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 ACADM gene ACADM Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450 11263545;35076175;38843839 False 3 50;50;0 1.389 True ENSG00000117054 ENSG00000117054 HGNC:89 ACTB gene ACTB Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Baraitser-Winter syndrome 1 MIM#243310 33528536 False 3 100;0;0 1.389 True ENSG00000075624 ENSG00000075624 HGNC:132 ADAR gene ADAR Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Aicardi-Goutieres syndrome 6, MIM# 615010" 33528536;34702576 False 3 100;0;0 1.389 True ENSG00000160710 ENSG00000160710 HGNC:225 ADAT3 gene ADAT3 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies, MIM# 615286" 35076175;34321325 False 3 100;0;0 1.389 True ENSG00000213638 ENSG00000213638 HGNC:25151 ADCY5 gene ADCY5 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dyskinesia with orofacial involvement MIM#606703 33528536;33098801 False 3 100;0;0 1.389 True Other ENSG00000173175 ENSG00000173175 HGNC:236 ADD3 gene ADD3 Expert Review;Expert Review Green Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Cerebral palsy, spastic quadriplegic, 3 617008" 23836506;29768408 False 3 100;0;0 1.389 True ENSG00000148700 ENSG00000148700 HGNC:245 ADNP gene ADNP Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Helsmoortel-van der Aa syndrome MIM#615873" 33528536 False 3 100;0;0 1.389 True ENSG00000101126 ENSG00000101126 HGNC:15766 AHDC1 gene AHDC1 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Xia-Gibbs syndrome, MIM#615829 33528536 False 3 100;0;0 1.389 True ENSG00000126705 ENSG00000126705 HGNC:25230 ALDH3A2 gene ALDH3A2 Expert list;Expert Review Green Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Sjogren-Larsson syndrome, MIM# 270200" 9027499;9829906;28543186 False 3 100;0;0 1.389 True ENSG00000072210 ENSG00000072210 HGNC:403 ALS2 gene ALS2 Expert Review;Expert Review Green Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spastic paralysis, infantile onset ascending, MIM# 607225" 12145748;33409823;30128655 False 3 100;0;0 1.389 True ENSG00000003393 ENSG00000003393 HGNC:443 AMPD2 gene AMPD2 Expert Review;Expert Review Green Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Pontocerebellar hypoplasia, type 9, MIM# 615809" 23911318;27066553;29761117 False 3 100;0;0 1.389 True ENSG00000116337 ENSG00000116337 HGNC:469 AP4B1 gene AP4B1 Expert Review Green;Victorian Clinical Genetics Services Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 47, autosomal recessive, MIM# 614066 21620353;22290197;24700674;24781758 False 3 100;0;0 1.389 True ENSG00000134262 ENSG00000134262 HGNC:572 AP4E1 gene AP4E1 Expert Review Green;Victorian Clinical Genetics Services Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 51, autosomal recessive, MIM# 613744 20972249;21620353;21937992 False 3 100;0;0 1.389 True ENSG00000081014 ENSG00000081014 HGNC:573 AP4M1 gene AP4M1 Expert Review Green;Victorian Clinical Genetics Services Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 50, autosomal recessive, MIM# 612936 19559397;24065543;25496299;38693247 False 3 100;0;0 1.389 True ENSG00000221838 ENSG00000221838 HGNC:574 AP4S1 gene AP4S1 Expert Review Green;Victorian Clinical Genetics Services Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 52, autosomal recessive, MIM# 614067 27444738;24065543 False 3 100;0;0 1.389 True ENSG00000100478 ENSG00000100478 HGNC:575 ARG1 gene ARG1 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Argininemia MIM#207800 35505270;34788679 False 3 100;0;0 1.389 True ENSG00000118520 ENSG00000118520 HGNC:663 ARID2 gene ARID2 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome, MIM#617808 33528536 False 3 100;0;0 1.389 True ENSG00000189079 ENSG00000189079 HGNC:18037 ARX gene ARX Expert Review;Expert Review Green Cerebral Palsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Developmental and epileptic encephalopathy 1, MIM# 308350;Lissencephaly, X-linked 2, MIM# 300215;Proud syndrome, MIM# 300004" False 3 100;0;0 1.389 True ENSG00000004848 ENSG00000004848 HGNC:18060 ASXL1 gene ASXL1 Expert Review;Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bohring-Opitz syndrome (MIM 605039) 33528536;30542205 False 3 100;0;0 1.389 True ENSG00000171456 ENSG00000171456 HGNC:18318 ASXL3 gene ASXL3 Expert Review;Expert Review Green Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Bainbridge-Ropers syndrome, MIM# 615485" 35863334;33528536 False 3 50;0;50 1.389 True ENSG00000141431 ENSG00000141431 HGNC:29357 ATL1 gene ATL1 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebral palsy;Spastic paraplegia 3A, autosomal dominant (OMIM 182600 ) PMID: 32989326;33528536;34321325 False 3 50;50;0 1.389 True ENSG00000198513 ENSG00000198513 HGNC:11231 ATM gene ATM Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ataxia-telangiectasia, MIM#208900 34364746;26380989;34114234 False 3 100;0;0 1.389 True ENSG00000149311 ENSG00000149311 HGNC:795 ATP1A3 gene ATP1A3 Expert Review;Expert Review Green Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alternating hemiplegia of childhood 2, MIM# 614820;CAPOS syndrome, MIM# 601338;Dystonia-12, MIM# 128235 False 3 50;0;50 1.389 True ENSG00000105409 ENSG00000105409 HGNC:801 ATP7A gene ATP7A Expert Review Green;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) Menkes disease MIM#3094009 35322241;33528536;34788679 False 3 100;0;0 1.389 True ENSG00000165240 ENSG00000165240 HGNC:869 ATP8A2 gene ATP8A2 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome, MIM#615268 35321980;30542205;34077496 False 3 100;0;0 1.389 True ENSG00000132932 ENSG00000132932 HGNC:13533 ATRX gene ATRX Expert Review;Expert Review Green Cerebral Palsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females ATR-X-related syndrome MONDO:0016980 False 3 100;0;0 1.389 True ENSG00000085224 ENSG00000085224 HGNC:886 AUTS2 gene AUTS2 Expert list;Expert Review Green Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 26, MIM# 615834 23332918;27075013 False 3 100;0;0 1.389 True ENSG00000158321 ENSG00000158321 HGNC:14262 BCAP31 gene BCAP31 Expert Review;Expert Review Green Cerebral Palsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Deafness, dystonia, and cerebral hypomyelination, MIM# 300475" 24011989;31330203 False 3 100;0;0 1.389 True ENSG00000185825 ENSG00000185825 HGNC:16695 BCL11A gene BCL11A Expert Review;Expert Review Green Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Dias-Logan syndrome, MIM# 617101" 35856171;33528536;34077496 False 3 50;0;50 1.389 True ENSG00000119866 ENSG00000119866 HGNC:13221 CACNA1A gene CACNA1A Expert Review;Expert Review Green Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Developemental and epileptic encephalopathy 42, MIM# 617106;Episodic ataxia, type 2, MIM# 108500;Spinocerebellar ataxia 6, MIM# 183086" 29761117;33528536;34364746;34531397;34788679 False 3 67;33;0 1.389 True ENSG00000141837 ENSG00000141837 HGNC:1388 CACNA1G gene CACNA1G Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, MIM#618087 PMID: 38693247 False 3 100;0;0 1.389 True ENSG00000006283 ENSG00000006283 HGNC:1394 CAMTA1 gene CAMTA1 Expert list;Expert Review Green Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cerebellar ataxia, nonprogressive, with mental retardation, MIM# 614756" 22693284;24738973 False 3 100;0;0 1.389 True ENSG00000171735 ENSG00000171735 HGNC:18806 CASK gene CASK Expert Review Green;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) Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749 33528536 False 3 100;0;0 1.389 True ENSG00000147044 ENSG00000147044 HGNC:1497 CHD8 gene CHD8 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with autism and macrocephaly #615032 33528536 False 3 100;0;0 1.389 True ENSG00000100888 ENSG00000100888 HGNC:20153 CLTC gene CLTC Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder MIM#617854 33528536;31776469 False 3 100;0;0 1.389 True ENSG00000141367 ENSG00000141367 HGNC:2092 COL4A1 gene COL4A1 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "{Hemorrhage, intracerebral, susceptibility to}, MIM# 614519;Brain small vessel disease MIM#614483" 31700678;17379824;33528536;34531397 False 3 67;33;0 1.389 True ENSG00000187498 ENSG00000187498 HGNC:2202 COL4A2 gene COL4A2 Expert list;Expert Review Green Cerebral Palsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cerebral Palsy;Brain small vessel disease 2 MIM# 614483 33528536;33912663 False 3 100;0;0 1.389 True ENSG00000134871 ENSG00000134871 HGNC:2203 CREBBP gene CREBBP Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Menke-Hennekam syndrome MIM#618332, Rubinstein-Taybi syndrome MIM#180849 33528536;34788679 False 3 100;0;0 1.389 True ENSG00000005339 ENSG00000005339 HGNC:2348 CSMD1 gene CSMD1 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal complex neurodevelopmental disorder MONDO:0100038 PMID: 38816421 False 3 100;0;0 1.389 True ENSG00000183117 ENSG00000183117 HGNC:14026 CTNNA2 gene CTNNA2 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia, complex, with other brain malformations MIM#618174 30013181 False 3 100;0;0 1.389 True ENSG00000066032 ENSG00000066032 HGNC:2510 CTNNB1 gene CTNNB1 Expert Review;Expert Review Green Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Neurodevelopmental disorder with spastic diplegia and visual defects , MIM#615075" False 3 100;0;0 1.389 True ENSG00000168036 ENSG00000168036 HGNC:2514 CYP2U1 gene CYP2U1 Expert list;Expert Review Green Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebral Palsy;Spastic paraplegia 56, autosomal recessive MIM# 615030 33528536;29761117;23176821;38693247 False 3 100;0;0 1.389 True ENSG00000155016 ENSG00000155016 HGNC:20582 DDC gene DDC Expert list;Expert Review Green Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aromatic L-amino acid decarboxylase deficiency MIM# 608643 33528536;30799092;33996177 False 3 0;100;0 1.389 True ENSG00000132437 ENSG00000132437 HGNC:2719 DDHD2 gene DDHD2 Expert list;Expert Review Green Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebral Palsy;Spastic paraplegia 54, autosomal recessive MIM# 615033 30705080;34077496;34321325 False 3 100;0;0 1.389 True ENSG00000085788 ENSG00000085788 HGNC:29106 DDX3X gene DDX3X Expert list;Expert Review Green 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) Cerebral Palsy;Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type MIM# 300958 33528536 False 3 100;0;0 1.389 True ENSG00000215301 ENSG00000215301 HGNC:2745 DOCK6 gene DOCK6 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Adams-Oliver syndrome 2 MIM#614219 25824905;34114234 False 3 100;0;0 1.389 True ENSG00000130158 ENSG00000130158 HGNC:19189 DYNC1H1 gene DYNC1H1 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical dysplasia, complex MIM#614563 33528536;25817843 False 3 100;0;0 1.389 True ENSG00000197102 ENSG00000197102 HGNC:2961 DYRK1A gene DYRK1A Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder MIM#614104 33528536 False 3 100;0;0 1.389 True ENSG00000157540 ENSG00000157540 HGNC:3091 EARS2 gene EARS2 Expert list;Expert Review Green Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebral Palsy;Combined oxidative phosphorylation deficiency 12 MIM# 614924 33528536;34364746 False 3 100;0;0 1.389 True ENSG00000103356 ENSG00000103356 HGNC:29419 ECHS1 gene ECHS1 Expert list;Expert Review Green Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebral Palsy;Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency MIM# 616277 33528536;34364746;32858208 False 3 100;0;0 1.389 True ENSG00000127884 ENSG00000127884 HGNC:3151 ELOVL1 gene ELOVL1 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, MIM# 618527 35379526;30487246;29496980 False 3 100;0;0 1.389 True ENSG00000066322 ENSG00000066322 HGNC:14418 ELP2 gene ELP2 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder MIM#617270 25131622;33976153 False 3 100;0;0 1.389 True ENSG00000134759 ENSG00000134759 HGNC:18248 ERCC8 gene ERCC8 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cockayne syndrome MIM#216400 33528536;30279719;38693247 False 3 100;0;0 1.389 True ENSG00000049167 ENSG00000049167 HGNC:3439 ESAM gene ESAM Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity MIM#620371 36996813 False 3 100;0;0 1.389 True ENSG00000149564 ENSG00000149564 HGNC:17474 EXOSC3 gene EXOSC3 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia MIM#614678 33528536 False 3 100;0;0 1.389 True ENSG00000107371 ENSG00000107371 HGNC:17944 FAR1 gene FAR1 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataracts, spastic paraparesis, and speech delay MIM#619338 33239752 False 3 100;0;0 1.389 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000197601 ENSG00000197601 HGNC:26222 FARS2 gene FARS2 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency MIM#614946;3 Spastic paraplegia MIM#617046 33528536;32989326;25851414 False 3 100;0;0 1.389 True ENSG00000145982 ENSG00000145982 HGNC:21062 FBXO31 gene FBXO31 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebral palsy, MONDO:0006497, FBXO31-related PMID: 32989326 False 3 50;50;0 1.389 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000103264 ENSG00000103264 HGNC:16510 FH gene FH Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Fumarase deficiency MIM#606812 33528536;27541980;1432428 False 3 100;0;0 1.389 True ENSG00000091483 ENSG00000091483 HGNC:3700 FOXG1 gene FOXG1 Expert list;Expert Review Green Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebral Palsy;Rett syndrome, congenital variant MIM# 613454 34077496;33528536 False 3 100;0;0 1.389 True ENSG00000176165 ENSG00000176165 HGNC:3811 GCDH gene GCDH Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glutaric aciduria, type I MIM#231670 30542205;26593172;38693247 False 3 100;0;0 1.389 True ENSG00000105607 ENSG00000105607 HGNC:4189 GCH1 gene GCH1 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Dystonia, DOPA-responsive, MIM#128230;Hyperphenylalaninemia, BH4-deficient, B, MIM#233910 PMID: 21935284;1899474;33875303;34908184 False 3 100;0;0 1.389 True ENSG00000131979 ENSG00000131979 HGNC:4193 GNAO1 gene GNAO1 Expert list;Expert Review Green Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebral Palsy;Neurodevelopmental disorder with involuntary movements MIM# 617493 33528536;34364746;33098801 False 3 100;0;0 1.389 True ENSG00000087258 ENSG00000087258 HGNC:4389 GNB1 gene GNB1 Expert list;Expert Review Green Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebral Palsy;Mental retardation, autosomal dominant 42 MIM# 616973 33528536;32989326;34531397;30194818 False 3 100;0;0 1.389 True ENSG00000078369 ENSG00000078369 HGNC:4396 GRIN1 gene GRIN1 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant MIM#614254 AD" 33528536;34788679 False 3 100;0;0 1.389 True ENSG00000176884 ENSG00000176884 HGNC:4584 GRIN2B gene GRIN2B Expert list;Expert Review Green Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebral Palsy;Developmental and epileptic encephalopathy 27 MIM# 616139;Intellectual developmental disorder, autosomal dominant 6, with or without seizures MIM# 613970 34531397;33528536 False 3 100;0;0 1.389 True ENSG00000273079 ENSG00000273079 HGNC:4586 HECW2 gene HECW2 Expert list;Expert Review Green Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebral Palsy;Neurodevelopmental disorder with hypotonia, seizures, and absent language MIM# 617268 33528536;33098801 False 3 100;0;0 1.389 True ENSG00000138411 ENSG00000138411 HGNC:29853 HPDL gene HPDL Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MIM# 619026;Spastic paraplegia 83, autosomal recessive, MIM# 619027" 33634263;35985664;33634263;32707086 False 3 67;33;0 1.389 True ENSG00000186603 ENSG00000186603 HGNC:28242 HPRT1 gene HPRT1 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Hyperuricemia, HRPT-related MIM#300323;Lesch-Nyhan syndrome MIM#300322 34788679, 30799092 False 3 100;0;0 1.389 True ENSG00000165704 ENSG00000165704 HGNC:5157 IFIH1 gene IFIH1 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 7 MIM#615846 34788679;33177673;33528536 False 3 100;0;0 1.389 True ENSG00000115267 ENSG00000115267 HGNC:18873 IRF2BPL gene IRF2BPL Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures MIM#618088 30057031;30166628 False 3 100;0;0 1.389 True ENSG00000119669 ENSG00000119669 HGNC:14282 ITPR1 gene ITPR1 Expert list;Expert Review Green Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 29, congenital nonprogressive MIM#117360 28826917;25981959;22986007;38693247 False 3 100;0;0 1.389 True ENSG00000150995 ENSG00000150995 HGNC:6180 KAT6A gene KAT6A Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arboleda-Tham syndrome MIM#616268 33528536 False 3 100;0;0 1.389 True ENSG00000083168 ENSG00000083168 HGNC:13013 KCNB1 gene KCNB1 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy MIM#616056 33528536;34788679;38693247;38168508 False 3 50;50;0 1.389 True ENSG00000158445 ENSG00000158445 HGNC:6231 KCNC3 gene KCNC3 Expert list;Expert Review Green Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 13, MIM# 605259 16501573;25497598;25981959;25981959 False 3 100;0;0 1.389 True ENSG00000131398 ENSG00000131398 HGNC:6235 KCNQ2 gene KCNQ2 Expert list;Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 7 - #613720 33557955;32585800;22275249;28655139 False 3 50;50;0 1.389 True ENSG00000075043 ENSG00000075043 HGNC:6296 KCNT1 gene KCNT1 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy MIM#614959 33528536;34788679 False 3 100;0;0 1.389 True ENSG00000107147 ENSG00000107147 HGNC:18865 KDM5C gene KDM5C Expert Review Green;Victorian Clinical Genetics Services 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) Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type MIM# 300534;MONDO:0010355 15586325;32279304 False 3 100;0;0 1.389 True ENSG00000126012 ENSG00000126012 HGNC:11114 KIDINS220 gene KIDINS220 Expert list;Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic paraplegia, intellectual disability, nystagmus, and obesity - #617296;Ventriculomegaly and arthrogryposis - #619501 30542205 False 3 100;0;0 1.389 True ENSG00000134313 ENSG00000134313 HGNC:29508 KIF1A gene KIF1A Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Spastic paraplegia 30, autosomal dominant, MIM# 610357" 31700678 False 3 100;0;0 1.389 True ENSG00000130294 ENSG00000130294 HGNC:888 KMT2A gene KMT2A Expert list;Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Wiedemann-Steiner syndrome - #605130 33528536 False 3 100;0;0 1.389 True ENSG00000118058 ENSG00000118058 HGNC:7132 KMT2B gene KMT2B Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia 28, childhood-onset MIM#617284;Intellectual developmental disorder, autosomal dominant MIM#619934 29697234;33528536;25666757 False 3 67;0;33 1.389 True ENSG00000272333 ENSG00000272333 HGNC:15840 L1CAM gene L1CAM Expert Review Green;Victorian Clinical Genetics Services Cerebral Palsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females CRASH syndrome, MIM# 303350 False 3 100;0;0 1.389 True ENSG00000198910 ENSG00000198910 HGNC:6470 MAP2K1 gene MAP2K1 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiofaciocutaneous syndrome MIM#615279 33528536 False 3 100;0;0 1.389 True ENSG00000169032 ENSG00000169032 HGNC:6840 MCOLN1 gene MCOLN1 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mucolipidosis IV MIM#252650 12182165;21763169 False 3 100;0;0 1.389 True ENSG00000090674 ENSG00000090674 HGNC:13356 MECP2 gene MECP2 Expert list;Expert Review Green;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) Encephalopathy, neonatal severe - 300673;Intellectual developmental disorder, X-linked syndromic, Lubs type - 300260;Intellectual developmental disorder, X-linked, syndromic 13 - 300055;Rett syndrome - 312750 30542205;33528536;38693247 False 3 100;0;0 1.389 True ENSG00000169057 ENSG00000169057 HGNC:6990 MEF2C gene MEF2C Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language MIM#613443 20412115;25817843;33528536 False 3 100;0;0 1.389 True ENSG00000081189 ENSG00000081189 HGNC:6996 MINPP1 gene MINPP1 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 16, MIM# 619527 33257696 False 3 100;0;0 1.389 True ENSG00000107789 ENSG00000107789 HGNC:7102 MOCS2 gene MOCS2 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Molybdenum cofactor deficiency B MIM#252160" 33528536;22759696 False 3 100;0;0 1.389 True ENSG00000164172 ENSG00000164172 HGNC:7193 MSL3 gene MSL3 Expert Review Green;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) Basilicata-Akhtar syndrome MIM#301032 33173220 False 3 100;0;0 1.389 True ENSG00000005302 ENSG00000005302 HGNC:7370 MT-TL1 gene MT-TL1 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MITOCHONDRIAL MELAS MIM#540000 34531397;34077496;25280894 False 3 100;0;0 1.389 True ENSG00000209082 ENSG00000209082 HGNC:7490 NAA10 gene NAA10 Expert Review Green;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) Ogden syndrome MIM#300855 33528536;30542205 False 3 100;0;0 1.389 True ENSG00000102030 ENSG00000102030 HGNC:18704 NDUFAF2 gene NDUFAF2 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebral palsy;Mitochondrial complex I deficiency nuclear type 10 (OMIM 618233) PMID:33528536;PMID:34364746 False 3 100;0;0 1.389 True ENSG00000164182 ENSG00000164182 HGNC:28086 NGLY1 gene NGLY1 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of deglycosylation (OMIM 615273) PMID:33528536 False 3 100;0;0 1.389 True ENSG00000151092 ENSG00000151092 HGNC:17646 NKX2-1 gene NKX2-1 Expert Review Green;Victorian Clinical Genetics Services Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Choreoathetosis, hypothyroidism, and neonatal respiratory distress, MIM# 610978 23911641;11854319;24714694 False 3 100;0;0 1.389 True ENSG00000136352 ENSG00000136352 HGNC:11825 NSRP1 gene NSRP1 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy;Cerebral palsy;microcephaly;Intellectual disability 34385670 False 3 50;50;0 1.389 True ENSG00000126653 ENSG00000126653 HGNC:25305 NT5C2 gene NT5C2 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spastic paraplegia 45, autosomal recessive, MIM# 613162" 31700678;32153630 False 3 100;0;0 1.389 True ENSG00000076685 ENSG00000076685 HGNC:8022 PAFAH1B1 gene PAFAH1B1 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lissencephaly MIM#607432;Subcortical laminar heterotopia MIM#607432 19667223 False 3 100;0;0 1.389 True ENSG00000007168 ENSG00000007168 HGNC:8574 PAK3 gene PAK3 Expert Review Green;Victorian Clinical Genetics Services Cerebral Palsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 30, MIM# 300558 25666757;31444167;30542205;25666757 False 3 50;0;50 1.389 True ENSG00000077264 ENSG00000077264 HGNC:8592 PANK2 gene PANK2 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal HARP syndrome ( OMIM 607236);Neurodegeneration with brain iron accumulation 1 (OMIM 234200) PMID: 33098801;33098801;34114234;25131622 False 3 50;50;0 1.389 True ENSG00000125779 ENSG00000125779 HGNC:15894 PCDH12 gene PCDH12 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Diencephalic-mesencephalic junction dysplasia syndrome 1 (OMIM 251280) PMID: 34321325;PMID: 29556033 False 3 100;0;0 1.389 True ENSG00000113555 ENSG00000113555 HGNC:8657 PCYT2 gene PCYT2 Expert Review Green;Victorian Clinical Genetics Services Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 82, autosomal recessive 618770 31637422 False 3 100;0;0 1.389 True ENSG00000185813 ENSG00000185813 HGNC:8756 PDHA1 gene PDHA1 Expert Review Green;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) Pyruvate dehydrogenase E1-alpha deficiency MIM#312170 33528536;10486093;38693247 False 3 100;0;0 1.389 True ENSG00000131828 ENSG00000131828 HGNC:8806 PDHX gene PDHX Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lacticacidemia due to PDX1 deficiency MIM#245349 33528536;35076175;34540776 False 3 100;0;0 1.389 True ENSG00000110435 ENSG00000110435 HGNC:21350 PHIP gene PHIP Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Chung-Jansen syndrome, MIM#617991 PMID: 38693247 False 3 100;0;0 1.389 True ENSG00000146247 ENSG00000146247 HGNC:15673 PIGA gene PIGA Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Multiple congenital anomalies-hypotonia-seizures syndrome 2 MIM#300868;Neurodevelopmental disorder with epilepsy and haemochromatosis MIM#301072 33528536;24706016;38693247 False 3 100;0;0 1.389 True ENSG00000165195 ENSG00000165195 HGNC:8957 PIGN gene PIGN Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Multiple congenital anomalies-hypotonia-seizures syndrome 1 (OMIM 614080) PMID: 33528536;34540776;38693247 False 3 100;0;0 1.389 True ENSG00000197563 ENSG00000197563 HGNC:8967 PLA2G6 gene PLA2G6 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with brain iron accumulation 2B MIM#610217 33528536;34540776;34788679;38693247 False 3 100;0;0 1.389 True ENSG00000184381 ENSG00000184381 HGNC:9039 PLP1 gene PLP1 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Spastic paraplegia 2, X-linked MIM#312920 33528536;25280894;34816117;38693247 False 3 100;0;0 1.389 True ENSG00000123560 ENSG00000123560 HGNC:9086 POMGNT1 gene POMGNT1 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 MIM# 253280;Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 3 MIM#613151;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 MIM#613157 33528536;17881266;34077496 False 3 100;0;0 1.389 True ENSG00000085998 ENSG00000085998 HGNC:19139 PROC gene PROC Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Thrombophilia 3 due to protein C deficiency MIM#176860;Thrombophilia 3 due to protein C deficiency MIM#612304 31700678;20187890;34531397 False 3 50;50;0 1.389 True ENSG00000115718 ENSG00000115718 HGNC:9451 PRUNE1 gene PRUNE1 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies MIM#617481" 33528536;35379233 False 3 100;0;0 1.389 True ENSG00000143363 ENSG00000143363 HGNC:13420 PURA gene PURA Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (OMIM 616158) PMID: 34077496 False 3 100;0;0 1.389 True ENSG00000185129 ENSG00000185129 HGNC:9701 RAB3GAP1 gene RAB3GAP1 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Martsolf syndrome 2 MIM#619420;Warburg micro syndrome MIM#600118 33528536;16532399;27081543 False 3 100;0;0 1.389 True ENSG00000115839 ENSG00000115839 HGNC:17063 RARS2 gene RARS2 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Pontocerebellar hypoplasia, type 6 MIM#611523" 34077496;34717047 False 3 100;0;0 1.389 True ENSG00000146282 ENSG00000146282 HGNC:21406 RNASEH2A gene RNASEH2A Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 4;OMIM #610333 PMID: 17846997 False 3 100;0;0 1.389 True ENSG00000104889 ENSG00000104889 HGNC:18518 RNASEH2B gene RNASEH2B Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 2;OMIM #610181 17846997;28762473 False 3 100;0;0 1.389 True ENSG00000136104 ENSG00000136104 HGNC:25671 RNASEH2C gene RNASEH2C Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 3;OMIM #610329 PMID: 17846997 False 3 100;0;0 1.389 True ENSG00000172922 ENSG00000172922 HGNC:24116 SACS gene SACS Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic ataxia, Charlevoix-Saguenay type MIM#270550 33528536;34816117;29997391 False 3 100;0;0 1.389 True ENSG00000151835 ENSG00000151835 HGNC:10519 SAMHD1 gene SAMHD1 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 5;OMIM #612952 PMID: 19525956 False 3 100;0;0 1.389 True ENSG00000101347 ENSG00000101347 HGNC:15925 SATB2 gene SATB2 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glass syndrome MIM#612313 33528536;35076175 False 3 100;0;0 1.389 True ENSG00000119042 ENSG00000119042 HGNC:21637 SCN1A gene SCN1A Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 6B, non-Dravet (OMIM 619317);Dravet syndrome (OMIM 607208) PMID: 33528536;PMID: 34364746;PMID: 34114234 False 3 100;0;0 1.389 True ENSG00000144285 ENSG00000144285 HGNC:10585 SCN2A gene SCN2A Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 11 (DEE11), MIM# 613721 33528536;29761117;34114234 False 3 100;0;0 1.389 True ENSG00000136531 ENSG00000136531 HGNC:10588 SCN8A gene SCN8A Expert Review Green;Victorian Clinical Genetics Services Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebral Palsy;Epileptic encephalopathy 13 MIM# 614558;Cognitive impairment with or without cerebellar ataxia MIM# 614306 33528536;32989326;31904124 False 3 100;0;0 1.389 True ENSG00000196876 ENSG00000196876 HGNC:10596 SEPSECS gene SEPSECS Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2D MIM#613811 33528536;35252561;34540776;36085396 False 3 100;0;0 1.389 True ENSG00000109618 ENSG00000109618 HGNC:30605 SLC16A2 gene SLC16A2 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Allan-Herndon-Dudley syndrome MIM#300523 33528536;35076175;25280894 False 3 100;0;0 1.389 True ENSG00000147100 ENSG00000147100 HGNC:10923 SLC2A1 gene SLC2A1 Expert list;Expert Review Green Cerebral Palsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal GLUT1 deficiency syndrome 1, infantile onset, severe, 606777;GLUT1 deficiency syndrome 2, childhood onset, 612126;Disorders of glucose transport 30799092;18451999;20129935;10980529;20221955;31196579 False 3 100;0;0 1.389 True ENSG00000117394 ENSG00000117394 HGNC:11005 SLC5A6 gene SLC5A6 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Parkinsonism-dystonia, infantile, 1 MIM#613135 33528536;21112253;33098801 False 3 100;0;0 1.389 True ENSG00000138074 ENSG00000138074 HGNC:11041 SLITRK2 gene SLITRK2 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked MIM#301107 35840571 False 3 100;0;0 1.389 True ENSG00000185985 ENSG00000185985 HGNC:13449 SPAST gene SPAST Expert list;Expert Review Green Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cerebral Palsy (PMID:32989326) 32989326 False 3 50;50;0 1.389 True ENSG00000021574 ENSG00000021574 HGNC:11233 SPATA5 gene SPATA5 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities MIM#616577 33528536 False 3 100;0;0 1.389 True ENSG00000145375 ENSG00000145375 HGNC:18119 SPATA5L1 gene SPATA5L1 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616 34626583 False 3 100;0;0 1.389 True ENSG00000171763 ENSG00000171763 HGNC:28762 SPG11 gene SPG11 Expert list;Expert Review Green Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spastic paraplegia 11, autosomal recessive, MIM# 604360" 34183250;33581793 False 3 100;0;0 1.389 True ENSG00000104133 ENSG00000104133 HGNC:11226 SPR gene SPR Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dystonia, dopa-responsive, due to sepiapterin reductase deficiency MIM#612716 33528536;34540776;22522443 False 3 100;0;0 1.389 True ENSG00000116096 ENSG00000116096 HGNC:11257 SPTAN1 gene SPTAN1 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 5;OMIM #613477;Hereditary spastic paraplegia MONDO:0019064, SPTAN1-related;Autosomal dominant spastic paraplegia-91, with or without cerebellar ataxia (SPG91), MIM#620538 20493457;33528536;34364746 False 3 100;0;0 1.389 True ENSG00000197694 ENSG00000197694 HGNC:11273 SPTBN2 gene SPTBN2 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Spinocerebellar ataxia 5 MIM#600224;Spinocerebellar ataxia, autosomal recessive 14 MIM#615386 31066025;25981959;31721007;38693247 False 3 100;0;0 1.389 True ENSG00000173898 ENSG00000173898 HGNC:11276 ST3GAL5 gene ST3GAL5 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Salt and pepper developmental regression syndrome MIM#609056 34540776;30185102;25131622;24026681 False 3 100;0;0 1.389 True ENSG00000115525 ENSG00000115525 HGNC:10872 STAMBP gene STAMBP Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly-capillary malformation syndrome MIM#614261 33528536;23542699 False 3 100;0;0 1.389 True ENSG00000124356 ENSG00000124356 HGNC:16950 STXBP1 gene STXBP1 Expert Review;Expert Review Green Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 4, MIM# 612164 29761117 False 3 100;0;0 1.389 True ENSG00000136854 ENSG00000136854 HGNC:11444 SUOX gene SUOX Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Sulfite oxidase deficiency MIM#272300 27289259;34540776 False 3 100;0;0 1.389 True ENSG00000139531 ENSG00000139531 HGNC:11460 SYNGAP1 gene SYNGAP1 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 5 MIM#612621 33528536;31700678 False 3 100;0;0 1.389 True ENSG00000197283 ENSG00000197283 HGNC:11497 TAF1 gene TAF1 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked syndromic 33, OMIM #300966;Dystonia-Parkinsonism, X-linked, OMIM #314250 26637982;33528536;17273961;38693247 False 3 100;0;0 1.389 True ENSG00000147133 ENSG00000147133 HGNC:11535 TCF4 gene TCF4 Expert Review;Expert Review Green Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pitt-Hopkins syndrome, MIM# 610954 False 3 67;33;0 1.389 True ENSG00000196628 ENSG00000196628 HGNC:11634 TH gene TH Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Segawa syndrome, recessive MIM#605407 34788679;38693247;28904579 False 3 50;50;0 1.389 True ENSG00000180176 ENSG00000180176 HGNC:11782 TMX2 gene TMX2 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity MIM#618730 31735293 False 3 100;0;0 1.389 True ENSG00000213593 ENSG00000213593 HGNC:30739 TNR gene TNR Expert list;Expert Review Green Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus, MIM# 619653;Spastic para- or tetraparesis;Axial muscular hypotonia;Intellectual disability;Transient opisthotonus 32099069 False 3 100;0;0 1.389 True ENSG00000116147 ENSG00000116147 HGNC:11953 TRAPPC9 gene TRAPPC9 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Intellectual developmental disorder, autosomal recessive MIM#13 613192" 33528536;34540776;36475161 False 3 100;0;0 1.389 True ENSG00000167632 ENSG00000167632 HGNC:30832 TREX1 gene TREX1 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 1, dominant and recessive, OMIM #225750 17846997;33528536 False 3 100;0;0 1.389 True ENSG00000213689 ENSG00000213689 HGNC:12269 TUBA1A gene TUBA1A Expert Review Green;Victorian Clinical Genetics Services Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lissencephaly 3, MIM# 611603;Cerebral palsy 32989326;25666757 False 3 100;0;0 1.389 True ENSG00000167552 ENSG00000167552 HGNC:20766 TUBB2A gene TUBB2A Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical dysplasia, complex, with other brain malformations MIM# 615763 33528536;24702957 False 3 100;0;0 1.389 True ENSG00000137267 ENSG00000137267 HGNC:12412 TUBB2B gene TUBB2B Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cortical dysplasia, complex, with other brain malformations 7, OMIM # 610031" PMID: 33528536;34077496 False 3 67;0;33 1.389 True ENSG00000137285 ENSG00000137285 HGNC:30829 TUBB3 gene TUBB3 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical dysplasia, complex, with other brain malformations MIM#614039 33528536 False 3 100;0;0 1.389 True ENSG00000258947 ENSG00000258947 HGNC:20772 TUBB4A gene TUBB4A Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia 4, torsion, autosomal dominant, OMIM #128101;Leukodystrophy, hypomyelinating, 6, OMIM # 612438 34531397;33528536;38693247 False 3 100;0;0 1.389 True ENSG00000104833 ENSG00000104833 HGNC:20774 UBE3A gene UBE3A Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Angelman syndrome , OMIM #105830 PMID: 33528536;38693247 False 3 100;0;0 1.389 True ENSG00000114062 ENSG00000114062 HGNC:12496 VPS13D gene VPS13D Expert Review Green;Victorian Clinical Genetics Services Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 4, MIM# 607317 29604224;29518281 False 3 100;0;0 1.389 True ENSG00000048707 ENSG00000048707 HGNC:23595 WDR26 gene WDR26 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Skraban-Deardorff syndrome MIM#617616" 33528536;34788679 False 3 100;0;0 1.389 True ENSG00000162923 ENSG00000162923 HGNC:21208 WDR45 gene WDR45 Expert Review Green;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) Neurodegeneration with brain iron accumulation 5, OMIM # 300894 33528536;34364746 False 3 100;0;0 1.389 True ENSG00000196998 ENSG00000196998 HGNC:28912 WWOX gene WWOX Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy MIM#616211;Spinocerebellar ataxia MIM#6143223 34540776;30361190;33528536 False 3 100;0;0 1.389 True ENSG00000186153 ENSG00000186153 HGNC:12799 ZC4H2 gene ZC4H2 Expert Review Green;Victorian Clinical Genetics Services 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) Wieacker-Wolff syndrome, MIM# 314580 23623388;34322088;33949289;31885220;31206972 False 3 100;0;0 1.389 True ENSG00000126970 ENSG00000126970 HGNC:24931 ZEB2 gene ZEB2 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mowat-Wilson syndrome, OMIM # 235730 33528536;33098801;38693247 False 3 100;0;0 1.389 True ENSG00000169554 ENSG00000169554 HGNC:14881 ZSWIM6 gene ZSWIM6 Expert Review Green;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, OMIM #617865 PMID: 29198722 False 3 100;0;0 1.389 True ENSG00000130449 ENSG00000130449 HGNC:29316 AGAP1 gene AGAP1 Expert Review Amber;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebral palsy, MONDO:0006497, AGAP1-related 31700678;25666757;30472483;36778426 False 2 0;100;0 1.389 True ENSG00000157985 ENSG00000157985 HGNC:16922 ALK gene ALK Expert Review Amber;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic-dystonic diplegia PMID: 32989326 False 2 0;100;0 1.389 True ENSG00000171094 ENSG00000171094 HGNC:427 ARSA gene ARSA Expert Review Amber;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Metachromatic leukodystrophy, MIM#250100 PMID: 38693247 False 2 0;100;0 1.389 True ENSG00000100299 ENSG00000100299 HGNC:713 B4GALNT1 gene B4GALNT1 Expert Review Amber;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 26, autosomal recessive, MIM#609195 PMID: 38693247 False 2 0;100;0 1.389 True ENSG00000135454 ENSG00000135454 HGNC:4117 BRAF gene BRAF Expert Review Amber;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiofaciocutaneous syndrome, MIM#115150 PMID: 39213953 False 2 0;100;0 1.389 True ENSG00000157764 ENSG00000157764 HGNC:1097 BRAT1 gene BRAT1 Expert Review Amber;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with cerebellar atrophy and with or without seizures MIM#618056;neonatal lethal rigidity and multifocal seizure syndrome MIM#614498 29997391 False 2 0;100;0 1.389 True ENSG00000106009 ENSG00000106009 HGNC:21701 CACNA1D gene CACNA1D Expert Review Amber;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Primary aldosteronism, seizures and neurologic abnormalities;PASNA, MIM#615474 PMID: 38693247;23913001 False 2 0;100;0 1.389 True Other ENSG00000157388 ENSG00000157388 HGNC:1391 CDKL5 gene CDKL5 Expert Review Amber;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 2, MIM# 300672" 33528536;34788679;38693247 False 2 0;100;0 1.389 True ENSG00000008086 ENSG00000008086 HGNC:11411 CHD7 gene CHD7 Expert Review Amber;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CHARGE syndrome, MIM#608892 PMID: 38693247 False 2 0;100;0 1.389 True ENSG00000171316 ENSG00000171316 HGNC:20626 CTBP1 gene CTBP1 Expert Review Amber;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome MIM#617915 33528536 False 2 0;100;0 1.389 True ENSG00000159692 ENSG00000159692 HGNC:2494 DHPS gene DHPS Expert Review Amber;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with seizures and speech and walking impairment (NEDSSWI), MIM#618480 PMID: 30661771;38843839 False 2 0;100;0 1.389 True ENSG00000095059 ENSG00000095059 HGNC:2869 DHX32 gene DHX32 Expert Review Amber;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, DHX32-related PMID: 32989326 False 2 0;100;0 1.389 True ENSG00000089876 ENSG00000089876 HGNC:16717 EEF1A2 gene EEF1A2 Expert Review Amber;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy MIM#616409 33528536;30109124;32196822 False 2 50;50;0 1.389 True ENSG00000101210 ENSG00000101210 HGNC:3192 FRRS1L gene FRRS1L Expert Review Amber;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy MIM#616981 33528536;27236917 False 2 67;33;0 1.389 True ENSG00000260230 ENSG00000260230 HGNC:1362 GABRB2 gene GABRB2 Expert Review Amber;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy MIM#617829 33528536 False 2 0;100;0 1.389 True ENSG00000145864 ENSG00000145864 HGNC:4082 GALC gene GALC Expert Review Amber;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Krabbe disease, MIM#245200 PMID: 38693247 False 2 0;100;0 1.389 True ENSG00000054983 ENSG00000054983 HGNC:4115 GSX2 gene GSX2 Expert Review Amber;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Diencephalic-mesencephalic junction dysplasia syndrome 2 618646;Intellectual disability;Dystonia;Spastic tetra paresis" 31412107 False 2 0;100;0 1.389 True ENSG00000180613 ENSG00000180613 HGNC:24959 HCFC1 gene HCFC1 Expert Review Amber;Literature Cerebral Palsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Methylmalonic aciduria and homocysteinemia, cblX type, MIM#309541 PMID: 38693247 False 2 0;100;0 1.389 True ENSG00000172534 ENSG00000172534 HGNC:4839 HUWE1 gene HUWE1 Expert Review Amber;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) Intellectual developmental disorder, X-linked syndromic, Turner type MIM#309590 31700678;38693247 False 2 0;100;0 1.389 True ENSG00000086758 ENSG00000086758 HGNC:30892 IQSEC2 gene IQSEC2 Expert list;Expert Review Amber 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) Intellectual developmental disorder MIM#309530 33368194;20473311;23674175;33528536;38693247 False 2 33;33;33 1.389 True ENSG00000124313 ENSG00000124313 HGNC:29059 MAPK8IP3 gene MAPK8IP3 Expert Review Amber;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with or without variable brain abnormalities, MIM#618443 PMID: 38168508 False 2 0;100;0 1.389 True ENSG00000138834 ENSG00000138834 HGNC:6884 MAST1 gene MAST1 Expert Review Amber;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations MIM#618273 31700678;25666757 False 2 0;100;0 1.389 True ENSG00000105613 ENSG00000105613 HGNC:19034 MCCC2 gene MCCC2 Expert Review Amber;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 3-Methylcrotonyl-CoA carboxylase 2 deficiency, MIM#210210 PMID: 38693247 False 2 0;100;0 1.389 True ENSG00000131844 ENSG00000131844 HGNC:6937 MED12 gene MED12 Expert Review Amber;Literature Cerebral Palsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Opitz-Kaveggia syndrome, MIM#305450 38693247;33528536 False 2 0;100;0 1.389 True ENSG00000184634 ENSG00000184634 HGNC:11957 MMACHC gene MMACHC Expert Review Amber;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400 PMID: 38693247 False 2 0;100;0 1.389 True ENSG00000132763 ENSG00000132763 HGNC:24525 MOCS1 gene MOCS1 Expert Review Amber;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Molybdenum cofactor deficiency A MIM#252150" 22759696;34788679 False 2 50;50;0 1.389 True ENSG00000124615 ENSG00000124615 HGNC:7190 NALCN gene NALCN Expert Review Amber;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebral palsy;Congenital contractures of the limbs and face, hypotonia, and developmental delay (OMIM 616266) PMID:33528536;34364746 False 2 0;100;0 1.389 True ENSG00000102452 ENSG00000102452 HGNC:19082 NDUFA12 gene NDUFA12 Expert Review Amber;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic tetraparesis;intellectual disability;encephalopathy PMID:34364746 False 2 0;100;0 1.389 True ENSG00000184752 ENSG00000184752 HGNC:23987 NFIX gene NFIX Expert Review Amber;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Malan syndrome MIM#614753;Marshall-Smith syndrome MIM#602535 34788679 False 2 0;100;0 1.389 True ENSG00000008441 ENSG00000008441 HGNC:7788 PIK3R2 gene PIK3R2 Expert Review Amber;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, MIM#603387 PMID: 38553553 False 2 0;100;0 1.389 True Other ENSG00000105647 ENSG00000105647 HGNC:8980 PNPLA6 gene PNPLA6 Expert Review Amber;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 39 MIM#612020 34816117;34364746 False 2 0;100;0 1.389 True ENSG00000032444 ENSG00000032444 HGNC:16268 POGZ gene POGZ Expert Review Amber;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "White-Sutton syndrome MIM#616364" 33528536 False 2 0;100;0 1.389 True ENSG00000143442 ENSG00000143442 HGNC:18801 POLA1 gene POLA1 Expert Review Amber;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) Van Esch-O'Driscoll syndrome, MIM#301030 PMID: 38693247 False 2 0;100;0 1.389 True ENSG00000101868 ENSG00000101868 HGNC:9173 POLG gene POLG Expert Review Amber;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 4a, MIM#203700, Mitochondrial DNA Depletion Syndrome 4B, MIM#613662, Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), MIM#607459 PMID: 33528536;PMID: 38693247 False 2 0;100;0 1.389 True ENSG00000140521 ENSG00000140521 HGNC:9179 PTPN11 gene PTPN11 Expert Review Amber;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted LEOPARD syndrome 1 MIM#151100;Noonan syndrome MIM#163950 33528536;23799168 False 2 100;0;0 1.389 True ENSG00000179295 ENSG00000179295 HGNC:9644 PTPN23 gene PTPN23 Expert Review Amber;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity MIM#618890 31395947;25558065;34064836 False 2 0;100;0 1.389 True ENSG00000076201 ENSG00000076201 HGNC:14406 REPS2 gene REPS2 Expert Review Amber;Other Cerebral Palsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females complex neurodevelopmental disorder MONDO:0100038;Cerebral palsy HP:0100021 False 2 0;100;0 1.389 True ENSG00000169891 ENSG00000169891 HGNC:9963 RHOB gene RHOB Expert Review;Expert Review Amber Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cerebral Palsy (PMID:32989326) 32989326 False 2 0;100;0 1.389 True Other ENSG00000143878 ENSG00000143878 HGNC:668 RNU7-1 gene RNU7-1 Expert Review Amber;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Gouti res syndrome 9, MIM#619487 PMID: 39213953 False 2 0;100;0 1.389 True ENSG00000238923 ENSG00000238923 HGNC:34033 SETD2 gene SETD2 Expert Review Amber;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 70, MIM#620157;Luscan-Lumish syndrome, MIM#61683;Rabin-Pappas syndrome, MIM#620155 PMID: 38693247;33528536 False 2 0;100;0 1.389 True ENSG00000181555 ENSG00000181555 HGNC:18420 SHANK3 gene SHANK3 Expert list;Expert Review Amber Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Phelan-McDermid syndrome, MIM# 606232" 17173049;33528536;33098801 False 2 0;50;50 1.389 True ENSG00000251322 ENSG00000251322 HGNC:14294 SLC13A5 gene SLC13A5 Expert Review Amber;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905 34364746;34540776 False 2 0;100;0 1.389 True ENSG00000141485 ENSG00000141485 HGNC:23089 SLC1A2 gene SLC1A2 Expert Review Amber;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 41, MIM#617105 PMID: 38693247;PMID:33528536 False 2 0;100;0 1.389 True ENSG00000110436 ENSG00000110436 HGNC:10940 SMARCB1 gene SMARCB1 Expert list;Expert Review Amber Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Coffin-Siris syndrome 3, MIM# 614608" False 2 0;50;50 1.389 True ENSG00000099956 ENSG00000099956 HGNC:11103 SNX14 gene SNX14 Expert Review Amber;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 20 MIM#616354 34540776;29997391 False 2 0;100;0 1.389 True ENSG00000135317 ENSG00000135317 HGNC:14977 SON gene SON Expert Review Amber;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ZTTK syndrome MIM#617140 33528536 False 2 0;100;0 1.389 True ENSG00000159140 ENSG00000159140 HGNC:11183 SYNE1 gene SYNE1 Expert Review Amber;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 8 MIM#610743 34321325;34816117;38693247;30275942 False 2 33;67;0 1.389 True ENSG00000131018 ENSG00000131018 HGNC:17089 TANGO2 gene TANGO2 Expert Review Amber;Literature Cerebral Palsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration MIM#616878 33528536;34364746 False 2 50;50;0 1.389 True ENSG00000183597 ENSG00000183597 HGNC:25439 TEP1 gene TEP1 Expert Review Amber;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebral palsy, MONDO:0006497, TEP1-related 34543729 False 2 50;50;0 1.389 False ENSG00000129566 ENSG00000129566 HGNC:11726 THOC2 gene THOC2 Expert Review Amber;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) Intellectual developmental disorder, X-linked 12, MIM#300957 PMID: 38168508;PMID: 38693247;PMID: 32116545 False 2 100;0;0 1.389 True ENSG00000125676 ENSG00000125676 HGNC:19073 TSC1 gene TSC1 Expert Review Amber;Literature Cerebral Palsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tuberous sclerosis-1 MIM#191100 29706646;34788679;25817843 False 2 0;100;0 1.389 True ENSG00000165699 ENSG00000165699 HGNC:12362 ZDHHC9 gene ZDHHC9 Expert Review Amber;Literature Cerebral Palsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked syndromic, Raymond type, MIM#300799 33528536;38693247;38553553 False 2 0;100;0 1.389 True ENSG00000188706 ENSG00000188706 HGNC:18475