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 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