556 False ENSG00000164532 ENSG00000164532 HGNC:11598 TBX22 gene TBX22 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Cleft palate with ankyloglossia, 303400;?Abruzzo-Erickson; syndrome, 302905 False 1 50;0;50 30.556 False ENSG00000122145 ENSG00000122145 HGNC:11600 TBX3 gene TBX3 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ulnar-mammary syndrome, 181450 False 1 50;0;50 30.556 False ENSG00000135111 ENSG00000135111 HGNC:11602 TBX4 gene TBX4 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Small patella syndrome, 147891 False 1 50;0;50 30.556 False ENSG00000121075 ENSG00000121075 HGNC:11603 TBX5 gene TBX5 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holt-Oram syndrome, 142900 False 1 50;0;50 30.556 False ENSG00000089225 ENSG00000089225 HGNC:11604 TBXAS1 gene TBXAS1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Ghosal hematodiaphyseal syndrome, OMIM:231095 False 1 50;0;50 30.556 False Other - please provide details in the comments ENSG00000059377 ENSG00000059377 HGNC:11609 TCEAL3 gene TCEAL3 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 19377476; 26350204 False 1 0;0;100 30.556 False ENSG00000196507 ENSG00000196507 HGNC:28247 TCF12 gene TCF12 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Craniosynostosis 3, 615314 False 1 50;0;50 30.556 False ENSG00000140262 ENSG00000140262 HGNC:11623 TCN1 gene TCN1 London North GLH;NHS GMS;Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Haptocorrin deficiency (Disorders of cobalamin absorption, transport and metabolism);No OMIM number 27604308 False 1 0;0;100 30.556 False ENSG00000134827 ENSG00000134827 HGNC:11652 TCOF1 gene TCOF1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Gene2Phenotype confirmed gene with ID HPO False 1 100;0;0 30.556 False ENSG00000070814 ENSG00000070814 HGNC:11654 TCP10L2 gene TCP10L2 Expert Review Red Childhood onset leukodystrophy Neurology 26350204 False 1 0;0;100 30.556 False ENSG00000166984 ENSG00000166984 HGNC:21254 TCTN1 gene TCTN1 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 13, 614173; intellectual disability 25118024; 22693042 False 1 0;67;33 30.556 False ENSG00000204852 ENSG00000204852 HGNC:26113 TDO2 gene TDO2 London North GLH;NHS GMS;Expert Review Red Childhood onset leukodystrophy Neurology Unknown No OMIM number;Tryptophanaemia (Disorders of histidine, tryptophan or lysine metabolism) 27604308 False 1 0;0;100 30.556 False ENSG00000151790 ENSG00000151790 HGNC:11708 TECR gene TECR Victorian Clinical Genetics Services;Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology non-syndromic mental retardation 21212097 False 1 0;0;100 30.556 False ENSG00000099797 ENSG00000099797 HGNC:4551 TEK gene TEK Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Venous malformations, multiple cutaneous and mucosal, 600195 False 1 50;0;50 30.556 False Other - please provide details in the comments ENSG00000120156 ENSG00000120156 HGNC:11724 TENM1 gene TENM1 Expert Review Red Childhood onset leukodystrophy Neurology 26350204 False 1 0;0;100 30.556 False ENSG00000009694 ENSG00000009694 HGNC:8117 TEPSIN gene TEPSIN Expert Review Red Childhood onset leukodystrophy Neurology False 1 0;0;100 30.556 False ENSG00000167302 ENSG00000167302 HGNC:26458 TFAP2A gene TFAP2A Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Branchiooculofacial syndrome, 113620 False 1 50;0;50 30.556 False Other - please provide details in the comments ENSG00000137203 ENSG00000137203 HGNC:11742 TFAP2B gene TFAP2B Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Char syndrome, 169100 False 1 50;0;50 30.556 False Other - please provide details in the comments ENSG00000008196 ENSG00000008196 HGNC:11743 TFB2M gene TFB2M Expert Review Red;Other Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Intellectual disability False 1 0;0;0 30.556 False ENSG00000162851 ENSG00000162851 HGNC:18559 TGDS gene TGDS Victorian Clinical Genetics Services;Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Catel-Manzke syndrome, 616145 False 1 33;0;67 30.556 False ENSG00000088451 ENSG00000088451 HGNC:20324 TGFB2 gene TGFB2 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Loeys-Dietz syndrome, type 4, 614816 False 1 50;0;50 30.556 False ENSG00000092969 ENSG00000092969 HGNC:11768 TGFB3 gene TGFB3 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Arrhythmogenic right ventricular dysplasia 1, 107970;?Rienhoff syndrome, 615582 False 1 50;0;50 30.556 False ENSG00000119699 ENSG00000119699 HGNC:11769 TGFBR1 gene TGFBR1 Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology Loeys-Dietz syndrome 1, 609192 (includes uncommon developmental delay and mental retardation) 24896178 False 1 25;0;75 30.556 False ENSG00000106799 ENSG00000106799 HGNC:11772 TGFBR2 gene TGFBR2 Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology Loeys-Dietz syndrome 2, 610168 24896178; 17979970 False 1 25;0;75 30.556 False ENSG00000163513 ENSG00000163513 HGNC:11773 TGM6 gene TGM6 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 35, 613908 22554020 False 1 50;0;50 30.556 False ENSG00000166948 ENSG00000166948 HGNC:16255 THAP1 gene THAP1 Expert Review Red Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted DYSTONIA 6, TORSION 0 False 1 60;20;20 30.556 False ENSG00000131931 ENSG00000131931 HGNC:20856 TIMM44 gene TIMM44 Expert Review Red Childhood onset leukodystrophy Neurology Unknown No OMIM phenotype False 1 0;100;0 30.556 False ENSG00000104980 ENSG00000104980 HGNC:17316 TIMM44 gene TIMM44 Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology No OMIM phenotype False 1 0;100;0 30.556 False ENSG00000104980 ENSG00000104980 HGNC:17316 TIMM8A gene TIMM8A Expert Review Red;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Deafness, X-linked 1, progressiveMohr-Tranebjaerg syndrome, 304700Jensen syndrome, 311150;JENSEN SYNDROME False 1 60;0;40 30.556 False ENSG00000126953 ENSG00000126953 HGNC:11817 TINF2 gene TINF2 Expert Review Red;Victorian Clinical Genetics Services;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dyskeratosis congenita, autosomal dominant 3, 613990;Revesz syndrome, 268130 False 1 67;0;33 30.556 False ENSG00000092330 ENSG00000092330 HGNC:11824 TK2 gene TK2 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560 0 False 1 25;50;25 30.556 False ENSG00000166548 ENSG00000166548 HGNC:11831 TKTL1 gene TKTL1 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) False 1 0;0;100 30.556 False ENSG00000007350 ENSG00000007350 HGNC:11835 TLR8 gene TLR8 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) False 1 0;0;100 30.556 False ENSG00000101916 ENSG00000101916 HGNC:15632 TM4SF20 gene TM4SF20 Expert Review Red Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown early language delay; {Specific language impairment 5}, 615432 23810381 False 1 0;0;100 30.556 False ENSG00000168955 ENSG00000168955 HGNC:26230 TM6SF2 gene TM6SF2 Expert Review Red Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown non-alcoholic fatty liver disease 28235613 False 1 0;0;100 30.556 False ENSG00000213996 ENSG00000213996 HGNC:11861 TMEM126A gene TMEM126A Expert Review Red;London North GLH;NHS GMS Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Optic atrophy 7 612989 27604308;31119195 False 1 50;0;50 30.556 False ENSG00000171202 ENSG00000171202 HGNC:25382 TMEM126A gene TMEM126A Radboud University Medical Center, Nijmegen;Expert Childhood onset leukodystrophy Neurology Optic atrophy-7, 612989 False 1 100;0;0 30.556 False ENSG00000171202 ENSG00000171202 HGNC:25382 TMEM126B gene TMEM126B Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Muscle Weakness and Isolated Complex I Deficiency False 1 50;0;50 30.556 False ENSG00000171204 ENSG00000171204 HGNC:30883 TMEM132E gene TMEM132E Expert Review Red Childhood onset leukodystrophy Neurology 26350204 False 1 0;0;100 30.556 False ENSG00000181291 ENSG00000181291 HGNC:26991 TMEM135 gene TMEM135 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;0;100 30.556 False ENSG00000166575 ENSG00000166575 HGNC:26167 TMEM260 gene TMEM260 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 30.556 False ENSG00000070269 ENSG00000070269 HGNC:20185 TMPRSS6 gene TMPRSS6 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Iron-refractory iron deficiency anemia, 206200 False 1 50;0;50 30.556 False ENSG00000187045 ENSG00000187045 HGNC:16517 TMPRSS9 gene TMPRSS9 Other Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Progressive intellectual and neurological deterioration;Global developmental delay;Intellectual disability;Autism;Epilepsy 31943016 False 1 0;0;100 30.556 False ENSG00000178297 ENSG00000178297 HGNC:30079 TNKS2 gene TNKS2 Expert Review Red Childhood onset leukodystrophy Neurology 26350204 False 1 0;0;100 30.556 False ENSG00000107854 ENSG00000107854 HGNC:15677 TP63 gene TP63 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ADULT syndrome, OMIM:103285;Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292;Hay-Wells syndrome, OMIM:106260;Limb-mammary syndrome, OMIM:603543;Orofacial cleft 8, OMIM:618149;Rapp-Hodgkin syndrome, OMIM:129400;Split-hand/foot malformation 4, OMIM:605289 False 1 50;0;50 30.556 False ENSG00000073282 ENSG00000073282 HGNC:15979 TPH2 gene TPH2 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000139287 ENSG00000139287 HGNC:20692 TPK1 gene TPK1 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000196511 ENSG00000196511 HGNC:17358 TPMT gene TPMT London North GLH;NHS GMS;Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Thiopurine S-methyltransferase deficiency (Disorders of purine metabolism);{Thiopurines, poor metabolism of, 1} 610460 27604308 False 1 0;0;100 30.556 False ENSG00000137364 ENSG00000137364 HGNC:12014 TPR gene TPR Literature Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Intellectual disability, MONDO:0001071 34494102 False 1 0;0;100 30.556 False ENSG00000047410 ENSG00000047410 HGNC:12017 TRAK1 gene TRAK1 Expert list Childhood onset leukodystrophy Neurology False 1 0;0;100 30.556 False ENSG00000182606 ENSG00000182606 HGNC:29947 TRAP1 gene TRAP1 Expert Childhood onset leukodystrophy Neurology PMID: 24152966 - recessive mutations reported in 2 families with CAKUT, and 3 families with VACTERL. False 1 100;0;0 30.556 False ENSG00000126602 ENSG00000126602 HGNC:16264 TRAPPC2 gene TRAPPC2 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females NA False 1 50;0;50 30.556 False ENSG00000196459 ENSG00000196459 HGNC:23068 TRAPPC6A gene TRAPPC6A Expert Review Red;Literature Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Intellectual disability;dysmorphic features 29391579 False 1 0;0;100 30.556 False ENSG00000007255 ENSG00000007255 HGNC:23069 TREH gene TREH London North GLH;NHS GMS;Expert Review Red Childhood onset leukodystrophy Neurology Unknown Trehalase deficiency (Other carbohydrate disorders) 27604308 False 1 0;0;100 30.556 False ENSG00000118094 ENSG00000118094 HGNC:12266 TREX2 gene TREX2 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 26350204 False 1 0;0;100 30.556 False ENSG00000183479 ENSG00000183479 HGNC:12270 TRHR gene TRHR Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000174417 ENSG00000174417 HGNC:12299 TRIM32 gene TRIM32 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 11, 615988 16606853 False 1 25;50;25 30.556 False ENSG00000119401 ENSG00000119401 HGNC:16380 TRIM37 gene TRIM37 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal MULIBREY NANISM;MUL;Muscle-liver-brain-eye nanism 0 False 1 20;40;40 30.556 False ENSG00000108395 ENSG00000108395 HGNC:7523 TRIP11 gene TRIP11 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Achondrogenesis, type IA, 200600 False 1 50;0;50 30.556 False ENSG00000100815 ENSG00000100815 HGNC:12305 TRIP13 gene TRIP13 Victorian Clinical Genetics Services;Literature Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal "Mosaic variegated aneuploidy syndrome 3 617598" 28553959 False 1 0;100;0 30.556 False ENSG00000071539 ENSG00000071539 HGNC:12307 TRMT1L gene TRMT1L Literature Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Early-onset neurodegenerative symptoms 39786990 False 1 0;0;0 30.556 False ENSG00000121486 ENSG00000121486 HGNC:16782 TRPM1 gene TRPM1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Night blindness, congenital stationary (complete), 1C, autosomal; recessive, 613216 False 1 50;0;50 30.556 False ENSG00000134160 ENSG00000134160 HGNC:7146 TRPS1 gene TRPS1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Trichorhinophalangeal syndrome, type I, 190350;Trichorhinophalangeal syndrome, type III, 190351 False 1 33;33;33 30.556 False ENSG00000104447 ENSG00000104447 HGNC:12340 TRPV4 gene TRPV4 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brachyolmia type 3, 113500;Spondylometaphyseal dysplasia, Kozlowski type, 184252;Metatropic dysplasia, 156530;Hereditary motor and sensory neuropathy, type IIc, 606071;Scapuloperoneal spinal; muscular atrophy, 181405;[Sodium serum level QTL 1], 613508;Parastremmatic dwarfism, 168400;SED, Maroteaux type, 184095;Spinal muscular atrophy, distal, congenital nonprogressive, 600175;Digital arthropathy-brachydactyly, familial, 606835 False 1 50;0;50 30.556 False ENSG00000111199 ENSG00000111199 HGNC:18083 TSC22D3 gene TSC22D3 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 26350204 False 1 0;0;100 30.556 False ENSG00000157514 ENSG00000157514 HGNC:3051 TSHR gene TSHR Expert Review Red;Victorian Clinical Genetics Services;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypothyroidism, congenital, nongoitrous, 1 275200; Thyroid; adenoma, hyperfunctioning, somatic; Hyperthyroidism, nonautoimmune, 609152; Thyroid carcinoma with thyrotoxicosis; Hyperthyroidism, familial; gestational, 603373 False 1 50;0;50 30.556 False Other - please provide details in the comments ENSG00000165409 ENSG00000165409 HGNC:12373 TSPAN8 gene TSPAN8 Other Childhood onset leukodystrophy Neurology Unknown False 1 0;0;0 30.556 False ENSG00000127324 ENSG00000127324 HGNC:11855 TTBK2 gene TTBK2 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 11, 604432 False 1 50;0;50 30.556 False ENSG00000128881 ENSG00000128881 HGNC:19141 TTC7A gene TTC7A Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Intestinal atresia, multiple, 243150 False 1 50;0;50 30.556 False ENSG00000068724 ENSG00000068724 HGNC:19750 TTN gene TTN Expert Review Red Childhood onset leukodystrophy Neurology False 1 0;0;100 30.556 False ENSG00000155657 ENSG00000155657 HGNC:12403 TTPA gene TTPA Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Ataxia with isolated vitamin E deficiency, 277460 False 1 50;0;50 30.556 False ENSG00000137561 ENSG00000137561 HGNC:12404 TTR gene TTR Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000118271 ENSG00000118271 HGNC:12405 TUBA1A gene TUBA1A Expert Review Red Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lissencephaly 3;Lissencephaly, Dominant;Cerebral Malformation Disorders;Lissencephaly 3, 611603 False 1 0;0;0 30.556 False ENSG00000167552 ENSG00000167552 HGNC:20766 TUBA8 gene TUBA8 Expert Review Red Childhood onset leukodystrophy Neurology Unknown Cerebral Malformation Disorders False 1 0;0;0 30.556 False ENSG00000183785 ENSG00000183785 HGNC:12410 TUBA8 gene TUBA8 Expert Review Red;Victorian Clinical Genetics Services;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Polymicrogyria with optic nerve hypoplasia, 613180;POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA (PMGONH) False 1 75;0;25 30.556 False ENSG00000183785 ENSG00000183785 HGNC:12410 TUBAL3 gene TUBAL3 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal intellectual disability/developmental delay with cognitive impairment 27431290; 26350204 False 1 0;0;100 30.556 False ENSG00000178462 ENSG00000178462 HGNC:23534 TUBB2B gene TUBB2B Expert Review Red Childhood onset leukodystrophy Neurology Unknown Cerebral Malformation Disorders False 1 0;0;0 30.556 False ENSG00000137285 ENSG00000137285 HGNC:30829 TUFM gene TUFM Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 4, 610678 17160893 False 1 0;67;33 30.556 False ENSG00000178952 ENSG00000178952 HGNC:12420 TXN2 gene TXN2 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal infantile-onset neurodegenerative disorder with severe cerebellar atrophy, epilepsy, dystonia, optic atrophy, and peripheral neuropathy;?Combined oxidative phosphorylation deficiency 29 PMID: 26626369 False 1 100;0;0 30.556 False ENSG00000100348 ENSG00000100348 HGNC:17772 TXN2 gene TXN2 Victorian Clinical Genetics Services;Expert Review Red;Expert list Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal infantile-onset neurodegenerative disorder with severe cerebellar atrophy, epilepsy, dystonia, optic atrophy, and peripheral neuropathy;?Combined oxidative phosphorylation deficiency 29 26626369 False 1 100;0;0 30.556 True ENSG00000100348 ENSG00000100348 HGNC:17772 TXNL4A gene TXNL4A Expert Review Red;Victorian Clinical Genetics Services;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Burn-McKeown syndrome, 608572 False 1 50;0;50 30.556 False ENSG00000141759 ENSG00000141759 HGNC:30551 TYR gene TYR Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Albinism, oculocutaneous, type IA, OMIM:203100;Albinism, oculocutaneous, type IB, OMIM:606952;Waardenburg syndrome/albinism, digenic, OMIM:103470 False 1 50;0;50 30.556 False ENSG00000077498 ENSG00000077498 HGNC:12442 TYROBP gene TYROBP Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Nasu-Hakola disease, MIM#221770 False 1 0;0;0 30.556 False ENSG00000011600 ENSG00000011600 HGNC:12449 TYRP1 gene TYRP1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Albinism, oculocutaneous, type III, 203290;[Skin/hair/eye; pigmentation, variation in, 11 (Melanesian blond hair)], 612271 False 1 50;0;50 30.556 False ENSG00000107165 ENSG00000107165 HGNC:12450 UBE2U gene UBE2U Expert Review Red;Literature Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinoschisis, MONDO:0004579;cataracts;learning disability, MONDO:0004681;developmental delay 33776059 False 1 0;0;100 30.556 False ENSG00000177414 ENSG00000177414 HGNC:28559 UBR4 gene UBR4 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000127481 ENSG00000127481 HGNC:30313 UGT1A1 gene UGT1A1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal NA False 1 50;0;50 30.556 False ENSG00000241635 ENSG00000241635 HGNC:12530 UNC13D gene UNC13D Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal 29312353 False 1 0;0;0 30.556 False ENSG00000092929 ENSG00000092929 HGNC:23147 UQCC1 gene UQCC1 Expert Review Red;NHS GMS Childhood onset leukodystrophy Neurology Unknown No OMIM phenotype False 1 0;50;50 30.556 False ENSG00000101019 ENSG00000101019 HGNC:15891 UQCR10 gene UQCR10 Expert Review Red;NHS GMS Childhood onset leukodystrophy Neurology Unknown No OMIM phenotype False 1 0;50;50 30.556 False ENSG00000184076 ENSG00000184076 HGNC:30863 UQCR11 gene UQCR11 Expert Review Red;NHS GMS Childhood onset leukodystrophy Neurology Unknown No OMIM phenotype False 1 0;50;50 30.556 False ENSG00000127540 ENSG00000127540 HGNC:30862 UQCRB gene UQCRB Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158 28604960 False 1 0;67;33 30.556 False ENSG00000156467 ENSG00000156467 HGNC:12582 UQCRH gene UQCRH Expert Review Red Childhood onset leukodystrophy Neurology Unknown No OMIM phenotype False 1 0;100;0 30.556 False ENSG00000173660 ENSG00000173660 HGNC:12590 UQCRH gene UQCRH Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology No OMIM phenotype False 1 0;100;0 30.556 False ENSG00000173660 ENSG00000173660 HGNC:12590 UQCRQ gene UQCRQ Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 4, 615159 0 False 1 0;67;33 30.556 False ENSG00000164405 ENSG00000164405 HGNC:29594 UROS gene UROS Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Porphyria, congenital erythropoietic, 263700 False 1 50;0;50 30.556 False ENSG00000188690 ENSG00000188690 HGNC:12592 USB1 gene USB1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Poikiloderma with neutropenia False 1 50;0;50 30.556 False ENSG00000103005 ENSG00000103005 HGNC:25792 USF1 gene USF1 London North GLH;NHS GMS;Expert Review Red Childhood onset leukodystrophy Neurology Unknown Familial combined hyperlipoproteinaemia (Inherited mixed hyperlipidaemias) 27604308 False 1 0;0;100 30.556 False ENSG00000158773 ENSG00000158773 HGNC:12593 USMG5 gene USMG5 Expert list Childhood onset leukodystrophy Neurology Autosomal recessive Leigh syndrome 29903433;29917077;30240627 False 1 0;100;0 30.556 False ENSG00000173915 ENSG00000173915 HGNC:30889 USP18 gene USP18 Expert Review Red;Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Pseudo-TORCH syndrome 2, 617397 12833411;27325888;31940699 False 1 100;0;0 30.556 False ENSG00000184979 ENSG00000184979 HGNC:12616 UTP14A gene UTP14A Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) False 1 0;0;100 30.556 False ENSG00000156697 ENSG00000156697 HGNC:10665 UVSSA gene UVSSA Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal UV-sensitive syndrome 3, 614640 False 1 50;0;50 30.556 False ENSG00000163945 ENSG00000163945 HGNC:29304 VAMP1 gene VAMP1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 25, 618323 28253535;28600779;28168212 False 1 33;33;33 30.556 False ENSG00000139190 ENSG00000139190 HGNC:12642 VAMP7 gene VAMP7 Expert Review Red Childhood onset leukodystrophy Neurology Unknown 26350204 False 1 0;0;100 30.556 False ENSG00000124333 ENSG00000124333 HGNC:11486 VDR gene VDR Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Gene2Phenotype confirmed gene with ID HPO False 1 100;0;0 30.556 False ENSG00000111424 ENSG00000111424 HGNC:12679 VIP gene VIP Expert Review Red Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Asperger syndrome 23849776 False 1 0;0;100 30.556 False ENSG00000146469 ENSG00000146469 HGNC:12693 VPS13C gene VPS13C Expert Review Red;Expert Review Red;Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology Unknown False 1 33;0;67 30.556 False ENSG00000129003 ENSG00000129003 HGNC:23594 VPS13C gene VPS13C Expert Review Red;Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Parkinson disease 23, autosomal recessive, early onset, 616840 26942284;30452786;28862745 False 1 33;0;67 30.556 False ENSG00000129003 ENSG00000129003 HGNC:23594 VPS35 gene VPS35 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Parkinson disease 17, 614203 False 1 50;0;50 30.556 False ENSG00000069329 ENSG00000069329 HGNC:13487 VSX2 gene VSX2 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Microphthalmia with coloboma 3, 610092;Microphthalmia, isolated 2, 610093 False 1 50;0;50 30.556 False ENSG00000119614 ENSG00000119614 HGNC:1975 WDR13 gene WDR13 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) X-linked intellectual disability; XLID 24896178; 26350204; 20655035 False 1 0;0;100 30.556 False ENSG00000101940 ENSG00000101940 HGNC:14352 WDR19 gene WDR19 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 13, 614377;Cranioectodermal dysplasia 4, 614378;Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 False 1 50;0;50 30.556 False ENSG00000157796 ENSG00000157796 HGNC:18340 WDR34 gene WDR34 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 False 1 50;0;50 30.556 False Other - please provide details in the comments ENSG00000119333 ENSG00000119333 HGNC:28296 WDR35 gene WDR35 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia 2, 613610;Short-rib thoracic; dysplasia 7 with or without polydactyly, 614091 False 1 50;0;50 30.556 False ENSG00000118965 ENSG00000118965 HGNC:29250 WDR60 gene WDR60 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal JEUNE SYNDROMES 23910462 False 1 25;50;25 30.556 False ENSG00000126870 ENSG00000126870 HGNC:21862 WFS1 gene WFS1 Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Wolfram syndrome 1, 222300;Wolfram-like syndrome, autosomal dominant, 614296 39767643 False 1 0;50;50 30.556 False ENSG00000109501 ENSG00000109501 HGNC:12762 WFS1 gene WFS1 Expert Review Red;NHS GMS Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Wolfram syndrome 1, 222300;Deafness, autosomal dominant 6/14/38, 600965;Wolfram-like syndrome, autosomal dominant, 614296 False 1 0;0;100 30.556 False ENSG00000109501 ENSG00000109501 HGNC:12762 WNT10B gene WNT10B Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Split-hand/foot malformation 6, 225300 False 1 50;0;50 30.556 False ENSG00000169884 ENSG00000169884 HGNC:12775 WNT3 gene WNT3 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Tetra-amelia, autosomal recessive, 273395 False 1 50;0;50 30.556 False ENSG00000108379 ENSG00000108379 HGNC:12782 WNT4 gene WNT4 Expert Review Red Childhood onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal MULLERIAN APLASIA AND HYPERANDROGENISM 15317892 False 1 0;67;33 30.556 False ENSG00000162552 ENSG00000162552 HGNC:12783 WNT5A gene WNT5A Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Gene2Phenotype confirmed gene with ID HPO False 1 50;50;0 30.556 False Other - please provide details in the comments ENSG00000114251 ENSG00000114251 HGNC:12784 WNT7A gene WNT7A Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Ulna and fibula, absence of, with severe limb deficiency, 276820;Fuhrmann syndrome, 228930 False 1 50;0;50 30.556 False ENSG00000154764 ENSG00000154764 HGNC:12786 WRAP53 gene WRAP53 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 3, 613988 False 1 50;0;50 30.556 False Other - please provide details in the comments ENSG00000141499 ENSG00000141499 HGNC:25522 WRN gene WRN Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000165392 ENSG00000165392 HGNC:12791 WT1 gene WT1 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Wilms tumor, type 1, 194070;Denys-Drash syndrome, 194080;Nephrotic syndrome, type 4, 256370;Frasier syndrome, 136680;Meacham syndrome, 608978;Mesothelioma, somatic, 156240 39625990 False 1 50;0;50 30.556 False ENSG00000184937 ENSG00000184937 HGNC:12796 WWC3 gene WWC3 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) False 1 0;0;100 30.556 False ENSG00000047644 ENSG00000047644 HGNC:29237 XIAP gene XIAP Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 26350204; 24733578; 25450604 False 1 0;0;100 30.556 False ENSG00000101966 ENSG00000101966 HGNC:592 XIST gene XIST Victorian Clinical Genetics Services Childhood onset leukodystrophy Neurology False 1 0;0;0 30.556 False ENSG00000229807 ENSG00000229807 HGNC:12810 XK gene XK Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) X-linked mental retardation 19377476 False 1 0;0;100 30.556 False ENSG00000047597 ENSG00000047597 HGNC:12811 XKRX gene XKRX Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 26350204; 19377476 False 1 0;0;100 30.556 False ENSG00000182489 ENSG00000182489 HGNC:29845 XPC gene XPC Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group C, 278720 False 1 50;0;50 30.556 False ENSG00000154767 ENSG00000154767 HGNC:12816 XPNPEP3 gene XPNPEP3 Victorian Clinical Genetics Services;Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Nephronophthisis-like nephropathy 1 OMIM:613159;nephronophthisis-like nephropathy 1 MONDO:0013163 20179356;32660933 False 1 0;0;100 30.556 False ENSG00000196236 ENSG00000196236 HGNC:28052 XRCC4 gene XRCC4 Expert list Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Short stature, microcephaly, and endocrine dysfunction, OMIM:616541 29903433 False 1 0;0;100 30.556 False ENSG00000152422 ENSG00000152422 HGNC:12831 YAP1 gene YAP1 Victorian Clinical Genetics Services;Expert Review Red Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, 120433 24462371 False 1 0;0;100 30.556 False ENSG00000137693 ENSG00000137693 HGNC:16262 YBX3 gene YBX3 Literature Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurological disorder 39423228 False 1 0;0;100 30.556 False ENSG00000060138 ENSG00000060138 HGNC:2428 YWHAE gene YWHAE Literature Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092 36999555 False 1 0;0;100 30.556 False ENSG00000108953 ENSG00000108953 HGNC:12851 YWHAZ gene YWHAZ Literature Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual disability, MONDO:0001071 36001342 False 1 0;0;100 30.556 False ENSG00000164924 ENSG00000164924 HGNC:12855 ZBTB16 gene ZBTB16 Victorian Clinical Genetics Services;Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Skeletal defects, genital hypoplasia, and mental retardation, 612447 18611983 False 1 0;0;100 30.556 False ENSG00000109906 ENSG00000109906 HGNC:12930 ZBTB40 gene ZBTB40 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;0;100 30.556 False ENSG00000184677 ENSG00000184677 HGNC:29045 ZCCHC12 gene ZCCHC12 Expert Review Red Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) nonsyndromic X-linked mental retardation; XLMR 26350204; 23871722; 18798319 False 1 0;0;100 30.556 False ENSG00000174460 ENSG00000174460 HGNC:27273 ZCCHC8 gene ZCCHC8 Expert Review Red Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 26350204 False 1 0;0;100 30.556 False ENSG00000033030 ENSG00000033030 HGNC:25265 ZDHHC15 gene ZDHHC15 Expert Review Red;Emory Genetics Laboratory Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) cerebral palsy;intellectual disability;autism spectrum disorder;epilepsy 15915161;34345675 False 1 0;0;100 30.556 False ENSG00000102383 ENSG00000102383 HGNC:20342 ZIC3 gene ZIC3 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Heterotaxy, visceral, 1, X-linked 306955;Congenital heart defects, nonsyndromic, 1, X-linked, 306955;VACTERL association, X-linked, 314390 False 1 50;0;50 30.556 False ENSG00000156925 ENSG00000156925 HGNC:12874 ZMPSTE24 gene ZMPSTE24 Expert Review Red;BRIDGE study SPEED NEURO Tier1 Gene Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Mandibuloacral dysplasia with type B lipodystrophy, 608612; Restrictive dermopathy, lethal, 275210 False 1 50;0;50 30.556 False ENSG00000084073 ENSG00000084073 HGNC:12877 ZMYM6 gene ZMYM6 Expert Review Red Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted INTELLECTUAL DISABILITY 26350204 False 1 0;0;100 30.556 False ENSG00000163867 ENSG00000163867 HGNC:13050 ZMYND12 gene ZMYND12 Expert Review Red Childhood onset leukodystrophy Neurology 26350204 False 1 0;0;100 30.556 False ENSG00000066185 ENSG00000066185 HGNC:21192 ZNF41 gene ZNF41 Victorian Clinical Genetics Services;Expert Review Red;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked 89, 300848;Mental Retardation, X-linked 26350204; 14628291; 23871722 False 1 0;0;100 30.556 False ENSG00000147124 ENSG00000147124 HGNC:13107 ZNF425 gene ZNF425 Expert Review Red Childhood onset leukodystrophy Neurology 26350204 False 1 0;0;100 30.556 False ENSG00000204947 ENSG00000204947 HGNC:20690 ZNF592 gene ZNF592 Expert Review Red;Radboud University Medical Center, Nijmegen Childhood onset leukodystrophy Neurology Spinocerebellar ataxia, autosomal recessive 5, 606937 20531441; 26123727 False 1 0;0;100 30.556 False ENSG00000166716 ENSG00000166716 HGNC:28986 ZNF599 gene ZNF599 Expert Review Red Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Chromosome 19q13.11 deletion syndrome, distal, 613026 (includes intellectual disability and developmental delay) 22378287 False 1 0;0;100 30.556 False ENSG00000153896 ENSG00000153896 HGNC:26408 ZNF674 gene ZNF674 Victorian Clinical Genetics Services;Expert Review Red;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental Retardation, X-linked;Mental retardation, X-linked 92, 300851 16385466; 22126752; 23871722 False 1 0;0;100 30.556 False ENSG00000251192 ENSG00000251192 HGNC:17625 ZNF713 gene ZNF713 Expert Review Red Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted AUTISM 25196122 False 1 0;0;100 30.556 False ENSG00000178665 ENSG00000178665 HGNC:22043 ZNF81 gene ZNF81 Victorian Clinical Genetics Services;Expert Review Red;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental Retardation, X-linked;Mental retardation, X-linked 45, 300498 False 1 0;0;100 30.556 False ENSG00000197779 ENSG00000197779 HGNC:13156 AFF2_GCC str AFF2 Literature Childhood onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 109, OMIM:309548;FRAXE intellectual disability, MONDO:0010659 8334699;8023854;21739600;9299237;11171404;11923441;19136466;2356291 False 1 100;0;0 30.556 False ENSG00000155966 ENSG00000155966 HGNC:3776 X 148500631 148500691 GCC 25 200 AFF3_GGC str AFF3 Expert Review Red;Expert Review Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown neurodevelopmental disorder unspecified 39313615 False 1 50;0;50 30.556 False ENSG00000144218 ENSG00000144218 HGNC:6473 2 100104798 100104824 GGC 0 0 FXN_GAA str FXN NHS GMS;Expert Review Red;Expert Review Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Friedreich ataxia, OMIM:229300;Friedreich ataxia with retained reflexes, OMIM:229300 False 1 100;0;0 30.556 True ENSG00000165060 ENSG00000165060 HGNC:3951 9 71652203 71652220 69037287 69037304 GAA 44 66 GLS_GCA str GLS Expert Review Red;Literature Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412 30970188 False 1 100;0;0 30.556 False ENSG00000115419 ENSG00000115419 HGNC:4331 2 191745599 191745646 190880873 190880920 GCA 50 400 GLS_GCA str GLS Expert Review Red;Literature Childhood onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412 30970188 False 1 100;0;0 30.556 False ENSG00000115419 ENSG00000115419 HGNC:4331 2 191745599 191745646 190880873 190880920 GCA 50 400 THAP11_CAG str THAP11 Expert Review Red;Literature Childhood onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 51, OMIM:620947 37148549;38757579;39441143 False 1 0;0;100 30.556 False ENSG00000168286 ENSG00000168286 HGNC:23194 16 67842863 67842950 CAG 38 47