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 AKT3 gene AKT3 Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MIM#615937) Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 28969385 False 3 100;0;0 0.127 True ENSG00000117020 ENSG00000117020 HGNC:393 AP1S2 gene AP1S2 Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders Unknown Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 0;0;0 0.127 False ENSG00000182287 ENSG00000182287 HGNC:560 ARID1B gene ARID1B Expert Review Green;Literature Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome 1 MONDO:0007617 Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 39680505 False 3 100;0;0 0.127 True ENSG00000049618 ENSG00000049618 HGNC:18040 ARSB gene ARSB Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders Unknown Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 0;0;0 0.127 False ENSG00000113273 ENSG00000113273 HGNC:714 B3GALNT2 gene B3GALNT2 Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181;MONDO:0014071 Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 23453667;33290285;29791932;29273094;28688748;28303321 False 3 100;0;0 0.127 True ENSG00000162885 ENSG00000162885 HGNC:28596 B3GLCT gene B3GLCT Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders Unknown Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 0;0;0 0.127 False ENSG00000187676 ENSG00000187676 HGNC:20207 BUB1B gene BUB1B Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders Unknown Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 0;0;0 0.127 False ENSG00000156970 ENSG00000156970 HGNC:1149 C12orf57 gene C12orf57 Expert Review Green;Literature Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Temtamy syndrome MIM#218340 Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 29383837;31853307 False 3 100;0;0 0.127 True ENSG00000111678 ENSG00000111678 HGNC:29521 CC2D2A gene CC2D2A Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders Unknown Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 0;0;0 0.127 False ENSG00000048342 ENSG00000048342 HGNC:29253 CCDC88C gene CCDC88C Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hydrocephalus, nonsyndromic, autosomal recessive 236600 Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 25062847;30398676 False 3 100;0;0 0.127 True ENSG00000015133 ENSG00000015133 HGNC:19967 CCND2 gene CCND2 Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders Unknown Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 0;0;0 0.127 False ENSG00000118971 ENSG00000118971 HGNC:1583 CENPF gene CENPF Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders Unknown Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 0;0;0 0.127 False ENSG00000117724 ENSG00000117724 HGNC:1857 CEP83 gene CEP83 Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 18, MIM# 615862;MONDO:0014374;Hydrocephalus;ID Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 24882706 False 3 100;0;0 0.127 True ENSG00000173588 ENSG00000173588 HGNC:17966 COL4A1 gene COL4A1 Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders Unknown Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 0;0;0 0.127 False ENSG00000187498 ENSG00000187498 HGNC:2202 CRB2 gene CRB2 Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ventriculomegaly with cystic kidney disease, MIM# 219730 Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 25557780;33687977;32051522;30212996;33575434;31438467;30593785;27004616 False 3 100;0;0 0.127 True ENSG00000148204 ENSG00000148204 HGNC:18688 DAG1 gene DAG1 Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders Unknown Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 0;0;0 0.127 False ENSG00000173402 ENSG00000173402 HGNC:2666 DENND5A gene DENND5A Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 49, MIM# 617281 Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 27431290;27866705;32705489 False 3 100;0;0 0.127 True ENSG00000184014 ENSG00000184014 HGNC:19344 DHCR24 gene DHCR24 Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Desmosterolosis, MIM# 602398 Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 33524375;21671375;12457401;29175559;21559050;29175559 False 3 100;0;0 0.127 True ENSG00000116133 ENSG00000116133 HGNC:2859 DLG5 gene DLG5 Expert Review;Expert Review Green Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Yuksel-Vogel-Bauer syndrome, MIM#620703 Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 32631816 False 3 100;0;0 0.127 True ENSG00000151208 ENSG00000151208 HGNC:2904 DLL1 gene DLL1 Expert list;Expert Review Green Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, MIM# 618709 Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 31353024 False 3 100;0;0 0.127 True ENSG00000198719 ENSG00000198719 HGNC:2908 EEF2 gene EEF2 Expert Review Green;Literature Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder;macrocephaly;hydrocephalus Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 33355653 False 3 100;0;0 0.127 True ENSG00000167658 ENSG00000167658 HGNC:3214 EML1 gene EML1 Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders Unknown Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 0;0;0 0.127 False ENSG00000066629 ENSG00000066629 HGNC:3330 FAM20C gene FAM20C Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders Unknown Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 0;0;0 0.127 False ENSG00000177706 ENSG00000177706 HGNC:22140 FANCB gene FANCB Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Fanconi anemia, complementation group B (MIM#300514) Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 21910217 False 3 100;0;0 0.127 True ENSG00000181544 ENSG00000181544 HGNC:3583 FGFR1 gene FGFR1 Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pfeiffer syndrome, MIM# 101600 Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 100;0;0 0.127 True Other ENSG00000077782 ENSG00000077782 HGNC:3688 FGFR2 gene FGFR2 Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders Unknown Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 0;0;0 0.127 False ENSG00000066468 ENSG00000066468 HGNC:3689 FGFR3 gene FGFR3 Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders Unknown Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 0;0;0 0.127 False ENSG00000068078 ENSG00000068078 HGNC:3690 FKRP gene FKRP Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders Unknown Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 0;0;0 0.127 False ENSG00000181027 ENSG00000181027 HGNC:17997 FKTN gene FKTN Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders Unknown Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 0;0;0 0.127 False ENSG00000106692 ENSG00000106692 HGNC:3622 FLVCR2 gene FLVCR2 Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, MIM# 225790 Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 30712878;20206334;20518025;20690116;25677735 False 3 100;0;0 0.127 True ENSG00000119686 ENSG00000119686 HGNC:20105 FOXJ1 gene FOXJ1 Expert Review Green;Literature Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital hydrocephalus;Ciliary dyskinesia, primary, 43, MIM#618699 Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 33077954 False 3 100;0;0 0.127 True ENSG00000129654 ENSG00000129654 HGNC:3816 GFAP gene GFAP Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders Unknown Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 0;0;0 0.127 False ENSG00000131095 ENSG00000131095 HGNC:4235 GLI3 gene GLI3 Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders Unknown Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 0;0;0 0.127 False ENSG00000106571 ENSG00000106571 HGNC:4319 GPSM2 gene GPSM2 Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Chudley-McCullough syndrome, MIM# 604213 Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 20602914;22578326;28387217;27180139;27064331 False 3 100;0;0 0.127 True ENSG00000121957 ENSG00000121957 HGNC:29501 GUSB gene GUSB Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders Unknown Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 0;0;0 0.127 False ENSG00000169919 ENSG00000169919 HGNC:4696 IDS gene IDS Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders Unknown Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 0;0;0 0.127 False ENSG00000010404 ENSG00000010404 HGNC:5389 ISPD gene ISPD Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643 Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 22522421;23217329 False 3 100;0;0 0.127 True ENSG00000214960 ENSG00000214960 HGNC:37276 KIAA0586 gene KIAA0586 Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders Unknown Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 0;0;0 0.127 False ENSG00000100578 ENSG00000100578 HGNC:19960 KIAA1109 gene KIAA1109 Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders Unknown Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 0;0;0 0.127 False ENSG00000138688 ENSG00000138688 HGNC:26953 KIDINS220 gene KIDINS220 Expert Review Green;Literature Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ventriculomegaly and arthrogryposis, MIM# 619501;cerebral ventriculomegaly;limb contractures Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 33205811;28934391;28934391;32909676 False 3 100;0;0 0.127 True ENSG00000134313 ENSG00000134313 HGNC:29508 KIF26A gene KIF26A Expert Review Green;Literature Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156 Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 36564622 False 3 100;0;0 0.127 True ENSG00000066735 ENSG00000066735 HGNC:20226 KIF4A gene KIF4A Expert Review;Expert Review Green Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 100 MIM#300923 Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 24812067;34346154;30679815 False 3 100;0;0 0.127 True ENSG00000090889 ENSG00000090889 HGNC:13339 L1CAM gene L1CAM Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Hydrocephalus due to aqueductal stenosis, MIM# 307000;MASA syndrome, MIM# 303350;L1 syndrome, MONDO:0017140 Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 11438988;7920660;8401593;19565280 False 3 100;0;0 0.127 True ENSG00000198910 ENSG00000198910 HGNC:6470 LAMB1 gene LAMB1 Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders Unknown Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 0;0;0 0.127 False ENSG00000091136 ENSG00000091136 HGNC:6486 LARGE1 gene LARGE1 Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders Unknown Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 0;0;0 0.127 False ENSG00000133424 ENSG00000133424 HGNC:6511 LDB1 gene LDB1 Expert Review Green;Literature Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital hydrocephalus MONDO:0016349 Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 39680505 False 3 100;0;0 0.127 True ENSG00000198728 ENSG00000198728 HGNC:6532 MAN2B1 gene MAN2B1 Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders Unknown Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 0;0;0 0.127 False ENSG00000104774 ENSG00000104774 HGNC:6826 MCIDAS gene MCIDAS Expert Review Green;Literature Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hydrocephalus;Arachnoid cyst;Choroid plexus hyperplasia;Ciliary dyskinesia, primary, 42 - #618695 Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 32802948;30237576 False 3 100;0;0 0.127 False ENSG00000234602 ENSG00000234602 HGNC:40050 MPDZ gene MPDZ Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hydrocephalus, congenital, 2, with or without brain or eye anomalies, MIM# 615219 Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 28556411;23240096;30518636;29499638 False 3 100;0;0 0.127 True ENSG00000107186 ENSG00000107186 HGNC:7208 NF1 gene NF1 Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders Unknown Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 0;0;0 0.127 False ENSG00000196712 ENSG00000196712 HGNC:7765 NSD1 gene NSD1 Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders Unknown Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 0;0;0 0.127 False ENSG00000165671 ENSG00000165671 HGNC:14234 OSTM1 gene OSTM1 Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders Unknown Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 0;0;0 0.127 False ENSG00000081087 ENSG00000081087 HGNC:21652 P4HB gene P4HB Expert list;Expert Review Green Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cole-Carpenter syndrome 1, MIM#112240 Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 30063094;29263160;25683117;29384951 False 3 100;0;0 0.127 True ENSG00000185624 ENSG00000185624 HGNC:8548 PIK3CA gene PIK3CA Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders Unknown Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 0;0;0 0.127 False ENSG00000121879 ENSG00000121879 HGNC:8975 PIK3R2 gene PIK3R2 Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders Unknown Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 0;0;0 0.127 False ENSG00000105647 ENSG00000105647 HGNC:8980 PLG gene PLG Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Plasminogen deficiency, type I, MIM# 217090 Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 9242524;10233898;21174000;21174000 False 3 100;0;0 0.127 True ENSG00000122194 ENSG00000122194 HGNC:9071 POMGNT1 gene POMGNT1 Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders Unknown Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 0;0;0 0.127 False ENSG00000085998 ENSG00000085998 HGNC:19139 POMGNT2 gene POMGNT2 Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders Unknown Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 0;0;0 0.127 False ENSG00000144647 ENSG00000144647 HGNC:25902 POMK gene POMK Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders Unknown Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 0;0;0 0.127 False ENSG00000185900 ENSG00000185900 HGNC:26267 POMT1 gene POMT1 Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders Unknown Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 0;0;0 0.127 False ENSG00000130714 ENSG00000130714 HGNC:9202 POMT2 gene POMT2 Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders Unknown Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 0;0;0 0.127 False ENSG00000009830 ENSG00000009830 HGNC:19743 PPP2R5D gene PPP2R5D Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders Unknown Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 0;0;0 0.127 False ENSG00000112640 ENSG00000112640 HGNC:9312 PTCH1 gene PTCH1 Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders Unknown Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 0;0;0 0.127 False ENSG00000185920 ENSG00000185920 HGNC:9585 PTEN gene PTEN Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders Unknown Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 0;0;0 0.127 False ENSG00000171862 ENSG00000171862 HGNC:9588 RNF125 gene RNF125 Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders Unknown Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 0;0;0 0.127 False ENSG00000101695 ENSG00000101695 HGNC:21150 RPS6KA3 gene RPS6KA3 Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders Unknown Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 0;0;0 0.127 False ENSG00000177189 ENSG00000177189 HGNC:10432 SEC24D gene SEC24D Expert list;Expert Review Green Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cole-Carpenter syndrome 2, MIM# 616294 Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 30462379;27942778;26467156;25683121 False 3 100;0;0 0.127 True ENSG00000150961 ENSG00000150961 HGNC:10706 SKI gene SKI Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders Unknown Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 0;0;0 0.127 False ENSG00000157933 ENSG00000157933 HGNC:10896 SMARCC1 gene SMARCC1 Expert Review Green;Literature Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital hydrocephalus Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 33077954;24170322 False 3 100;0;0 0.127 True ENSG00000173473 ENSG00000173473 HGNC:11104 SNX10 gene SNX10 Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders Unknown Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 0;0;0 0.127 False ENSG00000086300 ENSG00000086300 HGNC:14974 STRADA gene STRADA Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders Unknown Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 0;0;0 0.127 False ENSG00000266173 ENSG00000266173 HGNC:30172 SUFU gene SUFU Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders Unknown Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 0;0;0 0.127 False ENSG00000107882 ENSG00000107882 HGNC:16466 SUMF1 gene SUMF1 Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders Unknown Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 0;0;0 0.127 False ENSG00000144455 ENSG00000144455 HGNC:20376 TCF12 gene TCF12 Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders Unknown Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 0;0;0 0.127 False ENSG00000140262 ENSG00000140262 HGNC:11623 TCIRG1 gene TCIRG1 Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 1, MIM# 259700 Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 100;0;0 0.127 True ENSG00000110719 ENSG00000110719 HGNC:11647 TMEM5 gene TMEM5 Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders Unknown Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 0;0;0 0.127 False ENSG00000118600 ENSG00000118600 HGNC:13530 TNFRSF11A gene TNFRSF11A Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 7, MIM# 612301 Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 100;0;0 0.127 True ENSG00000141655 ENSG00000141655 HGNC:11908 TRIM71 gene TRIM71 Expert Review Green;Literature Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Hydrocephalus, congenital communicating, 1 618667" Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 PMID: 29983323;32168371;30975633 False 3 100;0;0 0.127 True ENSG00000206557 ENSG00000206557 HGNC:32669 TWIST1 gene TWIST1 Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders Unknown Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 0;0;0 0.127 False ENSG00000122691 ENSG00000122691 HGNC:12428 USP9X gene USP9X Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders Unknown Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 0;0;0 0.127 False ENSG00000124486 ENSG00000124486 HGNC:12632 WASHC5 gene WASHC5 Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders Unknown Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 0;0;0 0.127 False ENSG00000164961 ENSG00000164961 HGNC:28984 ZBTB20 gene ZBTB20 Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders Unknown Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 0;0;0 0.127 False ENSG00000181722 ENSG00000181722 HGNC:13503 ZIC2 gene ZIC2 Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders Unknown Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 0;0;0 0.127 False ENSG00000043355 ENSG00000043355 HGNC:12873 ZIC3 gene ZIC3 Expert Review Green;Victorian Clinical Genetics Services Hydrocephalus_Ventriculomegaly Neurology and neurodevelopmental disorders Unknown Hydrocephalus;HP:0000238; Ventriculomegaly;HP:0002119 False 3 0;0;0 0.127 False ENSG00000156925 ENSG00000156925 HGNC:12874