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 AHI1 gene AHI1 Expert Review Green Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 3;Joubert syndrome;Joubert syndrome-3. False 3 100;0;0 6.17 False ENSG00000135541 ENSG00000135541 HGNC:21575 ARL13B gene ARL13B Expert Review Green Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 8 18674751;25138100 False 3 100;0;0 6.17 False ENSG00000169379 ENSG00000169379 HGNC:25419 ARMC9 gene ARMC9 Expert Review Green Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 30, 617622 28625504 False 3 100;0;0 6.17 False ENSG00000135931 ENSG00000135931 HGNC:20730 B9D2 gene B9D2 Expert Review Green Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 34, OMIM:614175;Meckel syndrome 10, OMIM:614175;Meckel syndrome, type 10, MONDO:0013609 21763481 - two affected fetuses form the same family displayed overlapping phenotypes including cystic kidneys, ductal plate malformation, polydactyly, and occipital encephalocele. Homozygous variant identified in this gene, which was not present in the unaffected son. Homozygous variants were not identified in other known Meckel syndrome genes;26092869 - two further cases with Joubert syndrome reported from two different families False 3 0;0;100 6.17 False ENSG00000123810 ENSG00000123810 HGNC:28636 C2CD3 gene C2CD3 Expert Review Green Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal short-rib polydactyly syndromes (SRPS;MIM208500);MIM 613091, 263520), Jeune asphyxiating thoracic dystrophy (JATD;?Orofaciodigital syndrome XIV, 615948;Orofaciodigital syndromes (OFDS, MIM 311200) 24997988;26044959;27094867 False 3 0;50;50 6.17 False ENSG00000168014 ENSG00000168014 HGNC:24564 C5orf42 gene C5orf42 Expert Review Green Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Oral-facial-digital syndrome type VI;Joubert syndrome 17 22693042;25920555;22425360 False 3 100;0;0 6.17 False ENSG00000197603 ENSG00000197603 HGNC:25801 CBY1 gene CBY1 Expert Review Green;Literature;NHS GMS Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal intellectual disability;cerebellar ataxia;molar tooth sign;polydactyly;Joubert syndrome 33131181;25103236;25220153 False 3 100;0;0 6.17 False ENSG00000100211 ENSG00000100211 HGNC:1307 CC2D2A gene CC2D2A Expert Review Green Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 9;COACH syndrome;Joubert syndrome with oculorenal defect;Meckel syndrome 6;Meckel syndrome False 3 100;0;0 6.17 False ENSG00000048342 ENSG00000048342 HGNC:29253 CENPF gene CENPF Expert Review Green Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal Stromme syndrome, OMIM:243605;Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome 26820108 False 3 100;0;0 6.17 False ENSG00000117724 ENSG00000117724 HGNC:1857 CEP104 gene CEP104 Expert Review Green Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 25, 616781;Joubert syndrome 25 26477546 False 3 100;0;0 6.17 False ENSG00000116198 ENSG00000116198 HGNC:24866 CEP290 gene CEP290 Expert Review Green Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal 610189;Meckel syndrome 4;Senior-Loken syndrome;611755;Joubert syndrome 5;Joubert syndrome with oculorenal defect;610188;Senior-Loken syndrome 6;611134;Meckel syndrome 20690115;18327255 False 3 50;0;50 6.17 False ENSG00000198707 ENSG00000198707 HGNC:29021 CEP41 gene CEP41 Expert Review Green Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 15 22246503 False 3 100;0;0 6.17 False ENSG00000106477 ENSG00000106477 HGNC:12370 CRB2 gene CRB2 Expert Review Green Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal Ventriculomegaly with cystic kidney disease 219730 25557780 False 3 100;0;0 6.17 False ENSG00000148204 ENSG00000148204 HGNC:18688 CSPP1 gene CSPP1 Expert Review Green Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Meckel syndrome;Joubert syndrome 21;Meckel-Gruber syndrome 24360807;24360803;24360808 False 3 100;0;0 6.17 False ENSG00000104218 ENSG00000104218 HGNC:26193 DDX59 gene DDX59 Expert Review Green Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome V, 174300 29127725;23972372;28711741 False 3 50;0;50 6.17 False ENSG00000118197 ENSG00000118197 HGNC:25360 DHCR7 gene DHCR7 Expert Review Green Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal Smith-Lemli-Opitz syndrome 270400 9634533 False 3 100;0;0 6.17 False ENSG00000172893 ENSG00000172893 HGNC:2860 EVC gene EVC Expert Review Green Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal Ellis-van Creveld syndrome, OMIM:225500 False 3 0;0;0 6.17 False ENSG00000072840 ENSG00000072840 HGNC:3497 EVC2 gene EVC2 Expert Review Green;NHS GMS Neurological ciliopathies Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ellis-van Creveld syndrome, OMIM:225500;Weyers acrofacial dysostosis, OMIM:193530 38531627;23220543;19810119;16404586 False 3 100;0;0 6.17 False ENSG00000173040 ENSG00000173040 HGNC:19747 EXOC3L2 gene EXOC3L2 Expert list;Expert Review Green;NHS GMS Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal Brain malformation renal syndrome, OMIM:620943 28749478;27894351;30327448;34974531 False 3 50;25;25 6.17 False ENSG00000130201 ENSG00000283632 HGNC:30162 FAM149B1 gene FAM149B1 Expert Review Green;Literature;NHS GMS Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 36, OMIM:618763 30905400;34828254 False 3 67;33;0 6.17 False ENSG00000138286 ENSG00000138286 HGNC:29162 GLI3 gene GLI3 Expert Review Green Neurological ciliopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Greig cephalopolysyndactyly syndrome, OMIM:175700;Pallister-Hall syndrome, OMIM:146510 False 3 0;0;0 6.17 False ENSG00000106571 ENSG00000106571 HGNC:4319 HYLS1 gene HYLS1 Expert Review Green Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Hydrolethalus syndrome, 236680 26830932 - report in two siblings with Joubert syndrome;19656802 - impairment in ciligenesis;18648327 - Hydrolethalus syndrome;15843405 - Hydrolethalus syndrome False 3 0;0;0 6.17 False ENSG00000198331 ENSG00000198331 HGNC:26558 ICK gene ICK Expert Review Green;Literature Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal Endocrine-cerebroosteodysplasia, OMIM:612651;Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980 19185282;27069622;27466187 False 3 0;0;0 6.17 False ENSG00000112144 ENSG00000112144 HGNC:21219 IFT74 gene IFT74 Expert Review Green;Literature;NHS GMS Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 40, OMIM:619582;Joubert syndrome 40, MONDO:0030462 33531668 False 3 100;0;0 6.17 False ENSG00000096872 ENSG00000096872 HGNC:21424 INPP5E gene INPP5E Expert Review Green Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Joubert syndrome 1 23386033;26748598 False 3 100;0;0 6.17 False ENSG00000148384 ENSG00000148384 HGNC:21474 KIAA0556 gene KIAA0556 Expert Review Green;NHS GMS Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 26, OMIM:616784;Joubert syndrome 26, MONDO:0014771 26714646;27245168;31197031;31197031;36580738;40725402;40428346;32164589;30982090 False 3 100;0;0 6.17 False ENSG00000047578 ENSG00000047578 HGNC:29068 KIAA0586 gene KIAA0586 Expert Review Green Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 23;Joubert syndrome;Short-rib thoracic dysplasia 14 with polydactyly;Short-rib dysplasia 14 with polydactyly 26096313 False 3 100;0;0 6.17 False ENSG00000100578 ENSG00000100578 HGNC:19960 KIAA0753 gene KIAA0753 Expert Review Green Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome XV 617127 26643951 False 3 50;0;50 6.17 False ENSG00000198920 ENSG00000198920 HGNC:29110 KIF7 gene KIF7 Expert Review Green Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 12 200990;Acrocallosal syndrome 200990 21633164 False 3 100;0;0 6.17 False ENSG00000166813 ENSG00000166813 HGNC:30497 LAMA1 gene LAMA1 Expert Review;Expert Review Green;NHS GMS Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal Poretti-Boltshauser syndrome OMIM:615960;ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0014419 25105227;34423300 False 3 100;0;0 6.17 False ENSG00000101680 ENSG00000101680 HGNC:6481 MKS1 gene MKS1 Expert Review Green Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal occipital encephalocele;Joubert syndrome;Bardet-Biedl syndrome;Joubert syndrome 28;249000;polydactyly;polycystic kidneys;Meckel-Gruber syndrome;Meckel syndrome;renal fibrosis 26490104;17437276;18327255;24886560;16415886 False 3 67;0;33 6.17 False Other - please provide details in the comments ENSG00000011143 ENSG00000011143 HGNC:7121 NPHP1 gene NPHP1 Expert Review Green Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 4;Senior-Loken syndrome;256100 Senior-Loken syndrome-1, 266900;609583 Nephronophthisis 1, juvenile;Nephronophthisis 15138899;22982934;15689444 False 3 100;0;0 6.17 False ENSG00000144061 ENSG00000144061 HGNC:7905 NPHP3 gene NPHP3 Expert Review Green Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal Renal-hepatic-pancreatic dysplasia;Senior-Loken syndrome;Nephronophthisis 3, 604387;Meckel syndrome 7, 267010;Renal-hepatic-pancreatic dysplasia 1, 208540;Nephronophthisis False 3 0;0;0 6.17 False ENSG00000113971 ENSG00000113971 HGNC:7907 OFD1 gene OFD1 Expert Review Green Neurological ciliopathies Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Joubert syndrome 10;X-linked Joubert syndrome;Orofaciodigital syndrome I 19800048;22353940 False 3 100;0;0 6.17 False ENSG00000046651 ENSG00000046651 HGNC:2567 PIBF1 gene PIBF1 Expert Review Green Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 33, OMIM:617767;ataxia;vermis hypoplasia;developmental delay;thick superior cerebellar peduncles;superior cerebellar dysplasia 26167768;29695797;30858804 False 3 100;0;0 6.17 False ENSG00000083535 ENSG00000083535 HGNC:23352 PMM2 gene PMM2 Expert Review Green Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ia 212065 9140401 False 3 100;0;0 6.17 False ENSG00000140650 ENSG00000140650 HGNC:9115 RPGRIP1L gene RPGRIP1L Expert Review Green Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 7;Meckel syndrome 5;Joubert syndrome;Meckel syndrome;Meckel-Gruber syndrome 17558409;17558407;19574260 False 3 100;0;0 6.17 False ENSG00000103494 ENSG00000103494 HGNC:29168 SCLT1 gene SCLT1 Expert Review Green Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal Oro-facio-digital syndrome type IX (Adly (2014) Hum Mutat 35,36);No OMIM phenotype 15797711 False 3 50;0;50 6.17 False ENSG00000151466 ENSG00000151466 HGNC:26406 SUFU gene SUFU Expert list;Expert Review Green;NHS GMS Neurological ciliopathies Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Joubert syndrome 32, OMIM:617757 21289193;28965847;33024317;34675124 False 3 75;25;0 6.17 False ENSG00000107882 ENSG00000107882 HGNC:16466 TCTN1 gene TCTN1 Expert Review Green Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 20301500;22693042;26489806;21725307;26477546;28631893 False 3 100;0;0 6.17 False ENSG00000204852 ENSG00000204852 HGNC:26113 TCTN2 gene TCTN2 Expert Review Green Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal Meckel syndrome;Joubert syndrome 24;Joubert syndrome, Meckel-Gruber syndrome 25118024;21565611 False 3 100;0;0 6.17 False ENSG00000168778 ENSG00000168778 HGNC:25774 TCTN3 gene TCTN3 Expert Review Green Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Orofaciodigital syndrome IV;Joubert syndrome 18;Meckel-Gruber;Mohr-Majewski syndrome 25118024;22883145 False 3 100;0;0 6.17 False ENSG00000119977 ENSG00000119977 HGNC:24519 TMEM107 gene TMEM107 Expert Review Green Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 13 617562;?Joubert syndrome 29 617562;Orofaciodigital syndrome XVI 617563 26518474;26123494;22698544;26595381 False 3 0;0;0 6.17 False ENSG00000179029 ENSG00000179029 HGNC:28128 TMEM138 gene TMEM138 Expert Review Green Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome with oculorenal defect;Joubert syndrome 16 22282472 False 3 100;0;0 6.17 False ENSG00000149483 ENSG00000149483 HGNC:26944 TMEM216 gene TMEM216 Expert Review Green Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome: Meckel-Gruber syndrome;Joubert syndrome with oculorenal defect;Meckel syndrome;Joubert syndrome 2 22282472;20036350;20512146 False 3 100;0;0 6.17 False ENSG00000187049 ENSG00000187049 HGNC:25018 TMEM218 gene TMEM218 Expert Review Green;Literature Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 39, OMIM:619562 25161209;33791682;35137054 False 3 100;0;0 6.17 False ENSG00000150433 ENSG00000150433 HGNC:27344 TMEM231 gene TMEM231 Expert Review Green Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal Meckel syndrome;Joubert syndrome 20;Joubert syndrome with oculorenal defect;Joubert syndrome 20, 614970;Meckel syndrome 11, 615397 False 3 0;0;0 6.17 False ENSG00000205084 ENSG00000205084 HGNC:37234 TMEM237 gene TMEM237 Expert Review Green Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Joubert syndrome with oculorenal defect;Joubert syndrome 14 22152675;20301500 False 3 100;0;0 6.17 False ENSG00000155755 ENSG00000155755 HGNC:14432 TMEM67 gene TMEM67 Expert Review Green Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;nephronophthisis;COACH syndrome;Joubert syndrome 6;?Bardet-Biedl syndrome?;Senior-Boichis syndrome;613550;607361;Meckel-Gruber syndrome;Meckel syndrome;610688;Nephronophthisis 11;216360 PMID: 16415887;PMID: 17160906;PMID: 19058225;PMID: 19508969;PMID: 20607301;PMID: 18327255 False 3 67;0;33 6.17 False ENSG00000164953 ENSG00000164953 HGNC:28396 TOGARAM1 gene TOGARAM1 Expert Review Green;Literature;NHS GMS Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 37, OMIM:619185;Joubert syndrome 37, MONDO:0030933 32747439;32453716 False 3 100;0;0 6.17 False ENSG00000198718 ENSG00000198718 HGNC:19959 TXNDC15 gene TXNDC15 Expert list;Expert Review Green Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 14, OMIM:619879 27894351 False 3 0;100;0 6.17 False ENSG00000113621 ENSG00000113621 HGNC:20652 VPS13B gene VPS13B Expert Review Green Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal Cohen syndrome, 216550;COHEN SYNDROME False 3 100;0;0 6.17 False ENSG00000132549 ENSG00000132549 HGNC:2183 ZSWIM6 gene ZSWIM6 Expert Review Green Neurological ciliopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Acromelic frontonasal dysostosis 603671 25105228 False 3 100;0;0 6.17 False Other - please provide details in the comments ENSG00000130449 ENSG00000130449 HGNC:29316 ARL3 gene ARL3 Expert list;Expert Review Amber Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 35, OMIM:61816 30269812;16565502;33748123;31743939;26964041;30932721;34485303 False 2 100;0;0 6.17 False ENSG00000138175 ENSG00000138175 HGNC:694 CEP76 gene CEP76 Expert Review Amber;Literature Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal retinitis pigmentosa, MONDO:0019200;Joubert syndrome, MONDO:0018772;Bardet-Biedl syndrome, MONDO:0015229 41105778 False 2 100;0;0 6.17 False ENSG00000101624 ENSG00000101624 HGNC:25727 LRRC45 gene LRRC45 Expert Review Amber;Literature Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal ciliopathy, MONDO:0005308;Abnormal brain morphology, HP:0012443;neurodevelopmental disorder, MONDO:0700092 34716235;39638757 False 2 100;0;0 6.17 False ENSG00000169683 ENSG00000169683 HGNC:28302 POC1B gene POC1B Expert Review Amber Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 20 615973, AUTOSOMAL-RECESSIVE CONE-ROD DYSTROPHY;Joubert Syndrome;Senior-Loken Syndrome False 2 50;0;50 6.17 False ENSG00000139323 ENSG00000139323 HGNC:30836 ZNF423 gene ZNF423 Expert Review Amber Neurological ciliopathies Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Joubert syndrome 19, OMIM:614844;Nephronophthisis 14, OMIM:614844 22863007;32925911;33323469 False 2 0;50;50 6.17 False ENSG00000102935 ENSG00000102935 HGNC:16762 B9D1 gene B9D1 Expert Review Red Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 9, OMIM:614209;Meckel syndrome 9, MONDO:0013630;Joubert syndrome 27, OMIM:617120;Joubert syndrome 27, MONDO:0014927 21493627 (case report, with an additional variant in the CEP290 gene suggesting oligogenetic inheritance);24886560 (2 cases with Joubert);25920555 (report a case with heterozygous mutations in CC2D2A and B9D1) False 1 0;0;100 6.17 False ENSG00000108641 ENSG00000108641 HGNC:24123 CCDC28B gene CCDC28B Expert list;Expert Review Red Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome, MONDO:0018772 32139166;23727834 False 1 0;50;50 6.17 False ENSG00000160050 ENSG00000160050 HGNC:28163 EXOC8 gene EXOC8 Expert Review Red Neurological ciliopathies Neurology Unknown No OMIM phenotype;Joubert syndrome (Dixon-Salazar (2012) Sci Transl Med 4, 138ra78) 22700954 False 1 0;0;100 6.17 False ENSG00000116903 ENSG00000116903 HGNC:24659 KIF14 gene KIF14 Expert Review Red Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 12, OMIM:616258;Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552 24128419 False 1 0;100;0 6.17 False ENSG00000118193 ENSG00000118193 HGNC:19181 PDE6D gene PDE6D Expert Review Red Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal ?Joubert syndrome 22;Joubert Syndrome and Senior-Loken Syndrome 24 gene panel;?Joubert syndrome 22, 615665 24166846 False 1 0;50;50 6.17 False ENSG00000156973 ENSG00000156973 HGNC:8788 RABL2A gene RABL2A Literature Neurological ciliopathies Neurology Unknown neural tube defects 33075816 False 1 0;0;100 6.17 False ENSG00000144134 ENSG00000144134 HGNC:9799 TAPT1 gene TAPT1 Expert Review Red Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 616897 26365339 False 1 0;0;100 6.17 False ENSG00000169762 ENSG00000169762 HGNC:26887 TBC1D32 gene TBC1D32 Expert Review Red Neurological ciliopathies Neurology BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome IX, OMIM:258865;orofaciodigital syndrome IX, MONDO:0009795;Alsahan-Harris syndrome, OMIM:621307;Alsahan-Harris syndrome, MONDO:0979871 32573025;31130284;32060556;24285566;35875813 False 1 0;0;0 6.17 False ENSG00000146350 ENSG00000146350 HGNC:21485 WDR63 gene WDR63 Expert Review Red Neurological ciliopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown occipital encephalocele and inconsistent brain lobulation;ciliopathy-like disorder False 1 0;0;0 6.17 False ENSG00000162643 ENSG00000162643 HGNC:30711