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 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