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 ADAM22 gene ADAM22 Expert Review Green;Literature Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 61 (MIM#617933) 35373813 False 3 100;0;0 1.80 True ENSG00000008277 ENSG00000008277 HGNC:201 ADGRG1 gene ADGRG1 Expert Review;Expert Review Green Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Polymicrogyria, bilateral frontoparietal 606854;Polymicrogyria, bilateral perisylvian 615752" PMID: 20929962;16240336;https://doi.org/10.1080/13816810.2022.2096242 False 3 100;0;0 1.80 True ENSG00000205336 ENSG00000205336 HGNC:4512 AMPD2 gene AMPD2 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 9, MIM# 615809 23911318;27066553 False 3 100;0;0 1.80 True ENSG00000116337 ENSG00000116337 HGNC:469 ATAD3A gene ATAD3A Expert Review;Expert Review Green Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME), MIM# 618810 28549128 False 3 100;0;0 1.80 True ENSG00000197785 ENSG00000197785 HGNC:25567 B3GALNT2 gene B3GALNT2 Expert Review;Expert Review Green Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 615181 PMID: 23453667;29791932 False 3 100;0;0 1.80 True ENSG00000162885 ENSG00000162885 HGNC:28596 BCL11A gene BCL11A Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dias-Logan syndrome, MIM# 617101 27453576;25979662 False 3 100;0;0 1.80 True ENSG00000119866 ENSG00000119866 HGNC:13221 BICD2 gene BICD2 Expert Review Green;Literature Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder, BICD2-related (MONDO#0700092) 35896821 False 3 100;0;0 1.80 True ENSG00000185963 ENSG00000185963 HGNC:17208 BRAT1 gene BRAT1 Expert Review Green;Literature Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056 26483087;26494257;27282546 False 3 100;0;0 1.80 True ENSG00000106009 ENSG00000106009 HGNC:21701 BRF1 gene BRF1 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebellofaciodental syndrome, MIM# 616202 25561519;25561519;27748960 False 3 100;0;0 1.80 True ENSG00000185024 ENSG00000185024 HGNC:11551 CA8 gene CA8 Expert Review;Expert Review Green Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 613227 PMID: 31693170;19461874;23087022 False 3 0;0;0 1.80 True ENSG00000178538 ENSG00000178538 HGNC:1382 CACNA1G gene CACNA1G Expert Review;Expert Review Green Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 618087" PMID: 29878067;31217264;26456284 False 3 100;0;0 1.80 True Other ENSG00000006283 ENSG00000006283 HGNC:1394 CAMK2B gene CAMK2B Expert Review Green;Literature Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Mental retardation, autosomal dominant 54, MIM# 617799;microcephaly;intellectual disability;behavioural problems" 32875707 False 3 100;0;0 1.80 True ENSG00000058404 ENSG00000058404 HGNC:1461 CASK gene CASK Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders Other Mental retardation and microcephaly with pontine and cerebellar hypoplasia, MIM# 300749 False 3 100;0;0 1.80 True ENSG00000147044 ENSG00000147044 HGNC:1497 CHMP1A gene CHMP1A Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 8, MIM# 614961 23023333 False 3 100;0;0 1.80 True ENSG00000131165 ENSG00000131165 HGNC:8740 CHP1 gene CHP1 Expert Review Green;Literature Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 9, autosomal recessive, OMIM #618438 29379881;32787936 False 3 100;0;0 1.80 True ENSG00000187446 ENSG00000187446 HGNC:17433 CLP1 gene CLP1 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 10, MIM# 615803 24766809;29307788 False 3 100;0;0 1.80 True ENSG00000172409 ENSG00000172409 HGNC:16999 COASY gene COASY Expert Review;Expert Review Green Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Neurodegeneration with brain iron accumulation 6 615643;Pontocerebellar hypoplasia, type 12 618266" 30089828;27021474;24360804;35499143 False 3 50;50;0 1.80 True ENSG00000068120 ENSG00000068120 HGNC:29932 CRNKL1 gene CRNKL1 Expert Review Green;Other Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted complex neurodevelopmental disorder MONDO:0100038 False 3 100;0;0 1.80 True ENSG00000101343 ENSG00000101343 HGNC:15762 DKC1 gene DKC1 Expert Review;Expert Review Green Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Dyskeratosis congenita, X-linked 305000;Hoyeraal-Hreidarsson Syndrome" 31269755;26951492;29081935;25940403 False 3 100;0;0 1.80 True ENSG00000130826 ENSG00000130826 HGNC:2890 EEFSEC gene EEFSEC Expert Review Green;Literature Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, EEFSEC-related 39753114 False 3 100;0;0 1.80 True ENSG00000132394 ENSG00000132394 HGNC:24614 EXOSC3 gene EXOSC3 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1B, MIM# 614678 22544365;23284067;24524299 False 3 100;0;0 1.80 True ENSG00000107371 ENSG00000107371 HGNC:17944 EXOSC5 gene EXOSC5 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, MIM# 619576;Short stature;Motor developmental delays;Cerebellar hypoplasia;Ataxia" doi: https://doi.org/10.1101/2020.04.01.839274 False 3 50;50;0 1.80 True ENSG00000077348 ENSG00000077348 HGNC:24662 EXOSC8 gene EXOSC8 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1C, MIM# 616081 24989451 False 3 100;0;0 1.80 True ENSG00000120699 ENSG00000120699 HGNC:17035 EXOSC9 gene EXOSC9 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1D 618065 29727687;30690203 False 3 50;50;0 1.80 True ENSG00000123737 ENSG00000123737 HGNC:9137 FKRP gene FKRP Expert Review;Expert Review Green Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153;Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155;Walker Warburg syndrome" PMID: 16476814;21293871;20236121 False 3 100;0;0 1.80 True ENSG00000181027 ENSG00000181027 HGNC:17997 FTH1 gene FTH1 Expert Review Green;Literature Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodegeneration with brain iron accumulation 9, MIM# 620669 37660254 False 3 50;50;0 1.80 True Other ENSG00000167996 ENSG00000167996 HGNC:3976 GEMIN5 gene GEMIN5 Expert Review Green;Literature Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, OMIM # 619333" 34569062;33963192 False 3 100;0;0 1.80 True ENSG00000082516 ENSG00000082516 HGNC:20043 GMPPB gene GMPPB Expert list;Expert Review Green Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (MIM# 615350);Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 (MIM# 615351);Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (MIM# 615352) PMID: 30257713;30684953;23768512 False 3 100;0;0 1.80 True ENSG00000173540 ENSG00000173540 HGNC:22932 GPAA1 gene GPAA1 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 15, MIM# 617810 29100095;31353022 False 3 100;0;0 1.80 True ENSG00000197858 ENSG00000197858 HGNC:4446 HHAT gene HHAT Expert list;Expert Review Green Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Nivelon-Nivelon-Mabille syndrome 600092 24784881;30912300;33749989 False 3 100;0;0 1.80 True ENSG00000054392 ENSG00000054392 HGNC:18270 INPP4A gene INPP4A Expert Review Green;Literature Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal INPP4A-related neurodevelopmental disorder PMID: 39315527 False 3 100;0;0 1.80 False ENSG00000040933 ENSG00000040933 HGNC:6074 ISPD gene ISPD Expert list;Expert Review Green Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 614643;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 616052;Walker Warburg syndrome" PMID: 22522421;22522420 False 3 100;0;0 1.80 True ENSG00000214960 ENSG00000214960 HGNC:37276 ITPR1 gene ITPR1 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Gillespie syndrome, MIM# 206700 27108797;31340402;30242502;29169895 False 3 100;0;0 1.80 True ENSG00000150995 ENSG00000150995 HGNC:6180 KIAA1109 gene KIAA1109 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Alkuraya-Kucinskas syndrome, MIM# 617822 29290337;30906834 False 3 100;0;0 1.80 True ENSG00000138688 ENSG00000138688 HGNC:26953 LARGE1 gene LARGE1 Expert list;Expert Review Green Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840;Walker Warburg syndrome" 17878207;19067344;24709677 False 3 0;0;0 1.80 True ENSG00000133424 ENSG00000133424 HGNC:6511 MAB21L1 gene MAB21L1 Expert Review Green;Literature Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Cerebellar, ocular, craniofacial, and genital syndrome 618479" 30487245 False 3 100;0;0 1.80 True ENSG00000180660 ENSG00000180660 HGNC:6757 MACF1 gene MACF1 Expert Review;Expert Review Green Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lissencephaly 9 with complex brainstem malformation (MIM#618325) 30471716 False 3 100;0;0 1.80 True Other ENSG00000127603 ENSG00000127603 HGNC:13664 MAN2C1 gene MAN2C1 Expert Review Green;Literature Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of deglycosylation 2, MIM# 619775 35045343 False 3 100;0;0 1.80 True ENSG00000140400 ENSG00000140400 HGNC:6827 MAST1 gene MAST1 Expert list;Expert Review Green Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, MIM# 618273" 30449657 False 3 100;0;0 1.80 True ENSG00000105613 ENSG00000105613 HGNC:19034 MED27 gene MED27 Expert Review Green;Literature Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, MIM# 619286 33443317 False 3 100;0;0 1.80 True ENSG00000160563 ENSG00000160563 HGNC:2377 MINPP1 gene MINPP1 Expert Review Green;Literature Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 16, MIM# 619527 33257696 False 3 100;0;0 1.80 True ENSG00000107789 ENSG00000107789 HGNC:7102 MSL3 gene MSL3 Expert Review Green;Literature Cerebellar and Pontocerebellar Hypoplasia 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) Basilicata-Akhtar syndrome, OMIM # 301032 33173220 False 3 100;0;0 1.80 True ENSG00000005302 ENSG00000005302 HGNC:7370 NOVA2 gene NOVA2 Expert Review Green;Literature Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, OMIM #618859 PMID: 32197073 False 3 100;0;0 1.80 True ENSG00000104967 ENSG00000104967 HGNC:7887 OPHN1 gene OPHN1 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar Hypoplasia 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, MIM# 300486 20528889;9582072;12807966;16221952 False 3 100;0;0 1.80 True ENSG00000079482 ENSG00000079482 HGNC:8148 OXR1 gene OXR1 Expert list;Expert Review Green Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay, MIM# 213000" 31785787 False 3 100;0;0 1.80 True ENSG00000164830 ENSG00000164830 HGNC:15822 PI4KA gene PI4KA Expert list;Expert Review Green Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531" 25855803;34415322 False 3 50;50;0 1.80 True ENSG00000241973 ENSG00000241973 HGNC:8983 PNPLA8 gene PNPLA8 Expert Review Green;Literature Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related PMID: 39082157 False 3 100;0;0 1.80 True ENSG00000135241 ENSG00000135241 HGNC:28900 POMGNT1 gene POMGNT1 Expert Review;Expert Review Green Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 (MIM#253280) 19067344 False 3 100;0;0 1.80 True ENSG00000085998 ENSG00000085998 HGNC:19139 POMGNT2 gene POMGNT2 Expert Review;Expert Review Green Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 (MIM#614830) 22958903;27066570 False 3 100;0;0 1.80 True ENSG00000144647 ENSG00000144647 HGNC:25902 POMT1 gene POMT1 Expert Review;Expert Review Green Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 (MIM#236670);Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1 (MIM#613155) 24491487;31311558 False 3 100;0;0 1.80 True ENSG00000130714 ENSG00000130714 HGNC:9202 POMT2 gene POMT2 Expert Review;Expert Review Green Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 (MIM#613150);Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 (MIM#613156) 15894594;17634419 False 3 100;0;0 1.80 True ENSG00000009830 ENSG00000009830 HGNC:19743 PPIL1 gene PPIL1 Expert Review Green;Literature Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Pontocerebellar hypoplasia, type 14, MIM# 619301;microcephaly;seizures" 33220177 False 3 100;0;0 1.80 True ENSG00000137168 ENSG00000137168 HGNC:9260 PRDM13 gene PRDM13 Expert Review Green;Literature Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 17, MIM# 619909;Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761 PMID: 35390279;34730112 False 3 100;0;0 1.80 True ENSG00000112238 ENSG00000112238 HGNC:13998 PTF1A gene PTF1A Expert list;Expert Review Green Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Pancreatic and cerebellar agenesis, MIM# 609069" 21749365;10507728;15543146;19650412 False 3 100;0;0 1.80 True ENSG00000168267 ENSG00000168267 HGNC:23734 RARS2 gene RARS2 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 6, MIM# 611523 17847012;20635367;25809939 False 3 100;0;0 1.80 True ENSG00000146282 ENSG00000146282 HGNC:21406 RELN gene RELN Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lissencephaly 2 (Norman-Roberts type), MIM# 257320 27000652;35769015 False 3 100;0;0 1.80 True ENSG00000189056 ENSG00000189056 HGNC:9957 RFC4 gene RFC4 Expert Review Green;Literature Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Morimoto-Ryu-Malicdan neuromuscular syndrome, MIM# 621010 PMID: 39106866 False 3 100;0;0 1.80 True ENSG00000163918 ENSG00000163918 HGNC:9972 ROBO3 gene ROBO3 Expert Review;Expert Review Green Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Gaze palsy, familial horizontal, with progressive scoliosis, 1 (MIM#607313) 15105459 False 3 100;0;0 1.80 True ENSG00000154134 ENSG00000154134 HGNC:13433 SEPSECS gene SEPSECS Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2D, MIM# 613811 20920667;25044680;31748115;29464431 False 3 100;0;0 1.80 True ENSG00000109618 ENSG00000109618 HGNC:30605 SLC25A46 gene SLC25A46 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1E, MIM# 619303 27543974;28637197;28376086;26168012 False 3 100;0;0 1.80 True ENSG00000164209 ENSG00000164209 HGNC:25198 SMPD4 gene SMPD4 Expert Review;Expert Review Green Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies (MIM#618622) 31495489 False 3 100;0;0 1.80 True ENSG00000136699 ENSG00000136699 HGNC:32949 SNX14 gene SNX14 Expert Review;Expert Review Green Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 20 (MIM#616354) 25439728;24501761;25848753 False 3 50;50;0 1.80 True ENSG00000135317 ENSG00000135317 HGNC:14977 SPTBN2 gene SPTBN2 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 14, MIM# 615386 23236289;23838597;22781464;33318253 False 3 100;0;0 1.80 True ENSG00000173898 ENSG00000173898 HGNC:11276 TBC1D23 gene TBC1D23 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 11, MIM# 617695 28823707;28823706 False 3 100;0;0 1.80 True ENSG00000036054 ENSG00000036054 HGNC:25622 TBCE gene TBCE Expert Review Green;Literature Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, with amyotrophy and optic atrophy, OMIM #617207 PubMed: 27666369 False 3 100;0;0 1.80 True ENSG00000116957 ENSG00000116957 HGNC:11582 TINF2 gene TINF2 Expert Review;Expert Review Green Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dyskeratosis congenita, autosomal dominant 3 (MIM#613990);Revesz syndrome (MIM#268130) 18252230;18979121;18669893;21477109 False 3 100;0;0 1.80 True ENSG00000092330 ENSG00000092330 HGNC:11824 TMEM5 gene TMEM5 Expert Review;Expert Review Green Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 (MIM#615041) 23217329 False 3 100;0;0 1.80 True ENSG00000118600 ENSG00000118600 HGNC:13530 TOE1 gene TOE1 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 7, MIM# 614969 28092684 False 3 100;0;0 1.80 True ENSG00000132773 ENSG00000132773 HGNC:15954 TSEN15 gene TSEN15 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 2F, MIM# 617026 25558065;27392077 False 3 100;0;0 1.80 True ENSG00000198860 ENSG00000198860 HGNC:16791 TSEN2 gene TSEN2 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2B, MIM# 612389 23562994;20952379 False 3 100;0;0 1.80 True ENSG00000154743 ENSG00000154743 HGNC:28422 TSEN54 gene TSEN54 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2A, MIM# 277470;Pontocerebellar hypoplasia type 4, MIM# 225753 18711368;20956791;20952379 False 3 100;0;0 1.80 True ENSG00000182173 ENSG00000182173 HGNC:27561 TUBB3 gene TUBB3 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039 False 3 100;0;0 1.80 True ENSG00000258947 ENSG00000258947 HGNC:20772 UFM1 gene UFM1 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 14, MIM# 617899 28931644;29868776 False 3 100;0;0 1.80 True ENSG00000120686 ENSG00000120686 HGNC:20597 VLDLR gene VLDLR Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, MIM# 224050 16080122;18326629 False 3 100;0;0 1.80 True ENSG00000147852 ENSG00000147852 HGNC:12698 VPS4A gene VPS4A Expert Review Green;Literature Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CIMDAG syndrome MIM# 619273 33186543;33186545 False 3 100;0;0 1.80 True Other ENSG00000132612 ENSG00000132612 HGNC:13488 VPS53 gene VPS53 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 2E, MIM# 615851 24577744;30100179 False 3 100;0;0 1.80 True ENSG00000141252 ENSG00000141252 HGNC:25608 VRK1 gene VRK1 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 1A, MIM# 607596 19646678;21937992;25609612 False 3 100;0;0 1.80 True ENSG00000100749 ENSG00000100749 HGNC:12718 WDR37 gene WDR37 Expert Review Green;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurooculocardiogenitourinary syndrome (MIM#618652) 31327508 False 3 100;0;0 1.80 True ENSG00000047056 ENSG00000047056 HGNC:31406 WDR81 gene WDR81 Expert Review;Expert Review Green Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 25558065;21885617 False 3 100;0;0 1.80 True ENSG00000167716 ENSG00000167716 HGNC:26600 ATOH1 gene ATOH1 Expert Review;Expert Review Amber;Literature Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia MONDO:0020135, ATOH1-related 35518571 False 2 0;100;0 1.80 True ENSG00000172238 ENSG00000172238 HGNC:797 AUTS2 gene AUTS2 Expert Review Amber;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 26, MIM# 615834 17211639;27075013;22872102;31474318 False 2 0;100;0 1.80 True ENSG00000158321 ENSG00000158321 HGNC:14262 CDK5 gene CDK5 Expert list;Expert Review Amber Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Lissencephaly 7 with cerebellar hypoplasia, MIM# 616342" 25560765;32273484;32097629;28854363;7490100 False 2 0;100;0 1.80 True ENSG00000164885 ENSG00000164885 HGNC:1774 CEP55 gene CEP55 Expert Review Amber;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 236500 28264986;32100459;28295209 False 2 0;100;0 1.80 True ENSG00000138180 ENSG00000138180 HGNC:1161 DDX3X gene DDX3X Expert Review Amber;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders Other Mental retardation, X-linked 102, MIM# 300958 26235985;30936465 False 2 0;100;0 1.80 True ENSG00000215301 ENSG00000215301 HGNC:2745 FKTN gene FKTN Expert Review;Expert Review Amber Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800;Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588;Walker-Warburg syndrome" PMID: 17878207;25821721;19342235;18177472;12601708 False 2 0;100;0 1.80 True ENSG00000106692 ENSG00000106692 HGNC:3622 HEATR5B gene HEATR5B Expert Review Amber;Literature Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal pontocerebellar hypoplasia;intellectual disability;seizures 33824466 False 2 0;100;0 1.80 True ENSG00000008869 ENSG00000008869 HGNC:29273 KAT5 gene KAT5 Expert Review Amber;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB), MIM#619103;Severe global developmental delay;Intellectual disability;Seizures;Microcephaly;Behavioral abnormality;Sleep disturbance;Morphological abnormality of the central nervous system;Short stature;Oral cleft;Abnormality of the face 32822602 False 2 0;100;0 1.80 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000172977 ENSG00000172977 HGNC:5275 KCNC3 gene KCNC3 Expert Review Amber;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 13, MIM# 605259 16501573;25497598;25981959 False 2 0;100;0 1.80 True ENSG00000131398 ENSG00000131398 HGNC:6235 MFN2 gene MFN2 Expert Review Amber;Literature Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease, MONDO:0044970, MFN2-related PMID: 37804319 False 2 0;100;0 1.80 True ENSG00000116688 ENSG00000116688 HGNC:16877 PCLO gene PCLO Expert Review Amber;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 3, MIM#608027 25832664 False 2 0;100;0 1.80 True ENSG00000186472 ENSG00000186472 HGNC:13406 RAB11B gene RAB11B Expert Review Amber;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (MIM#617807) 29106825 False 2 0;100;0 1.80 True ENSG00000185236 ENSG00000185236 HGNC:9761 SETD2 gene SETD2 Expert Review Amber;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Luscan-Lumish syndrome (MIM#616831) 31643139;31474318;26084711 False 2 0;100;0 1.80 True ENSG00000181555 ENSG00000181555 HGNC:18420 TBCK gene TBCK Expert Review Amber;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (MIM#616900) 27040692;30103036;27040691 False 2 0;100;0 1.80 True ENSG00000145348 ENSG00000145348 HGNC:28261 TERT gene TERT Expert Review;Expert Review Amber Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Autosomal Recessive Dyskeratosis Congenita 4 (MIM#613989) 17785587 False 2 0;100;0 1.80 True ENSG00000164362 ENSG00000164362 HGNC:11730 TRIP4 gene TRIP4 Expert Review Amber;Literature Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal cerebellar hypoplasia and spinal muscular atrophy (PCH1) and congenital bone fractures. PMID: 34075209 False 2 0;100;0 1.80 True ENSG00000103671 ENSG00000103671 HGNC:12310 TUBB gene TUBB Expert Review;Expert Review Amber Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cortical dysplasia, complex, with other brain malformations 6 (MIM#615771) 23246003 False 2 0;100;0 1.80 True ENSG00000196230 ENSG00000196230 HGNC:20778 TUBB2B gene TUBB2B Expert Review Amber;Victorian Clinical Genetics Services Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical dysplasia, complex, with other brain malformations 7, MIM# 610031 19465910 False 2 0;100;0 1.80 True ENSG00000137285 ENSG00000137285 HGNC:30829 VPS51 gene VPS51 Expert list;Expert Review Amber Cerebellar and Pontocerebellar Hypoplasia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Pontocerebellar hypoplasia, type 13, MIM# 618606" 30624672;31207318 False 2 0;100;0 1.80 True ENSG00000149823 ENSG00000149823 HGNC:1172