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 ABHD16A gene ABHD16A Expert Review Green;Literature Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 86, autosomal recessive, MIM# 619735;Intellectual Disability;Corpus callosum abnormalities Abnormal corpus callosum morphology;HP:0001273 PMID: 34587489 False 3 100;0;0 0.540 True ENSG00000204427 ENSG00000204427 HGNC:13921 ACTB gene ACTB Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000075624 ENSG00000075624 HGNC:132 ACTG1 gene ACTG1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000184009 ENSG00000184009 HGNC:144 ADD1 gene ADD1 Expert Review Green;Literature Callosome Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Neurodevelopmental disorder MONDO:0700092, ADD1-related;Intellectual disability, corpus callosum dysgenesis, and ventriculomegaly;no OMIM # Abnormal corpus callosum morphology;HP:0001273 PMID: 34906466 False 3 100;0;0 0.540 True ENSG00000087274 ENSG00000087274 HGNC:243 ADGRG1 gene ADGRG1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000205336 ENSG00000205336 HGNC:4512 AHI1 gene AHI1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000135541 ENSG00000135541 HGNC:21575 AIFM1 gene AIFM1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000156709 ENSG00000156709 HGNC:8768 AKT3 gene AKT3 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000117020 ENSG00000117020 HGNC:393 ALX3 gene ALX3 Expert Review Green;Genetic Health Queensland;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 100;0;0 0.540 False ENSG00000156150 ENSG00000156150 HGNC:449 ALX4 gene ALX4 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000052850 ENSG00000052850 HGNC:450 AMER1 gene AMER1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000184675 ENSG00000184675 HGNC:26837 AMPD2 gene AMPD2 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000116337 ENSG00000116337 HGNC:469 AMT gene AMT Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycine encephalopathy MIM#605899 Abnormal corpus callosum morphology;HP:0001273 33791923 False 3 100;0;0 0.540 True ENSG00000145020 ENSG00000145020 HGNC:473 ANK2 gene ANK2 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000145362 ENSG00000145362 HGNC:493 ANOS1 gene ANOS1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000011201 ENSG00000011201 HGNC:6211 APP gene APP Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000142192 ENSG00000142192 HGNC:620 ARFGEF2 gene ARFGEF2 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000124198 ENSG00000124198 HGNC:15853 ARHGAP31 gene ARHGAP31 Expert Review Green;Genetic Health Queensland;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;100;0 0.540 False ENSG00000031081 ENSG00000031081 HGNC:29216 ARID1A gene ARID1A Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000117713 ENSG00000117713 HGNC:11110 ARID1B gene ARID1B Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000049618 ENSG00000049618 HGNC:18040 ARX gene ARX Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000004848 ENSG00000004848 HGNC:18060 ASPM gene ASPM Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly 5, primary, autosomal recessive, MIM#608716 Abnormal corpus callosum morphology;HP:0001273 29243349;19028728 False 3 100;0;0 0.540 True ENSG00000066279 ENSG00000066279 HGNC:19048 ASTN1 gene ASTN1 Expert list;Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 100;0;0 0.540 False ENSG00000152092 ENSG00000152092 HGNC:773 ASXL1 gene ASXL1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000171456 ENSG00000171456 HGNC:18318 ASXL3 gene ASXL3 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bainbridge-Ropers syndrome (OMIM # 615485) Abnormal corpus callosum morphology;HP:0001273 28100473;27901041;23383720 False 3 100;0;0 0.540 True ENSG00000141431 ENSG00000141431 HGNC:29357 ATP6V0A2 gene ATP6V0A2 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000185344 ENSG00000185344 HGNC:18481 ATP6V0C gene ATP6V0C Expert Review Green;Literature Callosome Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, early-onset, with or without developmental delay, MIM#620465;neurodevelopmental disorder (MONDO:0700092), ATP6V0C-related Abnormal corpus callosum morphology;HP:0001273 PMID:36074901 False 3 100;0;0 0.540 True ENSG00000185883 ENSG00000185883 HGNC:855 ATP7A gene ATP7A Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000165240 ENSG00000165240 HGNC:869 ATR gene ATR Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000175054 ENSG00000175054 HGNC:882 ATRX gene ATRX Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000085224 ENSG00000085224 HGNC:886 B3GALNT2 gene B3GALNT2 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000162885 ENSG00000162885 HGNC:28596 B3GLCT gene B3GLCT Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000187676 ENSG00000187676 HGNC:20207 B4GAT1 gene B4GAT1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287 Abnormal corpus callosum morphology;HP:0001273 23359570;23877401;23359570;23217742 False 3 100;0;0 0.540 True ENSG00000174684 ENSG00000174684 HGNC:15685 BCAS3 gene BCAS3 Expert Review Green;Literature Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hengel-Maroofian-Schols syndrome, MIM# 619641 Abnormal corpus callosum morphology;HP:0001273 34022130 False 3 100;0;0 0.540 True ENSG00000141376 ENSG00000141376 HGNC:14347 BCS1L gene BCS1L Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000074582 ENSG00000074582 HGNC:1020 BHLHE22 gene BHLHE22 Expert Review Green;Literature Callosome Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, BHLHE22-related Abnormal corpus callosum morphology;HP:0001273 39502664 False 3 100;0;0 0.540 True ENSG00000180828 ENSG00000180828 HGNC:11963 BMP4 gene BMP4 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000125378 ENSG00000125378 HGNC:1071 BRAF gene BRAF Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000157764 ENSG00000157764 HGNC:1097 BUB1B gene BUB1B Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000156970 ENSG00000156970 HGNC:1149 C12orf57 gene C12orf57 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000111678 ENSG00000111678 HGNC:29521 C12orf65 gene C12orf65 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000130921 ENSG00000130921 HGNC:26784 C2CD3 gene C2CD3 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000168014 ENSG00000168014 HGNC:24564 C5orf42 gene C5orf42 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000197603 ENSG00000197603 HGNC:25801 CAMSAP1 gene CAMSAP1 Expert Review Green;Literature Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia, complex, with other brain malformations 12, MIM# 620316 Abnormal corpus callosum morphology;HP:0001273 36283405 False 3 100;0;0 0.540 True ENSG00000130559 ENSG00000130559 HGNC:19946 CASK gene CASK Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000147044 ENSG00000147044 HGNC:1497 CCND2 gene CCND2 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000118971 ENSG00000118971 HGNC:1583 CDH2 gene CDH2 Expert Review Green;Literature Callosome Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Intellectual disability;corpus callosum abnormalities;congenital abnormalities;Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MIM# 618929" Abnormal corpus callosum morphology;HP:0001273 31585109 False 3 100;0;0 0.540 True ENSG00000170558 ENSG00000170558 HGNC:1759 CDON gene CDON Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000064309 ENSG00000064309 HGNC:17104 CENPF gene CENPF Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000117724 ENSG00000117724 HGNC:1857 CHD4 gene CHD4 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000111642 ENSG00000111642 HGNC:1919 CHD7 gene CHD7 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000171316 ENSG00000171316 HGNC:20626 CHMP1A gene CHMP1A Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000131165 ENSG00000131165 HGNC:8740 CLCN3 gene CLCN3 Expert Review Green;Literature Callosome Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia and brain abnormalities, MIM# 619512 Abnormal corpus callosum morphology;HP:0001273 34186028 False 3 100;0;0 0.540 True Other ENSG00000109572 ENSG00000109572 HGNC:2021 CPT2 gene CPT2 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000157184 ENSG00000157184 HGNC:2330 CREBBP gene CREBBP Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000005339 ENSG00000005339 HGNC:2348 CSMD1 gene CSMD1 Expert Review Green;Literature Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal complex neurodevelopmental disorder MONDO:0100038 Abnormal corpus callosum morphology;HP:0001273 PMID: 38816421 False 3 100;0;0 0.540 True ENSG00000183117 ENSG00000183117 HGNC:14026 CTNNA2 gene CTNNA2 Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia, complex, with other brain malformations 9, MIM#618174 Abnormal corpus callosum morphology;HP:0001273 30013181 False 3 100;0;0 0.540 True ENSG00000066032 ENSG00000066032 HGNC:2510 CTNNB1 gene CTNNB1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000168036 ENSG00000168036 HGNC:2514 CTU2 gene CTU2 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000174177 ENSG00000174177 HGNC:28005 CUL4B gene CUL4B Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000158290 ENSG00000158290 HGNC:2555 CWF19L1 gene CWF19L1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000095485 ENSG00000095485 HGNC:25613 DCC gene DCC Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Agenesis of the corpus callosum Abnormal corpus callosum morphology;HP:0001273 31697046 False 3 100;0;0 0.540 True ENSG00000187323 ENSG00000187323 HGNC:2701 DCHS1 gene DCHS1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000166341 ENSG00000166341 HGNC:13681 DCX gene DCX Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000077279 ENSG00000077279 HGNC:2714 DDC gene DDC Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000132437 ENSG00000132437 HGNC:2719 DHCR24 gene DHCR24 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000116133 ENSG00000116133 HGNC:2859 DHCR7 gene DHCR7 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000172893 ENSG00000172893 HGNC:2860 DIS3L2 gene DIS3L2 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000144535 ENSG00000144535 HGNC:28648 DISC1 gene DISC1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000162946 ENSG00000162946 HGNC:2888 DLAT gene DLAT Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000150768 ENSG00000150768 HGNC:2896 DLD gene DLD Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000091140 ENSG00000091140 HGNC:2898 DLL1 gene DLL1 Expert list;Expert Review Green Callosome Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, MIM# 618709 Abnormal corpus callosum morphology;HP:0001273 31353024 False 3 100;0;0 0.540 True ENSG00000198719 ENSG00000198719 HGNC:2908 DOCK6 gene DOCK6 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000130158 ENSG00000130158 HGNC:19189 DPYD gene DPYD Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000188641 ENSG00000188641 HGNC:3012 DPYSL5 gene DPYSL5 Expert Review Green;Literature Callosome Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ritscher-Schinzel syndrome 4, MIM# 619435;Neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities Abnormal corpus callosum morphology;HP:0001273 33894126 False 3 100;0;0 0.540 True ENSG00000157851 ENSG00000157851 HGNC:20637 DSCAM gene DSCAM Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000171587 ENSG00000171587 HGNC:3039 DYNC1H1 gene DYNC1H1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000197102 ENSG00000197102 HGNC:2961 EARS2 gene EARS2 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leigh syndrome MONDO:0009723;Combined oxidative phosphorylation deficiency 12 MIM#614924;leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome MONDO:0013971 Abnormal corpus callosum morphology;HP:0001273 22492562;23008233;25854774;26619324;26893310;27206875;27571996;27117034 False 3 100;0;0 0.540 True ENSG00000103356 ENSG00000103356 HGNC:29419 EBP gene EBP Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000147155 ENSG00000147155 HGNC:3133 EFNB1 gene EFNB1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000090776 ENSG00000090776 HGNC:3226 EFTUD2 gene EFTUD2 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000108883 ENSG00000108883 HGNC:30858 EP300 gene EP300 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000100393 ENSG00000100393 HGNC:3373 EPG5 gene EPG5 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Vici syndrome, MIM# 242840 Abnormal corpus callosum morphology;HP:0001273 23222957;26917586 False 3 100;0;0 0.540 True ENSG00000152223 ENSG00000152223 HGNC:29331 ERCC1 gene ERCC1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000012061 ENSG00000012061 HGNC:3433 ERCC2 gene ERCC2 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000104884 ENSG00000104884 HGNC:3434 ERCC5 gene ERCC5 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000134899 ENSG00000134899 HGNC:3437 ERCC6 gene ERCC6 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000225830 ENSG00000225830 HGNC:3438 ERLIN2 gene ERLIN2 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000147475 ENSG00000147475 HGNC:1356 EXOSC3 gene EXOSC3 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000107371 ENSG00000107371 HGNC:17944 FA2H gene FA2H Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000103089 ENSG00000103089 HGNC:21197 FARS2 gene FARS2 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000145982 ENSG00000145982 HGNC:21062 FAT4 gene FAT4 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000196159 ENSG00000196159 HGNC:23109 FGF17 gene FGF17 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000158815 ENSG00000158815 HGNC:3673 FGF8 gene FGF8 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000107831 ENSG00000107831 HGNC:3686 FGFR1 gene FGFR1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000077782 ENSG00000077782 HGNC:3688 FGFR2 gene FGFR2 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000066468 ENSG00000066468 HGNC:3689 FGFR3 gene FGFR3 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000068078 ENSG00000068078 HGNC:3690 FH gene FH Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000091483 ENSG00000091483 HGNC:3700 FIG4 gene FIG4 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000112367 ENSG00000112367 HGNC:16873 FKRP gene FKRP Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000181027 ENSG00000181027 HGNC:17997 FKTN gene FKTN Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000106692 ENSG00000106692 HGNC:3622 FLNA gene FLNA Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000196924 ENSG00000196924 HGNC:3754 FLVCR2 gene FLVCR2 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000119686 ENSG00000119686 HGNC:20105 FOXC1 gene FOXC1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000054598 ENSG00000054598 HGNC:3800 FOXG1 gene FOXG1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000176165 ENSG00000176165 HGNC:3811 FOXN1 gene FOXN1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000109101 ENSG00000109101 HGNC:12765 FOXRED1 gene FOXRED1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000110074 ENSG00000110074 HGNC:26927 FRA10AC1 gene FRA10AC1 Expert Review Green;Literature Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113 Abnormal corpus callosum morphology;HP:0001273 34694367 False 3 100;0;0 0.540 True ENSG00000148690 ENSG00000148690 HGNC:1162 FRAS1 gene FRAS1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000138759 ENSG00000138759 HGNC:19185 FREM2 gene FREM2 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000150893 ENSG00000150893 HGNC:25396 GALC gene GALC Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000054983 ENSG00000054983 HGNC:4115 GFM1 gene GFM1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000168827 ENSG00000168827 HGNC:13780 GHRHR gene GHRHR Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000106128 ENSG00000106128 HGNC:4266 GLDC gene GLDC Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000178445 ENSG00000178445 HGNC:4313 GLI2 gene GLI2 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000074047 ENSG00000074047 HGNC:4318 GLI3 gene GLI3 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000106571 ENSG00000106571 HGNC:4319 GLUL gene GLUL Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000135821 ENSG00000135821 HGNC:4341 GMPPB gene GMPPB Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000173540 ENSG00000173540 HGNC:22932 GPC3 gene GPC3 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000147257 ENSG00000147257 HGNC:4451 GPSM2 gene GPSM2 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Chudley-McCullough syndrome, MIM# 604213 Abnormal corpus callosum morphology;HP:0001273 20602914;22578326;28387217;27180139;27064331 False 3 100;0;0 0.540 True ENSG00000121957 ENSG00000121957 HGNC:29501 HCCS gene HCCS Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000004961 ENSG00000004961 HGNC:4837 HEPACAM gene HEPACAM Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000165478 ENSG00000165478 HGNC:26361 HESX1 gene HESX1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000163666 ENSG00000163666 HGNC:4877 HIBCH gene HIBCH Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000198130 ENSG00000198130 HGNC:4908 HID1 gene HID1 Expert Review Green;Literature Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Syndromic infantile encephalopathy;Hypopituitarism Abnormal corpus callosum morphology;HP:0001273 33999436 False 3 100;0;0 0.540 False ENSG00000167861 ENSG00000167861 HGNC:15736 HRAS gene HRAS Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000174775 ENSG00000174775 HGNC:5173 HSD17B4 gene HSD17B4 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000133835 ENSG00000133835 HGNC:5213 ICK gene ICK Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000112144 ENSG00000112144 HGNC:21219 IGF1 gene IGF1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000017427 ENSG00000017427 HGNC:5464 INPP5E gene INPP5E Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000148384 ENSG00000148384 HGNC:21474 ISPD gene ISPD Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000214960 ENSG00000214960 HGNC:37276 KAT6B gene KAT6B Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000156650 ENSG00000156650 HGNC:17582 KCNT1 gene KCNT1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000107147 ENSG00000107147 HGNC:18865 KIAA0586 gene KIAA0586 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000100578 ENSG00000100578 HGNC:19960 KIF14 gene KIF14 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000118193 ENSG00000118193 HGNC:19181 KIF1BP gene KIF1BP Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000198954 ENSG00000198954 HGNC:23419 KIF5C gene KIF5C Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical dysplasia, complex, with other brain malformations 2, MIM# 615282 Abnormal corpus callosum morphology;HP:0001273 23603762;23033978;32562872 False 3 100;0;0 0.540 True ENSG00000168280 ENSG00000168280 HGNC:6325 KIF7 gene KIF7 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000166813 ENSG00000166813 HGNC:30497 KISS1R gene KISS1R Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000116014 ENSG00000116014 HGNC:4510 KNL1 gene KNL1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000137812 ENSG00000137812 HGNC:24054 KRAS gene KRAS Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000133703 ENSG00000133703 HGNC:6407 L1CAM gene L1CAM Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000198910 ENSG00000198910 HGNC:6470 L2HGDH gene L2HGDH Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000087299 ENSG00000087299 HGNC:20499 LAMB1 gene LAMB1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000091136 ENSG00000091136 HGNC:6486 LAMC3 gene LAMC3 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000050555 ENSG00000050555 HGNC:6494 LARGE1 gene LARGE1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000133424 ENSG00000133424 HGNC:6511 LNPK gene LNPK Expert Review Green;Literature Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090 Abnormal corpus callosum morphology;HP:0001273 PMID: 35599435, 30032983;https://academic.oup.com/braincomms/advance-article/doi/10.1093/braincomms/fcad222/7243438?login=true False 3 100;0;0 0.540 True ENSG00000144320 ENSG00000144320 HGNC:21610 LRP2 gene LRP2 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Donnai-Barrow syndrome, MIM#222448 Abnormal corpus callosum morphology;HP:0001273 17632512 False 3 100;0;0 0.540 True ENSG00000081479 ENSG00000081479 HGNC:6694 LZTR1 gene LZTR1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000099949 ENSG00000099949 HGNC:6742 MAP2K1 gene MAP2K1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000169032 ENSG00000169032 HGNC:6840 MAP2K2 gene MAP2K2 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000126934 ENSG00000126934 HGNC:6842 MAST1 gene MAST1 Expert Review Green;Literature Callosome Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations;OMIM #618273 Abnormal corpus callosum morphology;HP:0001273 31721002;30449657 False 3 100;0;0 0.540 True ENSG00000105613 ENSG00000105613 HGNC:19034 MBTPS2 gene MBTPS2 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000012174 ENSG00000012174 HGNC:15455 MED12 gene MED12 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000184634 ENSG00000184634 HGNC:11957 MEF2C gene MEF2C Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000081189 ENSG00000081189 HGNC:6996 MID1 gene MID1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000101871 ENSG00000101871 HGNC:7095 MLC1 gene MLC1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000100427 ENSG00000100427 HGNC:17082 MRPS22 gene MRPS22 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000175110 ENSG00000175110 HGNC:14508 MTFMT gene MTFMT Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000103707 ENSG00000103707 HGNC:29666 MTOR gene MTOR Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000198793 ENSG00000198793 HGNC:3942 MYCBP2 gene MYCBP2 Expert Review Green;Literature Callosome Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, MYCBP2-related;corpus callosum abnormalities Abnormal corpus callosum morphology;HP:0001273 PMID: 36200388 False 3 100;0;0 0.540 True ENSG00000005810 ENSG00000005810 HGNC:23386 MYCN gene MYCN Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000134323 ENSG00000134323 HGNC:7559 NAA10 gene NAA10 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000102030 ENSG00000102030 HGNC:18704 NBN gene NBN Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000104320 ENSG00000104320 HGNC:7652 NDE1 gene NDE1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000072864 ENSG00000072864 HGNC:17619 NDUFA1 gene NDUFA1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000125356 ENSG00000125356 HGNC:7683 NDUFA2 gene NDUFA2 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235 Abnormal corpus callosum morphology;HP:0001273 28857146;32154054;18513682 False 3 100;0;0 0.540 True ENSG00000131495 ENSG00000131495 HGNC:7685 NDUFAF5 gene NDUFAF5 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000101247 ENSG00000101247 HGNC:15899 NDUFAF6 gene NDUFAF6 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000156170 ENSG00000156170 HGNC:28625 NDUFS1 gene NDUFS1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226 Abnormal corpus callosum morphology;HP:0001273 24952175;20382551;21203893 False 3 100;0;0 0.540 True ENSG00000023228 ENSG00000023228 HGNC:7707 NDUFS7 gene NDUFS7 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000115286 ENSG00000115286 HGNC:7714 NDUFS8 gene NDUFS8 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000110717 ENSG00000110717 HGNC:7715 NDUFV1 gene NDUFV1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000167792 ENSG00000167792 HGNC:7716 NF1 gene NF1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000196712 ENSG00000196712 HGNC:7765 NFIA gene NFIA Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brain malformations with or without urinary tract defects - MIM#613735 Abnormal corpus callosum morphology;HP:0001273 35018717;33973697;32926563 False 3 100;0;0 0.540 True ENSG00000162599 ENSG00000162599 HGNC:7784 NFIX gene NFIX Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000008441 ENSG00000008441 HGNC:7788 NONO gene NONO Expert Review Green;Literature Callosome Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked syndromic 34 - MIM#300967 Abnormal corpus callosum morphology;HP:0001273 26571461;27329731;27550220 False 3 100;0;0 0.540 True ENSG00000147140 ENSG00000147140 HGNC:7871 NRAS gene NRAS Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000213281 ENSG00000213281 HGNC:7989 NSD1 gene NSD1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000165671 ENSG00000165671 HGNC:14234 NUBPL gene NUBPL Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 21 - MIM#618242 Abnormal corpus callosum morphology;HP:0001273 31917109;23553477 False 3 100;0;0 0.540 True ENSG00000151413 ENSG00000151413 HGNC:20278 NUDT2 gene NUDT2 Expert Review Green;Literature Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with or without peripheral neuropathy MIM#619844 Abnormal corpus callosum morphology;HP:0001273 PMID: 38141063 False 3 100;0;0 0.540 True ENSG00000164978 ENSG00000164978 HGNC:8049 OCLN gene OCLN Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000197822 ENSG00000197822 HGNC:8104 OFD1 gene OFD1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000046651 ENSG00000046651 HGNC:2567 OTX2 gene OTX2 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000165588 ENSG00000165588 HGNC:8522 PAFAH1B1 gene PAFAH1B1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lissencephaly 1, MIM# 607432;Subcortical laminar heterotopia, MIM# 607432;MONDO:0011830 Abnormal corpus callosum morphology;HP:0001273 11754098;18285425 False 3 100;0;0 0.540 True ENSG00000007168 ENSG00000007168 HGNC:8574 PAK1 gene PAK1 Expert Review Green;Literature Callosome Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with macrocephaly, seizures, and speech delay (MIM 618158) Abnormal corpus callosum morphology;HP:0001273 37820543 False 3 100;0;0 0.540 True ENSG00000149269 ENSG00000149269 HGNC:8590 PAX6 gene PAX6 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000007372 ENSG00000007372 HGNC:8620 PC gene PC Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000173599 ENSG00000173599 HGNC:8636 PCCA gene PCCA Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000175198 ENSG00000175198 HGNC:8653 PCCB gene PCCB Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000114054 ENSG00000114054 HGNC:8654 PCYT2 gene PCYT2 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000185813 ENSG00000185813 HGNC:8756 PDHA1 gene PDHA1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000131828 ENSG00000131828 HGNC:8806 PDHB gene PDHB Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000168291 ENSG00000168291 HGNC:8808 PDHX gene PDHX Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000110435 ENSG00000110435 HGNC:21350 PDP1 gene PDP1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000164951 ENSG00000164951 HGNC:9279 PDYN gene PDYN Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000101327 ENSG00000101327 HGNC:8820 PEX1 gene PEX1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000127980 ENSG00000127980 HGNC:8850 PEX10 gene PEX10 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000157911 ENSG00000157911 HGNC:8851 PEX12 gene PEX12 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000108733 ENSG00000108733 HGNC:8854 PEX13 gene PEX13 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000162928 ENSG00000162928 HGNC:8855 PEX14 gene PEX14 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000142655 ENSG00000142655 HGNC:8856 PEX16 gene PEX16 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000121680 ENSG00000121680 HGNC:8857 PEX19 gene PEX19 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000162735 ENSG00000162735 HGNC:9713 PEX2 gene PEX2 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000164751 ENSG00000164751 HGNC:9717 PEX26 gene PEX26 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000215193 ENSG00000215193 HGNC:22965 PEX3 gene PEX3 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000034693 ENSG00000034693 HGNC:8858 PEX5 gene PEX5 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000139197 ENSG00000139197 HGNC:9719 PEX6 gene PEX6 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000124587 ENSG00000124587 HGNC:8859 PIEZO2 gene PIEZO2 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000154864 ENSG00000154864 HGNC:26270 PIK3CA gene PIK3CA Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000121879 ENSG00000121879 HGNC:8975 PIK3R2 gene PIK3R2 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000105647 ENSG00000105647 HGNC:8980 PITX1 gene PITX1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000069011 ENSG00000069011 HGNC:9004 PITX2 gene PITX2 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000164093 ENSG00000164093 HGNC:9005 PNKP gene PNKP Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000039650 ENSG00000039650 HGNC:9154 PNPT1 gene PNPT1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 13 (MIM#614932) Abnormal corpus callosum morphology;HP:0001273 31752325 False 3 100;0;0 0.540 True ENSG00000138035 ENSG00000138035 HGNC:23166 POLR3A gene POLR3A Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000148606 ENSG00000148606 HGNC:30074 POLR3B gene POLR3B Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000013503 ENSG00000013503 HGNC:30348 POMGNT1 gene POMGNT1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000085998 ENSG00000085998 HGNC:19139 POMGNT2 gene POMGNT2 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000144647 ENSG00000144647 HGNC:25902 POMK gene POMK Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000185900 ENSG00000185900 HGNC:26267 POMT1 gene POMT1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000130714 ENSG00000130714 HGNC:9202 POMT2 gene POMT2 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000009830 ENSG00000009830 HGNC:19743 PORCN gene PORCN Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000102312 ENSG00000102312 HGNC:17652 POU1F1 gene POU1F1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000064835 ENSG00000064835 HGNC:9210 PPP2R1A gene PPP2R1A Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 36, MIM#616362;Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605 Abnormal corpus callosum morphology;HP:0001273 26168268;33106617 False 3 100;0;0 0.540 True ENSG00000105568 ENSG00000105568 HGNC:9302 PPP2R5D gene PPP2R5D Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000112640 ENSG00000112640 HGNC:9312 PROP1 gene PROP1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000175325 ENSG00000175325 HGNC:9455 PRRX1 gene PRRX1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000116132 ENSG00000116132 HGNC:9142 PSAP gene PSAP Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000197746 ENSG00000197746 HGNC:9498 PSMF1 gene PSMF1 Expert Review Green;Literature Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related Abnormal corpus callosum morphology;HP:0001273 doi: 10.1101/2024.06.19.24308302 False 3 100;0;0 0.540 True ENSG00000125818 ENSG00000125818 HGNC:9571 PTCH1 gene PTCH1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000185920 ENSG00000185920 HGNC:9585 PTEN gene PTEN Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000171862 ENSG00000171862 HGNC:9588 PTPN11 gene PTPN11 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000179295 ENSG00000179295 HGNC:9644 PYCR1 gene PYCR1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000183010 ENSG00000183010 HGNC:9721 RAB18 gene RAB18 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 3, MIM# 614222 Abnormal corpus callosum morphology;HP:0001273 11237903;23420520 False 3 100;0;0 0.540 True ENSG00000099246 ENSG00000099246 HGNC:14244 RAB34 gene RAB34 Expert Review Green;Literature Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome 20, MIM#620718 Abnormal corpus callosum morphology;HP:0001273 PMID: 37384395 False 3 100;0;0 0.540 True ENSG00000109113 ENSG00000109113 HGNC:16519 RAB3GAP1 gene RAB3GAP1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000115839 ENSG00000115839 HGNC:17063 RAB3GAP2 gene RAB3GAP2 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000118873 ENSG00000118873 HGNC:17168 RAC1 gene RAC1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000136238 ENSG00000136238 HGNC:9801 RAC3 gene RAC3 Expert Review Green;Literature Callosome Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, MIM#618577 Abnormal corpus callosum morphology;HP:0001273 35851598 False 3 100;0;0 0.540 True ENSG00000169750 ENSG00000169750 HGNC:9803 RAD51 gene RAD51 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000051180 ENSG00000051180 HGNC:9817 RAF1 gene RAF1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000132155 ENSG00000132155 HGNC:9829 RARS2 gene RARS2 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000146282 ENSG00000146282 HGNC:21406 RBM10 gene RBM10 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000182872 ENSG00000182872 HGNC:9896 RBPJ gene RBPJ Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000168214 ENSG00000168214 HGNC:5724 RELN gene RELN Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000189056 ENSG00000189056 HGNC:9957 RIT1 gene RIT1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000143622 ENSG00000143622 HGNC:10023 RMND1 gene RMND1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 11 MIM#614922 Abnormal corpus callosum morphology;HP:0001273 23022098 False 3 100;0;0 0.540 True ENSG00000155906 ENSG00000155906 HGNC:21176 RNASEH2A gene RNASEH2A Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000104889 ENSG00000104889 HGNC:18518 RNASEH2B gene RNASEH2B Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000136104 ENSG00000136104 HGNC:25671 RNASEH2C gene RNASEH2C Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000172922 ENSG00000172922 HGNC:24116 RNU4ATAC gene RNU4ATAC Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000264229 ENSG00000264229 HGNC:34016 ROBO2 gene ROBO2 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000185008 ENSG00000185008 HGNC:10250 ROBO3 gene ROBO3 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000154134 ENSG00000154134 HGNC:13433 RPS6KA3 gene RPS6KA3 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000177189 ENSG00000177189 HGNC:10432 RTTN gene RTTN Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000176225 ENSG00000176225 HGNC:18654 SAMHD1 gene SAMHD1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000101347 ENSG00000101347 HGNC:15925 SATB2 gene SATB2 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000119042 ENSG00000119042 HGNC:21637 SCLT1 gene SCLT1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000151466 ENSG00000151466 HGNC:26406 SCO2 gene SCO2 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000130489 ENSG00000130489 HGNC:10604 SDHA gene SDHA Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000073578 ENSG00000073578 HGNC:10680 SEMA3A gene SEMA3A Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000075213 ENSG00000075213 HGNC:10723 SEPSECS gene SEPSECS Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000109618 ENSG00000109618 HGNC:30605 SETBP1 gene SETBP1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000152217 ENSG00000152217 HGNC:15573 SF3B4 gene SF3B4 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000143368 ENSG00000143368 HGNC:10771 SHH gene SHH Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000164690 ENSG00000164690 HGNC:10848 SHMT2 gene SHMT2 Expert Review Green;Literature Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121;Congenital microcephaly;Infantile axial hypotonia;Spastic paraparesis;Global developmental delay;Intellectual disability;Abnormality of the corpus callosum;Abnormal cortical gyration;Hypertrophic cardiomyopathy;Abnormality of the face;Proximal placement of thumb;2-3 toe syndactyly Abnormal corpus callosum morphology;HP:0001273 33015733 False 3 100;0;0 0.540 True ENSG00000182199 ENSG00000182199 HGNC:10852 SIX3 gene SIX3 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000138083 ENSG00000138083 HGNC:10889 SKI gene SKI Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000157933 ENSG00000157933 HGNC:10896 SLC12A6 gene SLC12A6 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Agenesis of the corpus callosum with peripheral neuropathy, MIM# 218000 Abnormal corpus callosum morphology;HP:0001273 31439721;27485015;16606917;21628467;12368912;17893295 False 3 100;0;0 0.540 True ENSG00000140199 ENSG00000140199 HGNC:10914 SLC1A4 gene SLC1A4 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000115902 ENSG00000115902 HGNC:10942 SLC25A1 gene SLC25A1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000100075 ENSG00000100075 HGNC:10979 SLC25A19 gene SLC25A19 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000125454 ENSG00000125454 HGNC:14409 SLC25A22 gene SLC25A22 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000177542 ENSG00000177542 HGNC:19954 SLC4A10 gene SLC4A10 Expert Review Green;Literature Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, MIM# 620746 Abnormal corpus callosum morphology;HP:0001273 PMID: 37459438 False 3 100;0;0 0.540 True ENSG00000144290 ENSG00000144290 HGNC:13811 SMARCA4 gene SMARCA4 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000127616 ENSG00000127616 HGNC:11100 SMARCB1 gene SMARCB1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000099956 ENSG00000099956 HGNC:11103 SMG9 gene SMG9 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000105771 ENSG00000105771 HGNC:25763 SMO gene SMO Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Other Curry-Jones syndrome, somatic mosaic 601707 Abnormal corpus callosum morphology;HP:0001273 27236920 False 3 100;0;0 0.540 True ENSG00000128602 ENSG00000128602 HGNC:11119 SNAP29 gene SNAP29 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000099940 ENSG00000099940 HGNC:11133 SNF8 gene SNF8 Expert Review Green;Literature Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 115, MIM#620783 Abnormal corpus callosum morphology;HP:0001273 38423010 False 3 100;0;0 0.540 True ENSG00000159210 ENSG00000159210 HGNC:17028 SNX10 gene SNX10 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000086300 ENSG00000086300 HGNC:14974 SOS1 gene SOS1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000115904 ENSG00000115904 HGNC:11187 SOS2 gene SOS2 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000100485 ENSG00000100485 HGNC:11188 SOX2 gene SOX2 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000181449 ENSG00000181449 HGNC:11195 SPECC1L gene SPECC1L Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000100014 ENSG00000100014 HGNC:29022 SPG11 gene SPG11 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000104133 ENSG00000104133 HGNC:11226 SRPK3 gene SRPK3 Expert Review Green;Literature Callosome Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked, 114, MIM#301134 Abnormal corpus callosum morphology;HP:0001273 39073169 False 3 100;0;0 0.540 True ENSG00000184343 ENSG00000184343 HGNC:11402 STIL gene STIL Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000123473 ENSG00000123473 HGNC:10879 STRA6 gene STRA6 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000137868 ENSG00000137868 HGNC:30650 STXBP1 gene STXBP1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000136854 ENSG00000136854 HGNC:11444 SUOX gene SUOX Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000139531 ENSG00000139531 HGNC:11460 SUPT16H gene SUPT16H Expert Review Green;Literature Callosome Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum, MIM# 619480;Intellectual disability;Abnormality of the corpus callosum Abnormal corpus callosum morphology;HP:0001273 31924697 False 3 100;0;0 0.540 True ENSG00000092201 ENSG00000092201 HGNC:11465 SURF1 gene SURF1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000148290 ENSG00000148290 HGNC:11474 SZT2 gene SZT2 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 18, OMIM #615476 Abnormal corpus callosum morphology;HP:0001273 23932106;30560016;30359774;28556953;32402703 False 3 100;0;0 0.540 True ENSG00000198198 ENSG00000198198 HGNC:29040 TAC3 gene TAC3 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000166863 ENSG00000166863 HGNC:11521 TACR3 gene TACR3 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000169836 ENSG00000169836 HGNC:11528 TBC1D20 gene TBC1D20 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000125875 ENSG00000125875 HGNC:16133 TBX22 gene TBX22 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000122145 ENSG00000122145 HGNC:11600 TCF4 gene TCF4 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000196628 ENSG00000196628 HGNC:11634 TGIF1 gene TGIF1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly 4, MIM# 142946;MONDO:0007734 Abnormal corpus callosum morphology;HP:0001273 10835638;16323008 False 3 100;0;0 0.540 True ENSG00000177426 ENSG00000177426 HGNC:11776 THOC6 gene THOC6 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000131652 ENSG00000131652 HGNC:28369 TMEM5 gene TMEM5 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000118600 ENSG00000118600 HGNC:13530 TRAPPC6B gene TRAPPC6B Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000182400 ENSG00000182400 HGNC:23066 TRAPPC9 gene TRAPPC9 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000167632 ENSG00000167632 HGNC:30832 TREX1 gene TREX1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000213689 ENSG00000213689 HGNC:12269 TSEN2 gene TSEN2 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000154743 ENSG00000154743 HGNC:28422 TSEN54 gene TSEN54 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000182173 ENSG00000182173 HGNC:27561 TSFM gene TSFM Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000123297 ENSG00000123297 HGNC:12367 TTC19 gene TTC19 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000011295 ENSG00000011295 HGNC:26006 TUBA1A gene TUBA1A Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000167552 ENSG00000167552 HGNC:20766 TUBB gene TUBB Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000196230 ENSG00000196230 HGNC:20778 TUBB2A gene TUBB2A Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000137267 ENSG00000137267 HGNC:12412 TUBB2B gene TUBB2B Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000137285 ENSG00000137285 HGNC:30829 TUBB3 gene TUBB3 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000258947 ENSG00000258947 HGNC:20772 TUBB4A gene TUBB4A Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000104833 ENSG00000104833 HGNC:20774 TUBG1 gene TUBG1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000131462 ENSG00000131462 HGNC:12417 TUBGCP4 gene TUBGCP4 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000137822 ENSG00000137822 HGNC:16691 TUBGCP6 gene TUBGCP6 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000128159 ENSG00000128159 HGNC:18127 TUFM gene TUFM Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000178952 ENSG00000178952 HGNC:12420 TWIST1 gene TWIST1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000122691 ENSG00000122691 HGNC:12428 UBE3B gene UBE3B Expert Review Green;Literature Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Kaufman oculocerebrofacial syndrome, MIM# 244450;Blepharophimosis;intellectual disability Abnormal corpus callosum morphology;HP:0001273 32949109 False 3 100;0;0 0.540 True ENSG00000151148 ENSG00000151148 HGNC:13478 UPF3B gene UPF3B Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000125351 ENSG00000125351 HGNC:20439 UQCRB gene UQCRB Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000156467 ENSG00000156467 HGNC:12582 USP14 gene USP14 Expert Review Green;Literature Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Syndromic disease MONDO:0002254, USP14-related;Distal arthrogryposis, corpus callosum anomalies, and dysmorphic features;no OMIM # Abnormal corpus callosum morphology;HP:0001273 PMID: 35066879;38469793 False 3 50;0;50 0.540 True ENSG00000101557 ENSG00000101557 HGNC:12612 VLDLR gene VLDLR Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000147852 ENSG00000147852 HGNC:12698 VRK1 gene VRK1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000100749 ENSG00000100749 HGNC:12718 WASHC5 gene WASHC5 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000164961 ENSG00000164961 HGNC:28984 WBP4 gene WBP4 Expert Review Green;Literature Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, WBP4-related Abnormal corpus callosum morphology;HP:0001273 PMID: 37425688 False 3 0;0;0 0.540 True ENSG00000120688 ENSG00000120688 HGNC:12739 WDR11 gene WDR11 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000120008 ENSG00000120008 HGNC:13831 WDR4 gene WDR4 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000160193 ENSG00000160193 HGNC:12756 WDR47 gene WDR47 Expert Review Green;Literature Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Complex neurodevelopmental disorder MONDO:0100038, WDR47-related Abnormal corpus callosum morphology;HP:0001273 39609633 False 3 100;0;0 0.540 True ENSG00000085433 ENSG00000085433 HGNC:29141 WDR62 gene WDR62 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM# 604317;MONDO:0011435 Abnormal corpus callosum morphology;HP:0001273 20890279;20729831;20890278;21496009;21834044;22775483;32677750;31788460 False 3 100;0;0 0.540 True ENSG00000075702 ENSG00000075702 HGNC:24502 YWHAE gene YWHAE Expert Review Green;Literature Callosome Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092 Abnormal corpus callosum morphology;HP:0001273 36999555;20452996;19584063;20599530 False 3 100;0;0 0.540 True ENSG00000108953 ENSG00000108953 HGNC:12851 ZBTB18 gene ZBTB18 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 22, MIM# 612337 Abnormal corpus callosum morphology;HP:0001273 29573576 False 3 100;0;0 0.540 True ENSG00000179456 ENSG00000179456 HGNC:13030 ZBTB20 gene ZBTB20 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000181722 ENSG00000181722 HGNC:13503 ZDHHC9 gene ZDHHC9 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000188706 ENSG00000188706 HGNC:18475 ZEB2 gene ZEB2 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mowat-Wilson syndrome, MIM# 235730;MONDO:0009341 Abnormal corpus callosum morphology;HP:0001273 27831545;24715670;19215041;17958891 False 3 100;0;0 0.540 True ENSG00000169554 ENSG00000169554 HGNC:14881 ZFYVE26 gene ZFYVE26 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000072121 ENSG00000072121 HGNC:20761 ZIC1 gene ZIC1 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000152977 ENSG00000152977 HGNC:12872 ZIC2 gene ZIC2 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000043355 ENSG00000043355 HGNC:12873 ZIC3 gene ZIC3 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 3 0;0;0 0.540 False ENSG00000156925 ENSG00000156925 HGNC:12874 ZNF148 gene ZNF148 Expert Review Green;Literature Callosome Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies;MIM#617260 Abnormal corpus callosum morphology;HP:0001273 27964749 False 3 100;0;0 0.540 True ENSG00000163848 ENSG00000163848 HGNC:12933 ZNF462 gene ZNF462 Expert Review Green;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Weiss-Kruszka syndrome, MIM#618619 Abnormal corpus callosum morphology;HP:0001273 28513610;31361404 False 3 100;0;0 0.540 True ENSG00000148143 ENSG00000148143 HGNC:21684 CD96 gene CD96 Expert Review Amber;Genetic Health Queensland;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted C syndrome, MIM#211750 Abnormal corpus callosum morphology;HP:0001273 17847009 False 2 0;100;0 0.540 True ENSG00000153283 ENSG00000153283 HGNC:16892 CEP63 gene CEP63 Expert Review Amber;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 6, MIM#614728 Abnormal corpus callosum morphology;HP:0001273 21983783;26158450 False 2 0;100;0 0.540 True ENSG00000182923 ENSG00000182923 HGNC:25815 GCSH gene GCSH Expert Review Amber;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Multiple mitochondrial dysfunctions syndrome 7, MIM# 620423" Abnormal corpus callosum morphology;HP:0001273 1671321;36190515 False 2 0;50;50 0.540 True ENSG00000140905 ENSG00000140905 HGNC:4208 HYLS1 gene HYLS1 Expert Review Amber;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hydrolethalus syndrome (MIM#236680) Abnormal corpus callosum morphology;HP:0001273 15843405;18648327;19400947;19656802;32509774;26830932 False 2 0;100;0 0.540 True ENSG00000198331 ENSG00000198331 HGNC:26558 MRPS16 gene MRPS16 Australian Genomcis Health Alliance Leukodystrophy Flagship;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Amber;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 2;OMIM #610498 Abnormal corpus callosum morphology;HP:0001273 28749478;15505824 False 2 0;0;100 0.540 True ENSG00000182180 ENSG00000182180 HGNC:14048 NDUFAF3 gene NDUFAF3 Expert Review Amber;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 18 - MIM#618240 Abnormal corpus callosum morphology;HP:0001273 27986404;29344937;19463981 False 2 0;100;0 0.540 True ENSG00000178057 ENSG00000178057 HGNC:29918 NDUFV2 gene NDUFV2 Expert Review Amber;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 7 - MIM#618229 Abnormal corpus callosum morphology;HP:0001273 33811136;34405929;12754703;26008862;30770271;19167255 False 2 0;100;0 0.540 True ENSG00000178127 ENSG00000178127 HGNC:7717 PMS2 gene PMS2 Expert Review Amber;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mismatch repair cancer syndrome, MIM# 276300 Abnormal corpus callosum morphology;HP:0001273 22692065 False 2 0;100;0 0.540 True ENSG00000122512 ENSG00000122512 HGNC:9122 PROKR2 gene PROKR2 Expert Review Amber;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 3 with or without anosmia, MIM# 244200 Abnormal corpus callosum morphology;HP:0001273 False 2 0;100;0 0.540 True ENSG00000101292 ENSG00000101292 HGNC:15836 SPTAN1 gene SPTAN1 Expert Review Amber;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 5, MIM# 613477 Abnormal corpus callosum morphology;HP:0001273 20493457;22258530;32811770 False 2 0;100;0 0.540 True ENSG00000197694 ENSG00000197694 HGNC:11273 U2AF2 gene U2AF2 Expert Review Amber;Literature Callosome Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental delay, dysmorphic facies, and brain anomalies, MIM# 620535 Abnormal corpus callosum morphology;HP:0001273 34112922;37092751;36747105;37134193 False 2 0;100;0 0.540 True ENSG00000063244 ENSG00000063244 HGNC:23156 ZEB1 gene ZEB1 Expert Review Amber;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Corpus callosum abnormalities MONDO:0009022 Abnormal corpus callosum morphology;HP:0001273 24780443;28284480;28742278;37857482 False 2 0;100;0 0.540 True ENSG00000148516 ENSG00000148516 HGNC:11642 AARS2 gene AARS2 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 8 MIM#614096;Leukoencephalopathy, progressive, with ovarian failure MIM#615889;MONDO:0013570 Abnormal corpus callosum morphology;HP:0001273 30706699;27839525;21549344;25058219;24808023 False 1 0;0;100 0.540 True ENSG00000124608 ENSG00000124608 HGNC:21022 ABAT gene ABAT Expert Review Red;Genetic Health Queensland;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal GABA-transaminase deficiency, MIM#613163 Abnormal corpus callosum morphology;HP:0001273 10407778;20052547;27596361;28411234 False 1 0;0;100 0.540 True ENSG00000183044 ENSG00000183044 HGNC:23 ACADS gene ACADS Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470;MONDO:0008722 Abnormal corpus callosum morphology;HP:0001273 False 1 0;0;100 0.540 True ENSG00000122971 ENSG00000122971 HGNC:90 ALG6 gene ALG6 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ic (MIM#603147) Abnormal corpus callosum morphology;HP:0001273 10914684;27498540 False 1 0;0;100 0.540 True ENSG00000088035 ENSG00000088035 HGNC:23157 AP4B1 gene AP4B1 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 47, autosomal recessive, MIM# 614066 Abnormal corpus callosum morphology;HP:0001273 21620353;22290197;24700674;24781758;32979048;32171285;32166732;31525725;31525725 False 1 0;0;100 0.540 True ENSG00000134262 ENSG00000134262 HGNC:572 AP4M1 gene AP4M1 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 50, autosomal recessive, MIM# 612936 Abnormal corpus callosum morphology;HP:0001273 19559397;21937992;21937992;32979048;31915823;29096665;28464862;25496299 False 1 0;0;100 0.540 True ENSG00000221838 ENSG00000221838 HGNC:574 ARMC1 gene ARMC1 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 1 0;0;100 0.540 True ENSG00000104442 ENSG00000104442 HGNC:17684 ATPAF2 gene ATPAF2 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 1 0;0;100 0.540 False ENSG00000171953 ENSG00000171953 HGNC:18802 B3GNT2 gene B3GNT2 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy Abnormal corpus callosum morphology;HP:0001273 23359570;23877401 False 1 0;0;100 0.540 True ENSG00000170340 ENSG00000170340 HGNC:15629 BCOR gene BCOR Expert Review Red;Victorian Clinical Genetics Services Callosome 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) Microphthalmia, syndromic 2, MIM# 300166;Oculofaciocardiodental syndrome;Lenz microphthalmia Abnormal corpus callosum morphology;HP:0001273 29974297 False 1 0;0;100 0.540 True ENSG00000183337 ENSG00000183337 HGNC:20893 CDK5 gene CDK5 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lissencephaly 7 with cerebellar hypoplasia, MIM# 616342 Abnormal corpus callosum morphology;HP:0001273 25560765 False 1 0;0;100 0.540 True ENSG00000164885 ENSG00000164885 HGNC:1774 CDK5RAP2 gene CDK5RAP2 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly 3, primary, autosomal recessive, MIM# 604804;MONDO:0011488 Abnormal corpus callosum morphology;HP:0001273 15793586;22887808;23995685;23726037;27761245;20460369;32677750;32015000 False 1 0;0;100 0.540 True ENSG00000136861 ENSG00000136861 HGNC:18672 CENPJ gene CENPJ Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly 6, primary, autosomal recessive, MIM# 608393, MONDO:0012029;Seckel syndrome 4, MIM# 613676, MONDO:0013358 Abnormal corpus callosum morphology;HP:0001273 20522431;23166506;15793586;20978018;22775483;32677750;32549991 False 1 0;0;100 0.540 True ENSG00000151849 ENSG00000151849 HGNC:17272 CEP135 gene CEP135 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephalic primordial dwarfism;Microcephaly 8, primary, autosomal recessive, 614673 Abnormal corpus callosum morphology;HP:0001273 30214071;22521416;26657937 False 1 0;0;100 0.540 True ENSG00000174799 ENSG00000174799 HGNC:29086 CEP152 gene CEP152 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly 9, primary, autosomal recessive, MIM# 614852;MONDO:0013923;Seckel syndrome 5, MIM# 613823;MONDO:0013443 Abnormal corpus callosum morphology;HP:0001273 20598275;22775483;21131973;23199753 False 1 0;0;100 0.540 True ENSG00000103995 ENSG00000103995 HGNC:29298 CHSY1 gene CHSY1 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Temtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533;CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Abnormal corpus callosum morphology;HP:0001273 21129728;21129727;24269551 False 1 0;0;100 0.540 True ENSG00000131873 ENSG00000131873 HGNC:17198 COX15 gene COX15 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119 Abnormal corpus callosum morphology;HP:0001273 33746038;32232962;26959537;21412973;12474143;15235026 False 1 0;0;100 0.540 True ENSG00000014919 ENSG00000014919 HGNC:2263 CREB1 gene CREB1 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Agenesis of corpus callosum, MONDO:0009022 Abnormal corpus callosum morphology;HP:0001273 22267179 False 1 0;0;100 0.540 True ENSG00000118260 ENSG00000118260 HGNC:2345 CYP11A1 gene CYP11A1 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM# 613743 Abnormal corpus callosum morphology;HP:0001273 12161514;16705068;18182448;28425981 False 1 0;0;100 0.540 True ENSG00000140459 ENSG00000140459 HGNC:2590 DUSP6 gene DUSP6 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism 19 with or without anosmia - MIM#615269 Abnormal corpus callosum morphology;HP:0001273 32389901;23643382 False 1 0;0;100 0.540 True ENSG00000139318 ENSG00000139318 HGNC:3072 EMX2 gene EMX2 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Schizencephaly, MIM# 269160 Abnormal corpus callosum morphology;HP:0001273 8528262;9359037;9153481;9153481;18409201 False 1 0;0;100 0.540 True ENSG00000170370 ENSG00000170370 HGNC:3341 EOMES gene EOMES Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly Abnormal corpus callosum morphology;HP:0001273 17353897 False 1 0;0;100 0.540 True ENSG00000163508 ENSG00000163508 HGNC:3372 EPHB2 gene EPHB2 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 26148571 False 1 0;0;100 0.540 True ENSG00000133216 ENSG00000133216 HGNC:3393 ERBB2 gene ERBB2 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 1 0;0;100 0.540 True ENSG00000141736 ENSG00000141736 HGNC:3430 ERMARD gene ERMARD Australian Genomics Health Alliance Brain Malformation Flagship;Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Periventricular nodular heterotopia 6, MIM#615544 Abnormal corpus callosum morphology;HP:0001273 24056535;27087860 False 1 0;0;100 0.540 True ENSG00000130023 ENSG00000130023 HGNC:21056 ETFA gene ETFA Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIA, MIM# 231680 Abnormal corpus callosum morphology;HP:0001273 False 1 0;0;100 0.540 True ENSG00000140374 ENSG00000140374 HGNC:3481 ETFB gene ETFB Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Glutaric acidemia IIB, MIM# 231680 Abnormal corpus callosum morphology;HP:0001273 False 1 0;0;100 0.540 True ENSG00000105379 ENSG00000105379 HGNC:3482 ETFDH gene ETFDH Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIC, MIM#231680 Abnormal corpus callosum morphology;HP:0001273 False 1 0;0;100 0.540 True ENSG00000171503 ENSG00000171503 HGNC:3483 ETHE1 gene ETHE1 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ethylmalonic encephalopathy , MIM#602473 Abnormal corpus callosum morphology;HP:0001273 14732903;28933811 False 1 0;0;100 0.540 True ENSG00000105755 ENSG00000105755 HGNC:23287 EXOSC5 gene EXOSC5 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, MIM# 619576;Short stature;Motor developmental delays;Cerebellar hypoplasia;Ataxia Abnormal corpus callosum morphology;HP:0001273 32504085;29302074 False 1 0;0;100 0.540 True ENSG00000077348 ENSG00000077348 HGNC:24662 FLRT3 gene FLRT3 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism 21 with anosmia (MIM# 615271) Abnormal corpus callosum morphology;HP:0001273 23643382;31200363 False 1 0;0;100 0.540 True ENSG00000125848 ENSG00000125848 HGNC:3762 GAS1 gene GAS1 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly Abnormal corpus callosum morphology;HP:0001273 21842183;20583177 False 1 0;0;100 0.540 True ENSG00000180447 ENSG00000180447 HGNC:4165 GCDH gene GCDH Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glutaric aciduria, type I MIM#231670 Abnormal corpus callosum morphology;HP:0001273 False 1 0;0;100 0.540 True ENSG00000105607 ENSG00000105607 HGNC:4189 GNRH1 gene GNRH1 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 12 with or without anosmia, MIM# 614841 Abnormal corpus callosum morphology;HP:0001273 False 1 0;0;100 0.540 True ENSG00000147437 ENSG00000147437 HGNC:4419 HCFC1 gene HCFC1 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked 3 (methylmalonic acidaemia and homocysteinaemia, cblX type) MIM# 309541 Abnormal corpus callosum morphology;HP:0001273 34164576;24011988;31207118 False 1 0;0;100 0.540 True ENSG00000172534 ENSG00000172534 HGNC:4839 HS6ST1 gene HS6ST1 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Other {Hypogonadotropic hypogonadism 15 with or without anosmia} 614880 Abnormal corpus callosum morphology;HP:0001273 21700882 False 1 0;0;100 0.540 True ENSG00000136720 ENSG00000136720 HGNC:5201 IGBP1 gene IGBP1 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, MIM# 300472 Abnormal corpus callosum morphology;HP:0001273 14556245 False 1 0;0;100 0.540 True ENSG00000089289 ENSG00000089289 HGNC:5461 IL17RD gene IL17RD Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Hypogonadotropic hypogonadism 18 with or without anosmia, MIM# 615267 Abnormal corpus callosum morphology;HP:0001273 False 1 0;0;100 0.540 True ENSG00000144730 ENSG00000144730 HGNC:17616 KIF11 gene KIF11 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950;MONDO:0007918 Abnormal corpus callosum morphology;HP:0001273 False 1 0;0;100 0.540 True ENSG00000138160 ENSG00000138160 HGNC:6388 KIF27 gene KIF27 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 1 0;0;100 0.540 True ENSG00000165115 ENSG00000165115 HGNC:18632 KIF2A gene KIF2A Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical dysplasia, complex, with other brain malformations 3, MIM# 615411 Abnormal corpus callosum morphology;HP:0001273 23603762;27896282;27747449;29077851;31919497 False 1 0;0;100 0.540 True ENSG00000068796 ENSG00000068796 HGNC:6318 KISS1 gene KISS1 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 13 with or without anosmia, MIM# 614842 Abnormal corpus callosum morphology;HP:0001273 22335740;25783047;22766261;17563351 False 1 0;0;100 0.540 True ENSG00000170498 ENSG00000170498 HGNC:6341 LAMC1 gene LAMC1 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 1 0;0;100 0.540 True ENSG00000135862 ENSG00000135862 HGNC:6492 LHX3 gene LHX3 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pituitary hormone deficiency, combined, 3, MIM# 221750 Abnormal corpus callosum morphology;HP:0001273 False 1 0;0;100 0.540 True ENSG00000107187 ENSG00000107187 HGNC:6595 LHX4 gene LHX4 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pituitary hormone deficiency, combined, 4, MIM# 262700 Abnormal corpus callosum morphology;HP:0001273 False 1 0;0;100 0.540 True ENSG00000121454 ENSG00000121454 HGNC:21734 MCPH1 gene MCPH1 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly 1, primary, autosomal recessive, MIM# 251200;MONDO:0009617 Abnormal corpus callosum morphology;HP:0001273 False 1 0;0;100 0.540 True ENSG00000147316 ENSG00000147316 HGNC:6954 MLH1 gene MLH1 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 1 0;0;0 0.540 True ENSG00000076242 ENSG00000076242 HGNC:7127 MMACHC gene MMACHC Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400 Abnormal corpus callosum morphology;HP:0001273 False 1 0;0;100 0.540 True ENSG00000132763 ENSG00000132763 HGNC:24525 MSH2 gene MSH2 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 1 0;0;0 0.540 True ENSG00000095002 ENSG00000095002 HGNC:7325 MSH6 gene MSH6 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 1 0;0;0 0.540 True ENSG00000116062 ENSG00000116062 HGNC:7329 NDUFA10 gene NDUFA10 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 22 - MIM#618243 Abnormal corpus callosum morphology;HP:0001273 21150889;26741492;28247337 False 1 0;0;100 0.540 True ENSG00000130414 ENSG00000130414 HGNC:7684 NDUFA11 gene NDUFA11 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 14, MIM#618236 Abnormal corpus callosum morphology;HP:0001273 18306244;31074871 False 1 0;0;100 0.540 True ENSG00000174886 ENSG00000174886 HGNC:20371 NDUFA12 gene NDUFA12 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 23 618244 Abnormal corpus callosum morphology;HP:0001273 21617257;33715266 False 1 0;0;100 0.540 True ENSG00000184752 ENSG00000184752 HGNC:23987 NDUFA9 gene NDUFA9 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 26 - MIM#618247 Abnormal corpus callosum morphology;HP:0001273 26425749;28671271;22114105 False 1 50;0;50 0.540 True ENSG00000139180 ENSG00000139180 HGNC:7693 NDUFAF1 gene NDUFAF1 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 11 - MIM#618234 Abnormal corpus callosum morphology;HP:0001273 17557076;21931170;16218961;24963768;34975718 False 1 0;0;100 0.540 True ENSG00000137806 ENSG00000137806 HGNC:18828 NDUFAF2 gene NDUFAF2 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 10 - MIM#618233 Abnormal corpus callosum morphology;HP:0001273 33528536;34364746;16200211;19384974;20571988 False 1 0;0;100 0.540 True ENSG00000164182 ENSG00000164182 HGNC:28086 NDUFAF4 gene NDUFAF4 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 15 - MIM#618237 Abnormal corpus callosum morphology;HP:0001273 32949790;28853723 False 1 0;0;100 0.540 True ENSG00000123545 ENSG00000123545 HGNC:21034 NDUFB3 gene NDUFB3 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 25, MIM# 618246;MONDO:0032629 Abnormal corpus callosum morphology;HP:0001273 22499348;27091925 False 1 0;0;100 0.540 True ENSG00000119013 ENSG00000119013 HGNC:7698 NDUFS2 gene NDUFS2 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228 Abnormal corpus callosum morphology;HP:0001273 28031252;31411514;22036843;20819849;11220739;23266820;31411514 False 1 0;0;100 0.540 True ENSG00000158864 ENSG00000158864 HGNC:7708 NDUFS3 gene NDUFS3 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230 Abnormal corpus callosum morphology;HP:0001273 22499348;30140060;14729820;33097395 False 1 0;0;100 0.540 True ENSG00000213619 ENSG00000213619 HGNC:7710 NDUFS4 gene NDUFS4 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 1 - MIM#252010 Abnormal corpus callosum morphology;HP:0001273 11181577;11165261;16478720;10944442;24295889;22326555;27079373;15975579;19364667;27671926;33093004;29264396;34484776 False 1 0;0;100 0.540 True ENSG00000164258 ENSG00000164258 HGNC:7711 NDUFS6 gene NDUFS6 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 9 - MIM#618232 Abnormal corpus callosum morphology;HP:0001273 15372108;19259137;30948790 False 1 0;0;100 0.540 True ENSG00000145494 ENSG00000145494 HGNC:7713 NEXN gene NEXN Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Lethal fetal cardiomyopathy;Hydrops fetalis;Cardiomyopathy, dilated 1CC - MIM#613122 Abnormal corpus callosum morphology;HP:0001273 33947203;33949776;35166435;32058062 False 1 0;0;100 0.540 True ENSG00000162614 ENSG00000162614 HGNC:29557 NHEJ1 gene NHEJ1 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291;MONDO:0012650 Abnormal corpus callosum morphology;HP:0001273 16439204;16439205 False 1 0;0;100 0.540 True ENSG00000187736 ENSG00000187736 HGNC:25737 NIN gene NIN Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 7, MIM#614851 Abnormal corpus callosum morphology;HP:0001273 22933543 False 1 0;0;100 0.540 True ENSG00000100503 ENSG00000100503 HGNC:14906 NR2E1 gene NR2E1 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 False 1 0;0;100 0.540 True ENSG00000112333 ENSG00000112333 HGNC:7973 NR2F1 gene NR2F1 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722 Abnormal corpus callosum morphology;HP:0001273 32275123 False 1 0;0;100 0.540 True ENSG00000175745 ENSG00000175745 HGNC:7975 NSMF gene NSMF Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism 9 with or without anosmia, MIM# 614838 Abnormal corpus callosum morphology;HP:0001273 False 1 0;0;100 0.540 True ENSG00000165802 ENSG00000165802 HGNC:29843 PCNT gene PCNT Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720;MONDO:0008872 Abnormal corpus callosum morphology;HP:0001273 False 1 0;0;100 0.540 True ENSG00000160299 ENSG00000160299 HGNC:16068 PIGA gene PIGA Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466 Abnormal corpus callosum morphology;HP:0001273 False 1 0;0;100 0.540 True ENSG00000165195 ENSG00000165195 HGNC:8957 PRICKLE1 gene PRICKLE1 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, PRICKLE1-related Abnormal corpus callosum morphology;HP:0001273 26727662 False 1 0;0;100 0.540 True ENSG00000139174 ENSG00000139174 HGNC:17019 PROK2 gene PROK2 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 4 with or without anosmia, MIM# 610628 Abnormal corpus callosum morphology;HP:0001273 18559922;17054399;17959774;18285834 False 1 0;0;100 0.540 True ENSG00000163421 ENSG00000163421 HGNC:18455 RBBP8 gene RBBP8 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Jawad syndrome, MIM#251255;Seckel syndrome 2, MIM#606744 Abnormal corpus callosum morphology;HP:0001273 21998596 False 1 0;0;100 0.540 True ENSG00000101773 ENSG00000101773 HGNC:9891 SLIT2 gene SLIT2 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders Unknown Abnormal corpus callosum morphology;HP:0001273 22349628 False 1 0;0;100 0.540 True ENSG00000145147 ENSG00000145147 HGNC:11086 SNIP1 gene SNIP1 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501 Abnormal corpus callosum morphology;HP:0001273 22279524;34570759 False 1 0;0;100 0.540 True ENSG00000163877 ENSG00000163877 HGNC:30587 SOX3 gene SOX3 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123;Panhypopituitarism, X-linked, MIM#312000 Abnormal corpus callosum morphology;HP:0001273 29175558;30125608;12428212;15800844 False 1 0;0;100 0.540 True ENSG00000134595 ENSG00000134595 HGNC:11199 SPRY4 gene SPRY4 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism 17 with or without anosmia, MIM# 615266 Abnormal corpus callosum morphology;HP:0001273 23643382 False 1 0;0;100 0.540 True ENSG00000187678 ENSG00000187678 HGNC:15533 TBC1D32 gene TBC1D32 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome type IX Abnormal corpus callosum morphology;HP:0001273 24285566 False 1 0;0;100 0.540 True ENSG00000146350 ENSG00000146350 HGNC:21485 TBR1 gene TBR1 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with autism and speech delay, MIM# 606053 Abnormal corpus callosum morphology;HP:0001273 25232744;30250039 False 1 0;0;100 0.540 True ENSG00000136535 ENSG00000136535 HGNC:11590 TRIO gene TRIO Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 44, MIM# 617061 Abnormal corpus callosum morphology;HP:0001273 26721934;32109419 False 1 0;0;100 0.540 True ENSG00000038382 ENSG00000038382 HGNC:12303 TSEN34 gene TSEN34 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2C, MIM# 612390 Abnormal corpus callosum morphology;HP:0001273 18711368 False 1 0;0;100 0.540 True ENSG00000170892 ENSG00000170892 HGNC:15506 TUBA8 gene TUBA8 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180 Abnormal corpus callosum morphology;HP:0001273 19896110;31481326;28388629 False 1 0;0;100 0.540 True ENSG00000183785 ENSG00000183785 HGNC:12410 UQCRQ gene UQCRQ Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 4, MIM# 615159 Abnormal corpus callosum morphology;HP:0001273 18439546 False 1 0;0;100 0.540 True ENSG00000164405 ENSG00000164405 HGNC:29594 VAX1 gene VAX1 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microphthalmia, syndromic 11, MIM# 614402 Abnormal corpus callosum morphology;HP:0001273 22095910 False 1 0;0;100 0.540 True ENSG00000148704 ENSG00000148704 HGNC:12660 WNT3 gene WNT3 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Tetra-amelia syndrome 1, MIM# 273395 Abnormal corpus callosum morphology;HP:0001273 14872406 False 1 0;0;100 0.540 True ENSG00000108379 ENSG00000108379 HGNC:12782 XPNPEP3 gene XPNPEP3 Expert Review Red;Victorian Clinical Genetics Services Callosome Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis-like nephropathy 1, OMIM #613159 Abnormal corpus callosum morphology;HP:0001273 20179356 False 1 0;0;100 0.540 True ENSG00000196236 ENSG00000196236 HGNC:28052 SCA10 str ATXN10 Expert Review Green;Expert list Callosome Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 10 MIM#603516 Abnormal corpus callosum morphology;HP:0001273 20301354;11017075 False 3 100;0;0 0.540 True ENSG00000130638 ENSG00000130638 HGNC:10549 22 46191235 46191304 45795355 45795424 ATTCT 32 800 SCA37 str DAB1 Expert Review Green;Expert list Callosome Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 37 MIM#615945 Abnormal corpus callosum morphology;HP:0001273 28686858;31145571 False 3 100;0;0 0.540 False ENSG00000173406 ENSG00000173406 HGNC:2661 1 57832716 57832797 57367044 57367121 ATTTC 0 31