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;NHS GMS;Radboud University Medical Center, Nijmegen Hydrocephalus Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937 22729224;23745724;22500628;22729223 False 3 50;50;0 5.12 False ENSG00000117020 ENSG00000117020 HGNC:393 AP1S2 gene AP1S2 Expert Review Green;Literature;NHS GMS Hydrocephalus Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Pettigrew syndrome, OMIM:304340 17186471;17617514;18428203;23756445;30383884;30714330 False 3 50;50;0 5.12 False ENSG00000182287 ENSG00000182287 HGNC:560 ARSB gene ARSB Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type VI (Maroteaux-Lamy), OMIM:253200 11668612;1301949;9514506 False 3 50;50;0 5.12 False ENSG00000113273 ENSG00000113273 HGNC:714 B3GALNT2 gene B3GALNT2 Expert Review Green;NHS GMS;Other Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, OMIM:615181 23453667 False 3 50;50;0 5.12 False ENSG00000162885 ENSG00000162885 HGNC:28596 B3GLCT gene B3GLCT Expert Review Green;Literature;NHS GMS Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal Peters-plus syndrome, OMIM:261540 18798333;16909395 False 3 50;50;0 5.12 False ENSG00000187676 ENSG00000187676 HGNC:20207 B4GAT1 gene B4GAT1 Expert Review Green;Literature Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, OMIM:615287 23359570;23877401;23217742 False 3 50;0;50 5.12 False ENSG00000174684 ENSG00000174684 HGNC:15685 BUB1B gene BUB1B Expert Review Green;Literature;NHS GMS Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal Mosaic variegated aneuploidy syndrome 1, OMIM:257300 15475955 False 3 50;50;0 5.12 False ENSG00000156970 ENSG00000156970 HGNC:1149 CC2D2A gene CC2D2A Expert Review Green;Literature;NHS GMS Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 9, OMIM:612285 22241855 False 3 50;50;0 5.12 True ENSG00000048342 ENSG00000048342 HGNC:29253 CCDC88C gene CCDC88C Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal Hydrocephalus, nonsyndromic, autosomal recessive, OMIM:236600 21031079;23042809 False 3 50;50;0 5.12 False ENSG00000015133 ENSG00000015133 HGNC:19967 CCND2 gene CCND2 Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Hydrocephalus Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, OMIM:615938 24705253 False 3 50;50;0 5.12 False ENSG00000118971 ENSG00000118971 HGNC:1583 CENPF gene CENPF Expert Review Green;Literature;NHS GMS Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal Stromme syndrome, OMIM:243605 26820108; 25564561 False 3 0;100;0 5.12 False ENSG00000117724 ENSG00000117724 HGNC:1857 CEP83 gene CEP83 Expert Review Green;Literature;NHS GMS Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 18, OMIM:615862 24882706 False 3 50;50;0 5.12 False ENSG00000173588 ENSG00000173588 HGNC:17966 COL4A1 gene COL4A1 Expert Review Green;Literature;NHS GMS Hydrocephalus Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brain small vessel disease with or without ocular anomalies, OMIM:175780 23225343 False 3 50;50;0 5.12 False ENSG00000187498 ENSG00000187498 HGNC:2202 CRB2 gene CRB2 Expert Review Green;Literature;NHS GMS Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal Ventriculomegaly with cystic kidney disease, OMIM:219730 25557780 False 3 50;50;0 5.12 False ENSG00000148204 ENSG00000148204 HGNC:18688 DAG1 gene DAG1 Expert Review Green;Literature;NHS GMS Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, OMIM:613818 False 3 50;50;0 5.12 False ENSG00000173402 ENSG00000173402 HGNC:2666 DENND5A gene DENND5A Expert Review Green;Literature;NHS GMS Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 49, OMIM:617281 27866705; 27431290 False 3 50;50;0 5.12 False ENSG00000184014 ENSG00000184014 HGNC:19344 DHCR24 gene DHCR24 Expert Review Green;Literature;NHS GMS Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal Desmosterolosis, OMIM:602398 11519011; 21559050 False 3 50;50;0 5.12 False ENSG00000116133 ENSG00000116133 HGNC:2859 EEF2 gene EEF2 Expert Review Green;Literature Hydrocephalus Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown hydrocephaly 33355653 False 3 100;0;0 5.12 False ENSG00000167658 ENSG00000167658 HGNC:3214 EML1 gene EML1 Expert Review Green;Literature;NHS GMS Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal Band heterotopia, OMIM:600348 24859200;28556411 False 3 0;100;0 5.12 False ENSG00000066629 ENSG00000066629 HGNC:3330 FAM20C gene FAM20C Expert Review Green;Literature;NHS GMS Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal Raine syndrome, OMIM:259775 19250384; 17924334 False 3 50;50;0 5.12 False ENSG00000177706 ENSG00000177706 HGNC:22140 FANCB gene FANCB Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;UKGTN Hydrocephalus Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Vacterl Association, X-Linked, With Or Without Hydrocephalus, MONDO:0010752;Fanconi anemia, complementation group B, OMIM:300514 21910217;15502827 False 3 50;50;0 5.12 False ENSG00000181544 ENSG00000181544 HGNC:3583 FGFR1 gene FGFR1 Expert Review Green;Literature;NHS GMS Hydrocephalus Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pfeiffer syndrome, OMIM:101600 False 3 50;50;0 5.12 False Other - please provide details in the comments ENSG00000077782 ENSG00000077782 HGNC:3688 FGFR2 gene FGFR2 Expert Review Green;Literature;NHS GMS Hydrocephalus Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Apert syndrome, OMIM:101200;Crouzon syndrome, OMIM:123500 16691624; 7719344 False 3 50;50;0 5.12 False ENSG00000066468 ENSG00000066468 HGNC:3689 FGFR3 gene FGFR3 Expert Review Green;Literature;NHS GMS Hydrocephalus Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Achondroplasia, OMIM:100800;Thanatophoric dysplasia, OMIM:187600;Crouzon syndrome with acanthosis nigricans, OMIM:612247;Muenke syndrome, OMIM:602849 8078586 False 3 50;50;0 5.12 False ENSG00000068078 ENSG00000068078 HGNC:3690 FKRP gene FKRP Expert Review Green;Literature;NHS GMS Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, OMIM:613153 15121789; 20236121 False 3 50;50;0 5.12 False ENSG00000181027 ENSG00000181027 HGNC:17997 FKTN gene FKTN Expert Review Green;Literature;NHS GMS Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, OMIM:253800 9690476; 10545611; 12601708; 18177472 False 3 50;50;0 5.12 False ENSG00000106692 ENSG00000106692 HGNC:3622 FLVCR2 gene FLVCR2 Expert Review Green;Literature;NHS GMS Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome, OMIM:225790 20206334 False 3 50;50;0 5.12 False ENSG00000119686 ENSG00000119686 HGNC:20105 GFAP gene GFAP Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Hydrocephalus Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Alexander disease, OMIM:203450 12034785 False 3 50;50;0 5.12 False ENSG00000131095 ENSG00000131095 HGNC:4235 GLI3 gene GLI3 Expert Review Green;Literature;NHS GMS Hydrocephalus Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Greig cephalopolysyndactyly syndrome, OMIM:175700 24736735 False 3 50;50;0 5.12 False ENSG00000106571 ENSG00000106571 HGNC:4319 GPSM2 gene GPSM2 Expert Review Green;Literature;NHS GMS Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal Chudley-McCullough syndrome, OMIM:604213 22578326 False 3 50;50;0 5.12 False ENSG00000121957 ENSG00000121957 HGNC:29501 GUSB gene GUSB Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis VII, OMIM:253220 12403825;12522561 False 3 50;50;0 5.12 False ENSG00000169919 ENSG00000169919 HGNC:4696 HYLS1 gene HYLS1 Expert Review Green;Literature;NHS GMS Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal Hydrolethalus syndrome, OMIM:236680 15843405;18648327;19400947;19656802;32509774 False 3 40;60;0 5.12 False Other - please provide details in the comments ENSG00000198331 ENSG00000198331 HGNC:26558 IDS gene IDS Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Hydrocephalus Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mucopolysaccharidosis II, OMIM:309900 False 3 50;50;0 5.12 False ENSG00000010404 ENSG00000010404 HGNC:5389 ISPD gene ISPD Expert Review Green;Literature;NHS GMS Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, OMIM:614643 22522420 False 3 50;50;0 5.12 False ENSG00000214960 ENSG00000214960 HGNC:37276 KIAA0586 gene KIAA0586 Expert Review Green;Literature;NHS GMS Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 14 with polydactyly, OMIM:616546 26166481 False 3 50;50;0 5.12 False ENSG00000100578 ENSG00000100578 HGNC:19960 KIAA1109 gene KIAA1109 Expert Review Green;Literature;NHS GMS Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal Alkuraya-Kucinskas syndrome, OMIM:617822 25558065;29290337 False 3 50;50;0 5.12 False ENSG00000138688 ENSG00000138688 HGNC:26953 KIDINS220 gene KIDINS220 Expert Review Green;Literature Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal Ventriculomegaly and arthrogryposis, OMIM:619501 32909676;33205811;28934391;22048169 False 3 100;0;0 5.12 False ENSG00000134313 ENSG00000134313 HGNC:29508 L1CAM gene L1CAM Emory Genetics Laboratory;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Hydrocephalus Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Corpus callosum, partial agenesis of, OMIM:304100;CRASH syndrome, OMIM:303350;Hydrocephalus due to aqueductal stenosis, OMIM:307000;Hydrocephalus with congential idiopathic intestinal pseudoobstruction, OMIM:307000;Hydrocephalus with Hirschsprung disease, OMIM:307000;MASA syndrome, OMIM:303350 8947027;11438988 False 3 50;50;0 5.12 False ENSG00000198910 ENSG00000198910 HGNC:6470 LAMB1 gene LAMB1 Expert Review Green;Literature;NHS GMS Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal Lissencephaly 5, OMIM:615191 23472759; 25925986 False 3 50;50;0 5.12 False ENSG00000091136 ENSG00000091136 HGNC:6486 LARGE1 gene LARGE1 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, OMIM:613154 19067344;19299310;12966029 False 3 50;50;0 5.12 False ENSG00000133424 ENSG00000133424 HGNC:6511 MAN2B1 gene MAN2B1 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal Mannosidosis, alpha-, types I and II, OMIM:248500 9915946 False 3 0;100;0 5.12 False ENSG00000104774 ENSG00000104774 HGNC:6826 MPDZ gene MPDZ Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal Hydrocephalus, congenital, 2, with or without brain or eye anomalies, OMIM:615219 23240096;28460636;28556411;29499638 False 3 50;50;0 5.12 False ENSG00000107186 ENSG00000107186 HGNC:7208 NF1 gene NF1 Expert Review Green;Literature;NHS GMS Hydrocephalus Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurofibromatosis, type 1, OMIM:162200 10588837 False 3 50;50;0 5.12 False ENSG00000196712 ENSG00000196712 HGNC:7765 NSD1 gene NSD1 Expert Review Green;Literature;NHS GMS Hydrocephalus Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Sotos syndrome 1, OMIM:117550 False 3 50;50;0 5.12 False ENSG00000165671 ENSG00000165671 HGNC:14234 OSTM1 gene OSTM1 Expert Review Green;Literature;NHS GMS Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 5, OMIM:259720 False 3 50;50;0 5.12 False ENSG00000081087 ENSG00000081087 HGNC:21652 PIK3CA gene PIK3CA Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Hydrocephalus Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, OMIM:602501 22729224 False 3 50;50;0 5.12 False ENSG00000121879 ENSG00000121879 HGNC:8975 PIK3R2 gene PIK3R2 Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Hydrocephalus Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387 22729224;23745724 False 3 50;50;0 5.12 False Other - please provide details in the comments ENSG00000105647 ENSG00000105647 HGNC:8980 PLG gene PLG Expert Review Green;Literature;NHS GMS Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal Plasminogen deficiency, type I, OMIM:217090;Dysplasminogenemia, OMIM:217090 16849641; 9242524; 10233898 False 3 50;50;0 5.12 False ENSG00000122194 ENSG00000122194 HGNC:9071 POMGNT1 gene POMGNT1 Expert Review Green;Literature;NHS GMS Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, OMIM:253280 19067344 False 3 50;50;0 5.12 False ENSG00000085998 ENSG00000085998 HGNC:19139 POMGNT2 gene POMGNT2 Expert Review Green;Literature;NHS GMS Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, OMIM:614830 False 3 0;100;0 5.12 False ENSG00000144647 ENSG00000144647 HGNC:25902 POMK gene POMK Expert Review Green;Literature;NHS GMS Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, OMIM:615249 23519211; 24556084; 24556084 False 3 50;50;0 5.12 False ENSG00000185900 ENSG00000185900 HGNC:26267 POMT1 gene POMT1 Emory Genetics Laboratory;Expert Review Green;NHS GMS Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, OMIM:236670 12369018 False 3 0;100;0 5.12 False ENSG00000130714 ENSG00000130714 HGNC:9202 POMT2 gene POMT2 Emory Genetics Laboratory;Expert Review Green;NHS GMS Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150 15894594;16701995;17878207 False 3 50;50;0 5.12 False ENSG00000009830 ENSG00000009830 HGNC:19743 PPP2R5D gene PPP2R5D Expert Review Green;Literature;NHS GMS Hydrocephalus Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 35, OMIM:616355 25533962; 26168268; 25972378 False 3 50;50;0 5.12 False ENSG00000112640 ENSG00000112640 HGNC:9312 PTCH1 gene PTCH1 Expert Review Green;Literature;NHS GMS Hydrocephalus Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Basal cell nevus syndrome, OMIM:109400 19557015 False 3 50;50;0 5.12 False ENSG00000185920 ENSG00000185920 HGNC:9585 PTEN gene PTEN Expert Review Green;Literature;NHS GMS Hydrocephalus Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Macrocephaly/autism syndrome, OMIM:605309 15805158; 17286265; 23160955 False 3 50;50;0 5.12 False ENSG00000171862 ENSG00000171862 HGNC:9588 RNF125 gene RNF125 Expert Review Green;Literature;NHS GMS Hydrocephalus Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tenorio syndrome, OMIM:616260 25196541 False 3 50;50;0 5.12 False ENSG00000101695 ENSG00000101695 HGNC:21150 RPS6KA3 gene RPS6KA3 Expert Review Green;Literature;NHS GMS Hydrocephalus Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Coffin-Lowry syndrome, OMIM:303600 8955270; 16879200 False 3 50;50;0 5.12 False ENSG00000177189 ENSG00000177189 HGNC:10432 SKI gene SKI Expert Review Green;Literature;NHS GMS Hydrocephalus Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Shprintzen-Goldberg syndrome, OMIM:182212 23023332 False 3 50;50;0 5.12 False ENSG00000157933 ENSG00000157933 HGNC:10896 SMARCC1 gene SMARCC1 Expert Review Green;Literature Hydrocephalus Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital hydrocephalus;Aqueductal stenosis;Septal agenesis;Corpus callosum abnormalities;{Hydrocephalus, congenital, 5, susceptibility to}, OMIM:620241 24170322;29983323;32732226;33077954 False 3 100;0;0 5.12 False ENSG00000173473 ENSG00000173473 HGNC:11104 SNX10 gene SNX10 Expert Review Green;Literature;NHS GMS Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 8, OMIM:615085 22499339; 23123320 False 3 50;50;0 5.12 False ENSG00000086300 ENSG00000086300 HGNC:14974 STRADA gene STRADA Expert Review Green;NHS GMS;Other Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087 27170158;17522105;28688840 False 3 0;100;0 5.12 False ENSG00000266173 ENSG00000266173 HGNC:30172 SUFU gene SUFU Expert Review Green;Literature;NHS GMS Hydrocephalus Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Basal cell nevus syndrome, OMIM:109400 19533801; 25403219 False 3 50;50;0 5.12 False ENSG00000107882 ENSG00000107882 HGNC:16466 SUMF1 gene SUMF1 Expert Review Green;Literature;NHS GMS Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal Multiple sulfatase deficiency, OMIM:272200 12757705; 12757706 False 3 0;100;0 5.12 False ENSG00000144455 ENSG00000144455 HGNC:20376 TBC1D32 gene TBC1D32 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome IX, OMIM:258865;orofaciodigital syndrome IX, MONDO:0009795 32573025;31130284;32060556;24285566;35875813 False 3 100;0;0 5.12 False ENSG00000146350 ENSG00000146350 HGNC:21485 TCF12 gene TCF12 Expert Review Green;Literature;NHS GMS Hydrocephalus Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Craniosynostosis 3, OMIM:615314 23354436 False 3 50;50;0 5.12 False ENSG00000140262 ENSG00000140262 HGNC:11623 TCIRG1 gene TCIRG1 Expert list;Expert Review Green Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 1, OMIM:259700 26970326 False 3 100;0;0 5.12 False ENSG00000110719 ENSG00000110719 HGNC:11647 TMEM5 gene TMEM5 Expert Review Green;Literature;NHS GMS Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, OMIM:615041 False 3 50;50;0 5.12 False ENSG00000118600 ENSG00000118600 HGNC:13530 TNFRSF11A gene TNFRSF11A Expert list;Expert Review Green Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 7, OMIM:612301 False 3 100;0;0 5.12 False ENSG00000141655 ENSG00000141655 HGNC:11908 TRIM71 gene TRIM71 Expert Review Green;Literature Hydrocephalus Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hydrocephalus, congenital communicating, 1, OMIM:618667 29983323;32168371;30975633;33077954 False 3 100;0;0 5.12 False ENSG00000206557 ENSG00000206557 HGNC:32669 TWIST1 gene TWIST1 Expert Review Green;Literature;NHS GMS Hydrocephalus Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Saethre-Chotzen syndrome with or without eyelid anomalies, OMIM:101400 False 3 50;50;0 5.12 False ENSG00000122691 ENSG00000122691 HGNC:12428 USP9X gene USP9X Expert Review Green;Literature;NHS GMS Hydrocephalus Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mental retardation, X-linked 99, OMIM:300919;Mental retardation, X-linked 99, syndromic, female-restricted OMIM:300968 26833328 False 3 50;50;0 5.12 False ENSG00000124486 ENSG00000124486 HGNC:12632 WASHC5 gene WASHC5 Expert Review Green;Literature;NHS GMS Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal Ritscher-Schinzel syndrome 1, OMIM:220210 24065355 False 3 50;50;0 5.12 False ENSG00000164961 ENSG00000164961 HGNC:28984 ZBTB20 gene ZBTB20 Expert Review Green;Literature;NHS GMS Hydrocephalus Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Primrose syndrome, OMIM:259050 25017102 False 3 50;50;0 5.12 False ENSG00000181722 ENSG00000181722 HGNC:13503 ZIC2 gene ZIC2 Expert Review Green;Literature;NHS GMS Hydrocephalus Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holoprosencephaly 5, OMIM:609637 19955556 False 3 50;50;0 5.12 False ENSG00000043355 ENSG00000043355 HGNC:12873 ZIC3 gene ZIC3 Expert Review Green;Literature;NHS GMS Hydrocephalus Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females VACTERL association, X-linked, OMIM:314390 20452998; 21465648 False 3 0;100;0 5.12 False ENSG00000156925 ENSG00000156925 HGNC:12874 ARX gene ARX Expert Review Amber;Literature;NHS GMS Hydrocephalus Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Hydranencephaly with abnormal genitalia, OMIM:300215 14722918 False 2 0;100;0 5.12 False ENSG00000004848 ENSG00000004848 HGNC:18060 B3GNT2 gene B3GNT2 Expert Review Amber;NHS GMS;Other Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13, MONDO:0014120 23359570; 23877401 False 2 0;100;0 5.12 False ENSG00000170340 ENSG00000170340 HGNC:15629 EBP gene EBP Expert Review Amber;Literature;NHS GMS Hydrocephalus Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females MEND syndrome, OMIM:300960 20949533 False 2 0;100;0 5.12 False ENSG00000147155 ENSG00000147155 HGNC:3133 FAAP100 gene FAAP100 Expert Review Amber;Literature Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group X, OMIM:621258 40232843;40244696 False 2 100;0;0 5.12 False ENSG00000185504 ENSG00000185504 HGNC:26171 FLNA gene FLNA Expert Review Amber;Literature;NHS GMS Hydrocephalus Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Otopalatodigital syndrome, type II, OMIM:304120 False 2 0;100;0 5.12 False ENSG00000196924 ENSG00000196924 HGNC:3754 FSD1L gene FSD1L Expert Review Amber;Literature Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 41720098;41720099 False 2 100;0;0 5.12 False ENSG00000106701 ENSG00000106701 HGNC:13753 HDAC6 gene HDAC6 Expert Review Amber;Literature;NHS GMS Hydrocephalus Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females ?Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, OMIM:300863 20181727; 16001442 False 2 0;100;0 5.12 False ENSG00000094631 ENSG00000094631 HGNC:14064 ICK gene ICK Expert Review Amber;Literature;NHS GMS Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal Endocrine-cerebroosteodysplasia, OMIM:612651;Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980 19185282 False 2 0;100;0 5.12 False Other - please provide details in the comments ENSG00000112144 ENSG00000112144 HGNC:21219 KIF26A gene KIF26A Expert Review Amber;Other Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia, complex, with other brain malformations 11, OMIM:620156;cortical dysplasia, complex, with other brain malformations 11 MONDO:0859332 36228617;36564622;39305096 False 2 100;0;0 5.12 False ENSG00000066735 ENSG00000066735 HGNC:20226 KIF7 gene KIF7 Expert Review Amber;Literature;NHS GMS Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal ?Hydrolethalus syndrome 2, OMIM:614120 21552264;26174511 False 2 0;100;0 5.12 False ENSG00000166813 ENSG00000166813 HGNC:30497 LDB1 gene LDB1 Expert Review Amber;Literature Hydrocephalus Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital hydrocephalus, MONDO:0016349 39680505;38091987;33077954 False 2 100;0;0 5.12 False ENSG00000198728 ENSG00000198728 HGNC:6532 MTM1 gene MTM1 Expert Review Amber;Literature;NHS GMS Hydrocephalus Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Myopathy, centronuclear, X-linked, OMIM:310400 8588581; 9931531; 10790201 False 2 0;100;0 5.12 False ENSG00000171100 ENSG00000171100 HGNC:7448 MYMK gene MYMK Expert Review Amber;Literature;NHS GMS Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal Carey-Fineman-Ziter syndrome, OMIM:254940;Carey-Fineman-Ziter syndrome, MONDO:0009700 28681861 False 2 0;75;25 5.12 False ENSG00000187616 ENSG00000187616 HGNC:33778 P4HB gene P4HB Expert Review Amber;Literature;NHS GMS Hydrocephalus Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cole-Carpenter syndrome 1, OMIM:112240 25683117;30063094;29263160;29384951 False 2 25;75;0 5.12 False ENSG00000185624 ENSG00000185624 HGNC:8548 PTCH2 gene PTCH2 Expert Review Amber;Literature;NHS GMS Hydrocephalus Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Basal cell nevus syndrome, OMIM:109400 18285427;23479190;3986729 False 2 0;100;0 5.12 False ENSG00000117425 ENSG00000117425 HGNC:9586 SEC24D gene SEC24D Expert Review Amber;Literature;NHS GMS Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal Cole-Carpenter syndrome 2, OMIM:616294 25683121;30462379;27942778;26467156 False 2 25;75;0 5.12 False ENSG00000150961 ENSG00000150961 HGNC:10706 WNT3 gene WNT3 Expert Review Amber;Literature;NHS GMS Hydrocephalus Neurology BIALLELIC, autosomal or pseudoautosomal ?Tetra-amelia syndrome 1, OMIM:273395 14872406 False 2 0;100;0 5.12 False ENSG00000108379 ENSG00000108379 HGNC:12782