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 ADGRG1 gene ADGRG1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Polymicrogyria, bilateral frontoparietal 606854 15044805 False 3 100;0;0 1.86 False ENSG00000205336 ENSG00000205336 HGNC:4512 AMPD2 gene AMPD2 Expert Review Green;Literature;Other;Radboud University Medical Center, Nijmegen;UKGTN Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal pontocerebellar hypoplasia type 9, 615809 Akizu, N., Cantagrel, V., Schroth, J., Cai, N., Vaux, K., McCloskey, D., Naviaux, R. K., Van Vleet, J., Fenstermaker, A. G., Silhavy, J. L., Scheliga, J. S., Toyama, K., and 16 others. AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder. Cell 154: 505-517, 2013. http://www.omim.org/clinicalSynopsis/615809;Akizu, N., Cantagrel, V., Schroth, J., Cai, N., Vaux, K., McCloskey, D., Naviaux, R. K., Van Vleet, J., Fenstermaker, A. G., Silhavy, J. L., Scheliga, J. S., Toyama, K., and 16 others. AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder. Cell 154: 505-517, 2013. http://www.omim.org/clinicalSynopsis/615809;27066553;23911318 False 3 100;0;0 1.86 False ENSG00000116337 ENSG00000116337 HGNC:469 ATAD3A gene ATAD3A Expert Review;Expert Review Green Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Harel-Yoon syndrome, OMIM:617183;Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810 27640307;28549128;29053797;31727539;32607449;33845882 False 3 100;0;0 1.86 False ENSG00000197785 ENSG00000197785 HGNC:25567 B3GALNT2 gene B3GALNT2 Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies typeA 11;congenital muscular dystrophies 23453667 False 3 100;0;0 1.86 False ENSG00000162885 ENSG00000162885 HGNC:28596 B4GAT1 gene B4GAT1 Expert Review Green;Literature;Radboud University Medical Center, Nijmegen;UKGTN Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, OMIM:615287 23359570;23877401;23217742 False 3 0;100;0 1.86 False ENSG00000174684 ENSG00000174684 HGNC:15685 CACNA1G gene CACNA1G Expert Review;Expert Review Green Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 42 616795 17397049;25558065;28726809;29878067 False 3 100;0;0 1.86 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000006283 ENSG00000006283 HGNC:1394 CASK gene CASK Eligibility statement prior genetic testing;Expert Review Green;Other;Radboud University Medical Center, Nijmegen;UKGTN Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mental retardation and microcephaly with pontine and cerebellar hypoplasia; FG syndrome 4; Mental retardation, with or without nystagmus;Pontocerebellar Hypoplasia;Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749; FG syndrome 4, 300422; Mental retardation, with or without nystagmus, 300422 21954287;20595373;32700313;33090494;33272775;35149592 False 3 0;0;0 1.86 False ENSG00000147044 ENSG00000147044 HGNC:1497 CDK5 gene CDK5 Expert Review Green;Literature Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lissencephaly 7 with cerebellar hypoplasia, OMIM:616342;lissencephaly 7 with cerebellar hypoplasia, MONDO:0014596 25560765;40186457;28854363;8855328 False 3 100;0;0 1.86 False ENSG00000164885 ENSG00000164885 HGNC:1774 CHMP1A gene CHMP1A Expert Review Green;Literature;Other;Radboud University Medical Center, Nijmegen;UKGTN Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar Hypoplasia type 8;Pontocerebellar Hypoplasia;Pontocerebellar hypoplasia,type 8,614961 PMID: 23023333;PMID: 23023333 False 3 0;100;0 1.86 False ENSG00000131165 ENSG00000131165 HGNC:8740 CLP1 gene CLP1 Expert Review Green;Literature;Other;UKGTN Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia 10 OMIM:615803;Pontocerebellar hypoplasia type 10 MONDO:0014349 PMID: 24766810 False 3 100;0;0 1.86 False ENSG00000172409 ENSG00000172409 HGNC:16999 CWF19L1 gene CWF19L1 Expert Review Green;Literature Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 17, 616127 26197978, 25361784, 27016154 False 3 0;0;100 1.86 False ENSG00000095485 ENSG00000095485 HGNC:25613 DKC1 gene DKC1 Emory Genetics Laboratory;Expert Review Green;Literature;Radboud University Medical Center, Nijmegen;UKGTN Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females X-linked dyskeratosis congenita 9590285;9886310 False 3 100;0;0 1.86 False ENSG00000130826 ENSG00000130826 HGNC:2890 EXOSC3 gene EXOSC3 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Other;Radboud University Medical Center, Nijmegen;UKGTN Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1B, OMIM:614678 PMID: 23284067; PMID: 22544365; PMID: 23564332; PMID: 24524299;PMID: 23284067; PMID: 22544365; PMID: 23564332; PMID: 24524299 False 3 0;0;0 1.86 False ENSG00000107371 ENSG00000107371 HGNC:17944 EXOSC8 gene EXOSC8 Expert Review Green;Radboud University Medical Center, Nijmegen Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1C, OMIM:616081 24989451;38017281;34210538 False 3 50;0;50 1.86 False ENSG00000120699 ENSG00000120699 HGNC:17035 FKRP gene FKRP Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type 15121789 False 3 100;0;0 1.86 False ENSG00000181027 ENSG00000181027 HGNC:17997 FKTN gene FKTN Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Fukuyama congenital muscular dystrophy;Fukuyama Congenital Muscular Dystrophy;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type 9690476;10545611 False 3 100;0;0 1.86 False ENSG00000106692 ENSG00000106692 HGNC:3622 GMPPB gene GMPPB Expert Review Green;Literature;Radboud University Medical Center, Nijmegen;UKGTN Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type 23768512 False 3 0;100;0 1.86 False ENSG00000173540 ENSG00000173540 HGNC:22932 HEATR5B gene HEATR5B Expert Review Green;Literature Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal pontocerebellar hypoplasia, MONDO:0020135;intellectual disability, MONDO:0001071;seizures 33824466 False 3 67;33;0 1.86 False ENSG00000008869 ENSG00000008869 HGNC:29273 ISPD gene ISPD Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital Muscular Dystrophy, alpha-dystroglycan related;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type 22522420 False 3 100;0;0 1.86 False ENSG00000214960 ENSG00000214960 HGNC:37276 ITPR1 gene ITPR1 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Other;Radboud University Medical Center, Nijmegen;UKGTN Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Spinocerebellar ataxia 15; Spinocerebellar ataxia 29, congenital nonprogressive; Gillespie syndrome 206700 False 3 0;0;0 1.86 False ENSG00000150995 ENSG00000150995 HGNC:6180 KCNC3 gene KCNC3 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Other;Radboud University Medical Center, Nijmegen;UKGTN Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 13 False 3 0;0;0 1.86 False ENSG00000131398 ENSG00000131398 HGNC:6235 LARGE1 gene LARGE1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital Muscular Dystrophy, alpha-dystroglycan related;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type 17436019, 24709677 False 3 100;0;0 1.86 False ENSG00000133424 ENSG00000133424 HGNC:6511 MACF1 gene MACF1 Expert Review Green;Literature Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lissencephaly 9 with complex brainstem malformation, 618325 30471716 False 3 0;0;0 1.86 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000127603 ENSG00000127603 HGNC:13664 OPHN1 gene OPHN1 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Other;Radboud University Medical Center, Nijmegen Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance;XLMR with Cerebellar Hypoplasia and Distinctive Facial Appearance;Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 False 3 0;0;0 1.86 False ENSG00000079482 ENSG00000079482 HGNC:8148 PI4KA gene PI4KA Expert Review Green;Literature Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531 25855803;34415322;34415310 False 3 0;100;0 1.86 False ENSG00000241973 ENSG00000241973 HGNC:8983 POMGNT1 gene POMGNT1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital Muscular Dystrophy, alpha-dystroglycan related;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type 11709191, 15236414 False 3 100;0;0 1.86 False ENSG00000085998 ENSG00000085998 HGNC:19139 POMGNT2 gene POMGNT2 Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies type 22958903 False 3 100;0;0 1.86 False ENSG00000144647 ENSG00000144647 HGNC:25902 POMT1 gene POMT1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670 12369018 False 3 100;0;0 1.86 False ENSG00000130714 ENSG00000130714 HGNC:9202 POMT2 gene POMT2 Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type 15894594 False 3 100;0;0 1.86 False ENSG00000009830 ENSG00000009830 HGNC:19743 PRDM13 gene PRDM13 Expert Review Green;Literature Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 17, OMIM:619909;Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, OMIM:619761 35390279;34730112 False 3 100;0;0 1.86 False ENSG00000112238 ENSG00000112238 HGNC:13998 PTF1A gene PTF1A Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pancreatic and cerebellar agenesis, 609069 15543146 False 3 0;0;0 1.86 False ENSG00000168267 ENSG00000168267 HGNC:23734 RARS2 gene RARS2 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Other;Radboud University Medical Center, Nijmegen;UKGTN Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar Hypoplasia type 6;Pontocerebellar Hypoplasia;Pontocerebellar hypoplasia, type 6, 611523 PMID: 17847012; PMID: 25809939; PMID: 20635367;PMID: 17847012; PMID: 25809939; PMID: 20635367 False 3 100;0;0 1.86 False ENSG00000146282 ENSG00000146282 HGNC:21406 RELN gene RELN Emory Genetics Laboratory;Expert Review Green;Literature;Radboud University Medical Center, Nijmegen;UKGTN Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lissencephaly 2, 257320 10973257 False 3 100;0;0 1.86 False ENSG00000189056 ENSG00000189056 HGNC:9957 ROBO3 gene ROBO3 Expert Review Green;Literature Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal " Gaze palsy, familial horizontal, with progressive scoliosis, 1 607313" 15105459; 16525029 False 3 100;0;0 1.86 False ENSG00000154134 ENSG00000154134 HGNC:13433 SEPSECS gene SEPSECS Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Other;Radboud University Medical Center, Nijmegen;UKGTN Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar Hypoplasia type 2D;Pontocerebellar Hypoplasia;Pontocerebellar hypoplasia type 2D, 613811 PMID: 20920667; PMID: 12920088 False 3 0;0;0 1.86 False ENSG00000109618 ENSG00000109618 HGNC:30605 SMPD4 gene SMPD4 Expert Review Green;Research Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal cerebellar hypoplasia, hypomyelination, microcephaly, arthrogryposis, diabetes 31495489 False 3 0;100;0 1.86 False ENSG00000136699 ENSG00000136699 HGNC:32949 SNX14 gene SNX14 Expert Review Green;Literature;UKGTN Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 20, 616354 25439728 False 3 100;0;0 1.86 False ENSG00000135317 ENSG00000135317 HGNC:14977 SPTBN2 gene SPTBN2 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Other;Radboud University Medical Center, Nijmegen;UKGTN Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spinocerebellar ataxia 5, OMIM:600224;Spinocerebellar ataxia, autosomal recessive 14, OMIM:615386 False 3 0;0;0 1.86 False ENSG00000173898 ENSG00000173898 HGNC:11276 TINF2 gene TINF2 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dyskeratosis congenita, autosomal dominant 3 613990 18252230;18979121 False 3 100;0;0 1.86 False ENSG00000092330 ENSG00000092330 HGNC:11824 TMEM5 gene TMEM5 Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type 23217329 False 3 100;0;0 1.86 False ENSG00000118600 ENSG00000118600 HGNC:13530 TOE1 gene TOE1 Expert Review Green;Literature Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 7 614969 28092684 False 3 100;0;0 1.86 True ENSG00000132773 ENSG00000132773 HGNC:15954 TSEN2 gene TSEN2 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Other;Radboud University Medical Center, Nijmegen;UKGTN Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar Hypoplasia type 2B;Pontocerebellar Hypoplasia;Pontocerebellar hypoplasia type 2B,612389 PMID: 18711368; PMID: 23562994; PMID: 20952379 False 3 0;0;0 1.86 False ENSG00000154743 ENSG00000154743 HGNC:28422 TSEN54 gene TSEN54 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Other;Radboud University Medical Center, Nijmegen;UKGTN Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Pontocerebellar hypoplasia type 5, OMIM:610204;Pontocerebellar hypoplasia type 2A, OMIM:277470;Pontocerebellar hypoplasia type 4, OMIM:225753 16470708;18711368;20956791;20952379;20301773 False 3 0;0;0 1.86 False ENSG00000182173 ENSG00000182173 HGNC:27561 TUBA1A gene TUBA1A Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lissencephaly 3 6,1603 17218254, 17584854 False 3 100;0;0 1.86 False ENSG00000167552 ENSG00000167552 HGNC:20766 TUBB2B gene TUBB2B Emory Genetics Laboratory;Expert Review Green;Literature;Radboud University Medical Center, Nijmegen;UKGTN Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical dysplasia, complex, with other brain malformations 7, OMIM:610031 19465910 False 3 100;0;0 1.86 False ENSG00000137285 ENSG00000137285 HGNC:30829 TUBB3 gene TUBB3 Emory Genetics Laboratory;Expert Review Green;Literature;Radboud University Medical Center, Nijmegen;UKGTN Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical dysplasia, complex, with other brain malformations 1 614039 20829227 False 3 100;0;0 1.86 False ENSG00000258947 ENSG00000258947 HGNC:20772 VLDLR gene VLDLR Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050;Cerebellar Hypoplasia 16080122;18364738 False 3 100;0;0 1.86 False ENSG00000147852 ENSG00000147852 HGNC:12698 VRK1 gene VRK1 Illumina TruGenome Clinical Sequencing Services;Literature;Other;Radboud University Medical Center, Nijmegen;UKGTN Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar Hypoplasia type 1A; Pontocerebellar Hypoplasia with infantile SMA; Pontocerebellar Hypoplasia with anterior horn cell disease;Pontocerebellar Hypoplasia;Pontocerebellar hypoplasia type 1A,607596 PMID: 19646678;PMID: 21937992;PMID: 19646678;PMID: 21937992;24126608 False 3 0;100;0 1.86 False ENSG00000100749 ENSG00000100749 HGNC:12718 WDR81 gene WDR81 Expert Review Green;Literature;Radboud University Medical Center, Nijmegen;UKGTN Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 21885617 False 3 100;0;0 1.86 False ENSG00000167716 ENSG00000167716 HGNC:26600 ATP8A2 gene ATP8A2 Expert Review Amber;Literature Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 615268 22892528 False 2 0;100;0 1.86 False ENSG00000132932 ENSG00000132932 HGNC:13533 C16orf62 gene C16orf62 Expert Review Amber;Literature Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 3C/Ritscher-Schinzel-like syndrome 31712251 False 2 0;100;0 1.86 False ENSG00000103544 ENSG00000103544 HGNC:24641 CA8 gene CA8 Expert Review Amber;Literature;Radboud University Medical Center, Nijmegen Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 613227 21885617 False 2 0;0;0 1.86 False ENSG00000178538 ENSG00000178538 HGNC:1382 COASY gene COASY Expert Review Amber;Literature Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Severe prenatal onset pontocerebellar hypoplasia, microcephaly, arthrogryposis 30089828;24360804;27021474;36495139 False 2 0;100;0 1.86 False ENSG00000068120 ENSG00000068120 HGNC:29932 DAG1 gene DAG1 Emory Genetics Laboratory;Expert Review Amber Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders congenital muscular dystrophies False 2 100;0;0 1.86 False ENSG00000173402 ENSG00000173402 HGNC:2666 DCC gene DCC Expert Review Amber;Literature Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Gaze palsy, familial horizontal, with progressive scoliosis 2, 617542 28250456 False 2 0;100;0 1.86 False ENSG00000187323 ENSG00000187323 HGNC:2701 PHGDH gene PHGDH Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neu-Laxova syndrome 1, 256520 24836451 False 2 0;100;0 1.86 False ENSG00000092621 ENSG00000092621 HGNC:8923 TERT gene TERT Illumina TruGenome Clinical Sequencing Services;Literature;UKGTN Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 4, OMIM:613989 17785587;34890115 False 2 0;100;0 1.86 False ENSG00000164362 ENSG00000164362 HGNC:11730 TSEN15 gene TSEN15 Expert Review Amber;Literature Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 2F, OMIM:617026 27392077;25558065 False 2 0;0;0 1.86 False ENSG00000198860 ENSG00000198860 HGNC:16791 TSEN34 gene TSEN34 Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Literature;Other;Radboud University Medical Center, Nijmegen;UKGTN Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2C, OMIM:612390;pontocerebellar hypoplasia type 2C, MONDO:0012891 18711368;20952379 False 2 0;50;50 1.86 False ENSG00000170892 ENSG00000170892 HGNC:15506 TUBA8 gene TUBA8 Emory Genetics Laboratory;Expert Review Amber;Literature;Radboud University Medical Center, Nijmegen Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Polymicrogyria with optic nerve hypoplasia, 613180 19896110, 27781032 False 2 100;0;0 1.86 False ENSG00000183785 ENSG00000183785 HGNC:12410 VPS53 gene VPS53 Expert Review Amber;Literature;Other;UKGTN Cerebellar hypoplasia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar Hypoplasia type 2E;Pontocerebellar Hypoplasia PMID: 24577744 False 2 0;100;0 1.86 False ENSG00000141252 ENSG00000141252 HGNC:25608