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 ABCD1 gene ABCD1 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Adrenoleukodystrophy, MIM#300100 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000101986 ENSG00000101986 HGNC:61 ABHD16A gene ABHD16A Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 86, autosomal recessive, MIM#619735 PMID: 38168508 False 1 0;0;100 1.389 True ENSG00000204427 ENSG00000204427 HGNC:13921 ACAD9 gene ACAD9 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 20, MIM#611126 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000177646 ENSG00000177646 HGNC:21497 AKT3 gene AKT3 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937 34354878;30542205;32989326 False 1 0;50;50 1.389 True ENSG00000117020 ENSG00000117020 HGNC:393 ALDH7A1 gene ALDH7A1 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, pyridoxine-dependent, MIM#266100 PMID: 39213953 False 1 0;0;100 1.389 True ENSG00000164904 ENSG00000164904 HGNC:877 ARHGEF9 gene ARHGEF9 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Developmental and epileptic encephalopathy 8, MIM#300607 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000131089 ENSG00000131089 HGNC:14561 ARID1B gene ARID1B Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome 1, MIM#135900 PMID: 38693247 False 1 0;100;0 1.389 True ENSG00000049618 ENSG00000049618 HGNC:18040 ARMC9 gene ARMC9 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 30, MIM#617622 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000135931 ENSG00000135931 HGNC:20730 ASL gene ASL Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Argininosuccinic aciduria, MIM#207900 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000126522 ENSG00000126522 HGNC:746 ASPA gene ASPA Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Canavan disease, MIM#271900 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000108381 ENSG00000108381 HGNC:756 ATP1A2 gene ATP1A2 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alternating hemiplegia of childhood 1, MIM#104290 PMID: 38693247 False 1 0;100;0 1.389 True ENSG00000018625 ENSG00000018625 HGNC:800 ATP6V1A gene ATP6V1A Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 93, MIM#618012 PMID: 38693247 False 1 0;100;0 1.389 True ENSG00000114573 ENSG00000114573 HGNC:851 ATP7B gene ATP7B Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Wilson disease MIM#277900 34788679 False 1 0;0;100 1.389 True ENSG00000123191 ENSG00000123191 HGNC:870 ATR gene ATR Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Seckel syndrome, MIM#210600 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000175054 ENSG00000175054 HGNC:882 BSCL2 gene BSCL2 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic paraplegia 17, MIM#270685 PMID: 38693247 False 1 0;100;0 1.389 True ENSG00000168000 ENSG00000168000 HGNC:15832 CACNA1B gene CACNA1B Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, MIM#618497 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000148408 ENSG00000148408 HGNC:1389 CAMK2B gene CAMK2B Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 54, MIM#617799 PMID: 38693247 False 1 0;100;0 1.389 True ENSG00000058404 ENSG00000058404 HGNC:1461 CAMK2G gene CAMK2G Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 59, MIM#618522 PMID: 38693247 False 1 0;100;0 1.389 True ENSG00000148660 ENSG00000148660 HGNC:1463 CCDC22 gene CCDC22 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Ritscher-Schinzel syndrome 2, MIM#300963 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000101997 ENSG00000101997 HGNC:28909 CEP290 gene CEP290 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 5, MIM#610188 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000198707 ENSG00000198707 HGNC:29021 CHCHD10 gene CHCHD10 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myopathy, isolated mitochondrial, MIM#616209 PMID: 38693247 False 1 0;100;0 1.389 True ENSG00000250479 ENSG00000250479 HGNC:15559 CHD3 gene CHD3 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Snijders Blok-Campeau syndrome, MIM#618205 PMID: 38168508 False 1 0;0;100 1.389 True ENSG00000170004 ENSG00000170004 HGNC:1918 CHD4 gene CHD4 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sifrim-Hitz-Weiss syndrome, MIM#617159 PMID: 38693247 False 1 0;100;0 1.389 True ENSG00000111642 ENSG00000111642 HGNC:1919 CLCN4 gene CLCN4 Expert Review Red;Literature Cerebral Palsy 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) Raynaud-Claes syndrome MIM#300114 34788679 False 1 50;50;0 1.389 True ENSG00000073464 ENSG00000073464 HGNC:2022 CLCN7 gene CLCN7 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypopigmentation, organomegaly, and delayed myelination and development, MIM#175780;Osteopetrosis, autosomal recessive 4;OPTB4, MIM#602727 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000103249 ENSG00000103249 HGNC:2025 CLN6 gene CLN6 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neuronal Ceroid Lipofuscinosis 6, MIM#601780 PMID: 39213953 False 1 0;0;100 1.389 True ENSG00000128973 ENSG00000128973 HGNC:2077 COL6A3 gene COL6A3 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dystonia 27, MIM#616411 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000163359 ENSG00000163359 HGNC:2213 COQ4 gene COQ4 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, MIM#616276;Spastic ataxia 10, autosomal recessive, MIM#620666 PMID: 39213953 False 1 0;0;100 1.389 True ENSG00000167113 ENSG00000167113 HGNC:19693 CTCF gene CTCF Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 21, MIM#615502 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000102974 ENSG00000102974 HGNC:13723 CUL3 gene CUL3 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with or without autism or seizures, MIM#619239, Pseudohypoaldosteronism, type IIE, MIM#614496 PMID: 38693247 False 1 0;100;0 1.389 True ENSG00000036257 ENSG00000036257 HGNC:2553 CYFIP2 gene CYFIP2 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 65, MIM#618008 PMID: 38843839 False 1 0;100;0 1.389 True ENSG00000055163 ENSG00000055163 HGNC:13760 DCC gene DCC Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mirror movements 1 and/or agenesis of the corpus callosum, MIM#157600 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000187323 ENSG00000187323 HGNC:2701 DDX59 gene DDX59 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome V, MIM#174300 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000118197 ENSG00000118197 HGNC:25360 DHCR7 gene DHCR7 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Smith-Lemli-Opitz syndrome, MIM#270400 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000172893 ENSG00000172893 HGNC:2860 DIAPH1 gene DIAPH1 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Seizures, cortical blindness, and microcephaly syndrome, MIM#616632 PMID: 38693247;34125151 False 1 0;100;0 1.389 True ENSG00000131504 ENSG00000131504 HGNC:2876 DLG4 gene DLG4 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 62, MIM#618793 PMID: 38693247 False 1 0;100;0 1.389 True ENSG00000132535 ENSG00000132535 HGNC:2903 DNM2 gene DNM2 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, axonal type 2M, MIM#606482 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000079805 ENSG00000079805 HGNC:2974 DNMT3A gene DNMT3A Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Heyn-Sproul-Jackson syndrome, MIM#618724;Tatton-Brown-Rahman syndrome, MIM#615879 PMID: 38693247 False 1 0;100;0 1.389 True ENSG00000119772 ENSG00000119772 HGNC:2978 DUOX2 gene DUOX2 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Thyroid dyshormonogenesis 6, MIM#607200 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000140279 ENSG00000140279 HGNC:13273 EBF3 gene EBF3 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypotonia, ataxia and delayed development syndrome MIM#617330 PMID: 39213953 False 1 0;0;100 1.389 True ENSG00000108001 ENSG00000108001 HGNC:19087 EBP gene EBP Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females MEND syndrome, MIM#300960 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000147155 ENSG00000147155 HGNC:3133 EHMT1 gene EHMT1 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Kleefstra syndrome, MIM#610253 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000181090 ENSG00000181090 HGNC:24650 EPG5 gene EPG5 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Vici syndrome, MIM#242840 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000152223 ENSG00000152223 HGNC:29331 ERLIN2 gene ERLIN2 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 18A, autosomal dominant, MIM#620512;Spastic paraplegia 18B, autosomal recessive, MIM#611225 PMID: 38553553 False 1 0;0;100 1.389 True ENSG00000147475 ENSG00000147475 HGNC:1356 EZH2 gene EZH2 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Weaver syndrome, MIM#277590 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000106462 ENSG00000106462 HGNC:3527 FAM126A gene FAM126A Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating MIM#610532 34788679 False 1 0;100;0 1.389 True ENSG00000122591 ENSG00000122591 HGNC:24587 FAM20C gene FAM20C Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Raine syndrome, MIM#259775 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000177706 ENSG00000177706 HGNC:22140 FGD1 gene FGD1 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Aarskog-Scott syndrome;Intellectual developmental disorder, X-linked syndromic 16, MIM#305400 PMID: 38693247;PMID:33528536 False 1 0;0;100 1.389 True ENSG00000102302 ENSG00000102302 HGNC:3663 FGFR1 gene FGFR1 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hartsfield syndrome, MIM#615465 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000077782 ENSG00000077782 HGNC:3688 FLNA gene FLNA Expert Review Red;Literature Cerebral Palsy 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) Heterotopia, periventricular, 1, MIM#300049 29706646;34077496;25817843 False 1 50;0;50 1.389 True ENSG00000196924 ENSG00000196924 HGNC:3754 FUS gene FUS Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Essential tremor, MIM#614782 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000089280 ENSG00000089280 HGNC:4010 GABBR2 gene GABBR2 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 59, MIM#617904;Neurodevelopmental disorder with poor language and loss of hand skills, MIM#617903 PMID: 38693247 False 1 0;100;0 1.389 True ENSG00000136928 ENSG00000136928 HGNC:4507 GABRB1 gene GABRB1 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy MIM#617153 34540776 False 1 0;0;100 1.389 True ENSG00000163288 ENSG00000163288 HGNC:4081 GAD1 gene GAD1 Expert Review Red;Victorian Clinical Genetics Services Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebral palsy, spastic quadriplegic, 1, MIM#603513 15571623 False 1 0;0;100 1.389 True ENSG00000128683 ENSG00000128683 HGNC:4092 GAMT gene GAMT Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebral creatine deficiency syndrome 2, MIM#612736 PMID: 38693247 False 1 0;100;0 1.389 True ENSG00000130005 ENSG00000130005 HGNC:4136 GATAD2B gene GATAD2B Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted GAND syndrome, MIM#615076 PMID: 38693247 False 1 0;100;0 1.389 True ENSG00000143614 ENSG00000143614 HGNC:30778 GBA gene GBA Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Gaucher disease, MIM#231000 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000177628 ENSG00000177628 HGNC:4177 GFAP gene GFAP Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alexander disease, MIM#203450 PMID: 38843839 False 1 0;0;100 1.389 True ENSG00000131095 ENSG00000131095 HGNC:4235 GRIN2A gene GRIN2A Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, focal, with speech disorder and with or without impaired intellectual development, MIM#245570 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000183454 ENSG00000183454 HGNC:4585 HIVEP2 gene HIVEP2 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 43, MIM#616977 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000010818 ENSG00000010818 HGNC:4921 HPCA gene HPCA Expert list;Expert Review Red Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dystonia 2, torsion, autosomal recessive, MIM#224500 30145809;25799108 False 1 0;0;100 1.389 True ENSG00000121905 ENSG00000121905 HGNC:5144 HSPD1 gene HSPD1 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 4, MIM#612233 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000144381 ENSG00000144381 HGNC:5261 IREB2 gene IREB2 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, MIM#618451 PMID: 39213953 False 1 0;0;100 1.389 True ENSG00000136381 ENSG00000136381 HGNC:6115 KANK1 gene KANK1 Expert Review Red;Victorian Clinical Genetics Services Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebral palsy, spastic quadriplegic, 2, MIM#612900 29729439;30684669;16301218 False 1 0;0;100 1.389 True ENSG00000107104 ENSG00000107104 HGNC:19309 KAT6B gene KAT6B Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted SBBYSS syndrome, MIM#603736;Genitopatellar syndrome, MIM#606170 PMID: 38693247 False 1 0;100;0 1.389 True ENSG00000156650 ENSG00000156650 HGNC:17582 KCNH1 gene KCNH1 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Temple-Baraitser syndrome, MIM#611816;Zimmermann-Laband syndrome 1, MIM#135500 PMID: 38693247 False 1 0;100;0 1.389 True ENSG00000143473 ENSG00000143473 HGNC:6250 KCNK9 gene KCNK9 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Birk-Barel syndrome (KCNK9 imprinting syndrome), MIM#612292 PMID: 39213953 False 1 0;0;100 1.389 True ENSG00000169427 ENSG00000169427 HGNC:6283 KCNQ3 gene KCNQ3 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Seizures, benign neonatal, 2, MIM#121201 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000184156 ENSG00000184156 HGNC:6297 KCNQ5 gene KCNQ5 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 46, MIM#617601 PMID: 38693247 False 1 0;100;0 1.389 True ENSG00000185760 ENSG00000185760 HGNC:6299 KDM3B gene KDM3B Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diets-Jongmans syndrome, MIM#618846 PMID: 38553553 False 1 0;0;100 1.389 True ENSG00000120733 ENSG00000120733 HGNC:1337 KDM7A gene KDM7A Expert list;Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders Unknown Cerebral palsy 25666757 False 1 0;0;100 1.389 True ENSG00000006459 ENSG00000006459 HGNC:22224 KIAA1109 gene KIAA1109 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Alkuraya-Kucinskas syndrome, MIM#617822 PMID: 39213953 False 1 0;0;100 1.389 True ENSG00000138688 ENSG00000138688 HGNC:26953 KIF14 gene KIF14 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly 20, primary, MIM#617914 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000118193 ENSG00000118193 HGNC:19181 KIF5C gene KIF5C Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical dysplasia, complex, with other brain malformations 2 MIM#615282 PMID: 39213953 False 1 0;0;100 1.389 True ENSG00000168280 ENSG00000168280 HGNC:6325 KMT2D gene KMT2D Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Kabuki syndrome 1, MIM#147920 PMID: 38693247 False 1 0;100;0 1.389 True ENSG00000167548 ENSG00000167548 HGNC:7133 LAMA1 gene LAMA1 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Poretti-Boltshauser syndrome, MIM#615960 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000101680 ENSG00000101680 HGNC:6481 LRP2 gene LRP2 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Donnai-Barrow syndrome, MIM#222448 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000081479 ENSG00000081479 HGNC:6694 LZTR1 gene LZTR1 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Noonan syndrome 2, MIM#605275 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000099949 ENSG00000099949 HGNC:6742 MACF1 gene MACF1 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lissencephaly 9 with complex brainstem malformation, MIM#618325 PMID: 38693247 False 1 0;100;0 1.389 True ENSG00000127603 ENSG00000127603 HGNC:13664 MAOB gene MAOB Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebral palsy 31700678 False 1 0;0;100 1.389 True ENSG00000069535 ENSG00000069535 HGNC:6834 MBD5 gene MBD5 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 1, MIM#156200 PMID: 38693247 False 1 0;100;0 1.389 True ENSG00000204406 ENSG00000204406 HGNC:20444 MED13L gene MED13L Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Impaired intellectual development and distinctive facial features with or without cardiac defects, OMIM#616789 PMID: 38693247 False 1 0;100;0 1.389 True ENSG00000123066 ENSG00000123066 HGNC:22962 MFN2 gene MFN2 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, axonal, type 2A2A - #609260;Charcot-Marie-Tooth disease, axonal, type 2A2B - #617087;Hereditary motor and sensory neuropathy VIA - 601152 16437557;21715711;34114234;33528536 False 1 0;67;33 1.389 True ENSG00000116688 ENSG00000116688 HGNC:16877 MLC1 gene MLC1 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Megalencephalic leukoencephalopathy with subcortical cysts MIM#604004 34788679 False 1 0;100;0 1.389 True ENSG00000100427 ENSG00000100427 HGNC:17082 MUT gene MUT Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria, MIM#251000 PMID: 38693247 False 1 0;100;0 1.389 True ENSG00000146085 ENSG00000146085 HGNC:7526 MYH2 gene MYH2 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital myopathy 6 with ophthalmoplegia, MIM#605637 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000125414 ENSG00000125414 HGNC:7572 MYO9A gene MYO9A Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 24, presynaptic, MIM#618198 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000066933 ENSG00000066933 HGNC:7608 NEFL gene NEFL Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, dominant intermediate G, MIM#617882 False 1 0;0;100 1.389 True ENSG00000104725 ENSG00000277586 HGNC:7739 NEXMIF gene NEXMIF Expert list;Expert Review Red Cerebral Palsy 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) X-linked Intellectual disability;epilepsy;autism False 1 0;0;100 1.389 True ENSG00000050030 ENSG00000050030 HGNC:29433 NFE2L2 gene NFE2L2 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency, developmental delay, and hypohomocysteinemia , MIM#617744 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000116044 ENSG00000116044 HGNC:7782 NFIB gene NFIB Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Macrocephaly, acquired, with impaired intellectual development, MIM#618286 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000147862 ENSG00000147862 HGNC:7785 NOTCH1 gene NOTCH1 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Adams-Oliver syndrome 5, MIM#616028 PMID: 38693247 False 1 0;100;0 1.389 True ENSG00000148400 ENSG00000148400 HGNC:7881 NR2F1 gene NR2F1 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM#615722;NR2F1-related neurodevelopmental disorder PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000175745 ENSG00000175745 HGNC:7975 NSD1 gene NSD1 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sotos syndrome, MIM#117550 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000165671 ENSG00000165671 HGNC:14234 NSD2 gene NSD2 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rauch-Steindl syndrome, MIM#619695 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000109685 ENSG00000109685 HGNC:12766 OPHN1 gene OPHN1 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked syndromic, Billuart type, MIM#300486 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000079482 ENSG00000079482 HGNC:8148 PACS1 gene PACS1 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Schuurs-Hoeijmakers syndrome, MIM#615009 PMID: 38693247 False 1 0;100;0 1.389 True ENSG00000175115 ENSG00000175115 HGNC:30032 PCDH19 gene PCDH19 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders Other Developmental and epileptic encephalopathy 9 (OMIM 300088) PMID: 34321325 False 1 0;0;100 1.389 True ENSG00000165194 ENSG00000165194 HGNC:14270 PCLO gene PCLO Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 3, MIM#608027 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000186472 ENSG00000186472 HGNC:13406 PDE10A gene PDE10A Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyskinesia, limb and orofacial, infantile-onset, autosomal recessive, MIM#616921;Striatal degeneration, autosomal dominant, MIM#616922 PMID: 38553553 False 1 0;0;100 1.389 True ENSG00000112541 ENSG00000112541 HGNC:8772 PGAP2 gene PGAP2 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with impaired intellectual development syndrome 3, MIM#614207 PMID: 39213953 False 1 0;0;100 1.389 True ENSG00000148985 ENSG00000148985 HGNC:17893 PHF6 gene PHF6 Expert Review Red;Literature Cerebral Palsy 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) Borjeson-Forssman-Lehmann syndrome, MIM#301900 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000156531 ENSG00000156531 HGNC:18145 PHKA2 gene PHKA2 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Glycogen storage disease, type IXa, 306000 PMID: 38553553 False 1 0;0;100 1.389 True ENSG00000044446 ENSG00000044446 HGNC:8926 PIDD1 gene PIDD1 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, MIM#619827 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000177595 ENSG00000177595 HGNC:16491 PIK3CA gene PIK3CA Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, MIM#602501 PMID: 39213953 False 1 0;0;100 1.389 True ENSG00000121879 ENSG00000121879 HGNC:8975 PMM2 gene PMM2 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ia MIM#212065 34788679 False 1 0;100;0 1.389 True ENSG00000140650 ENSG00000140650 HGNC:9115 POLR2A gene POLR2A Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, MIM#618603 PMID: 38168508 False 1 0;0;100 1.389 True ENSG00000181222 ENSG00000181222 HGNC:9187 PPM1D gene PPM1D Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Jansen-de Vries syndrome, MIM#617450 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000170836 ENSG00000170836 HGNC:9277 PQBP1 gene PQBP1 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Renpenning syndrome, MIM#309500 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000102103 ENSG00000102103 HGNC:9330 PUM1 gene PUM1 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, MIM#620719;Spinocerebellar ataxia 47, MIM#617931 PMID: 39213953 False 1 0;0;100 1.389 True ENSG00000134644 ENSG00000134644 HGNC:14957 RARB gene RARB Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Microphthalmia, syndromic 12, MIM#615524 PMID: 38168508 False 1 0;0;100 1.389 True Other ENSG00000077092 ENSG00000077092 HGNC:9865 ROGDI gene ROGDI Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Kohlschutter-Tonz syndrome, MIM#226750 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000067836 ENSG00000067836 HGNC:29478 RTN4IP1 gene RTN4IP1 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Optic atrophy 10 with or without ataxia, impaired intellectual development, and seizures, MIM#616732 PMID: 39213953 False 1 0;0;100 1.389 True ENSG00000130347 ENSG00000130347 HGNC:18647 RTTN gene RTTN Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, short stature, and polymicrogyria with seizures, MIM#614833 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000176225 ENSG00000176225 HGNC:18654 SETBP1 gene SETBP1 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 29, MIM#616078;Schinzel-Giedion midface retraction syndrome, MIM#269150 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000152217 ENSG00000152217 HGNC:15573 SGCE gene SGCE Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia-11, myoclonic, MIM#159900 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000127990 ENSG00000127990 HGNC:10808 SIK1 gene SIK1 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 30, MIM#616341 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000142178 ENSG00000142178 HGNC:11142 SLC25A12 gene SLC25A12 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 39, MIM#612949 PMID: 31403263;PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000115840 ENSG00000115840 HGNC:10982 SLC35A2 gene SLC35A2 Expert Review Red;Literature Cerebral Palsy 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) Congenital disorder of glycosylation, type IIm, MIM#300896 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000102100 ENSG00000102100 HGNC:11022 SLC6A5 gene SLC6A5 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperekplexia 3, MIM#614618 PMID: 38693247 False 1 0;100;0 1.389 True ENSG00000165970 ENSG00000165970 HGNC:11051 SMARCA2 gene SMARCA2 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Blepharophimosis-impaired intellectual development syndrome, MIM#619293;Nicolaides-Baraitser syndrome, MIM#601358 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000080503 ENSG00000080503 HGNC:11098 SMARCA4 gene SMARCA4 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome 4, MIM#614609 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000127616 ENSG00000127616 HGNC:11100 SMC1A gene SMC1A Expert Review Red;Literature Cerebral Palsy 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) Developmental and epileptic encephalopathy 85, with or without midline brain defects, MIM#301044 PMID: 38693247;26358754 False 1 0;0;100 1.389 True ENSG00000072501 ENSG00000072501 HGNC:11111 SMC3 gene SMC3 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cornelia de Lange syndrome 3, MIM#610759 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000108055 ENSG00000108055 HGNC:2468 SMG8 gene SMG8 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Alzahrani-Kuwahara syndrome, MIM#619268 PMID: 39213953 False 1 0;0;100 1.389 True ENSG00000167447 ENSG00000167447 HGNC:25551 SOX10 gene SOX10 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted PCWH syndrome, MIM#609136;Waardenburg syndrome, type 2E, with or without neurologic involvement, MIM#611584 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000100146 ENSG00000100146 HGNC:11190 SOX2 gene SOX2 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microphthalmia, syndromic 3;Optic nerve hypoplasia and abnormalities of the central nervous system, MIM#206900 PMID: 38553553 False 1 0;0;100 1.389 True ENSG00000181449 ENSG00000181449 HGNC:11195 TANC2 gene TANC2 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with autistic features and language delay, with or without seizures, MIM#618906 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000170921 ENSG00000170921 HGNC:30212 TBCD gene TBCD Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum MIM#617193 PMID: 39213953 False 1 0;0;100 1.389 True ENSG00000141556 ENSG00000141556 HGNC:11581 TBCK gene TBCK Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypotonia, infantiale with psychomotor retardation and characteristic facies 3, MIM#616900 PMID: 39213953 False 1 0;0;100 1.389 True ENSG00000145348 ENSG00000145348 HGNC:28261 TBR1 gene TBR1 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with autism and speech delay, MIM#606053 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000136535 ENSG00000136535 HGNC:11590 TBX6 gene TBX6 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spondylocostal dysostosis 5, MIM#122600 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000149922 ENSG00000149922 HGNC:11605 TENM1 gene TENM1 Expert Review Red;Victorian Clinical Genetics Services Cerebral Palsy Neurology and neurodevelopmental disorders Unknown False 1 0;0;100 1.389 True ENSG00000009694 ENSG00000009694 HGNC:8117 TGM6 gene TGM6 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 35, MIM#613908 PMID: 38693247 False 1 0;100;0 1.389 True ENSG00000166948 ENSG00000166948 HGNC:16255 TOR1A gene TOR1A Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia-1, torsion, MIM#128100 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000136827 ENSG00000136827 HGNC:3098 TRIO gene TRIO Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 44, with microcephaly MIM#617061 PMID: 39213953 False 1 0;0;100 1.389 True ENSG00000038382 ENSG00000038382 HGNC:12303 TRIP12 gene TRIP12 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 49, MIM#617752 PMID: 36747006 False 1 0;0;100 1.389 True ENSG00000153827 ENSG00000153827 HGNC:12306 TRPM3 gene TRPM3 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures (NEDFSS), MIM#620224) PMID: 37684057 False 1 0;0;100 1.389 True ENSG00000083067 ENSG00000083067 HGNC:17992 TSC2 gene TSC2 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tuberous sclerosis-2, MIM#613254 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000103197 ENSG00000103197 HGNC:12363 TSEN54 gene TSEN54 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2, MIM#277470 PMID: 39213953 False 1 0;0;100 1.389 True ENSG00000182173 ENSG00000182173 HGNC:27561 TSHR gene TSHR Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperthyroidism, nonautoimmune, MIM#609152 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000165409 ENSG00000165409 HGNC:12373 TUBG1 gene TUBG1 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical dysplasia, complex, with other brain malformations 4, MIM#615412 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000131462 ENSG00000131462 HGNC:12417 VPS13B gene VPS13B Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cohen syndrome, MIM#216550 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000132549 ENSG00000132549 HGNC:2183 VPS53 gene VPS53 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 2E, MIM#615851 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000141252 ENSG00000141252 HGNC:25608 WDR62 gene WDR62 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM#604317 PMID: 38693247 False 1 0;0;100 1.389 True ENSG00000075702 ENSG00000075702 HGNC:24502 ZBTB18 gene ZBTB18 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 22, MIM#612337 PMID: 38693247 False 1 0;100;0 1.389 True ENSG00000179456 ENSG00000179456 HGNC:13030 ZIC2 gene ZIC2 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly, MIM#609637 PMID: 38553553 False 1 0;0;100 1.389 True ENSG00000043355 ENSG00000043355 HGNC:12873 ZMYM2 gene ZMYM2 Expert Review Red;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, MIM#619522 PMID: 38168508 False 1 0;0;100 1.389 True ENSG00000121741 ENSG00000121741 HGNC:12989