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 B9D1 gene B9D1 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Familial Neural Tube Defects BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 9, OMIM:614209;Meckel syndrome 9, MONDO:0013630;Joubert syndrome 27, OMIM:617120;Joubert syndrome 27, MONDO:0014927 False 1 0;0;0 1.11 False ENSG00000108641 ENSG00000108641 HGNC:24123 B9D2 gene B9D2 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Familial Neural Tube Defects BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 34, OMIM:614175;Meckel syndrome 10, OMIM:614175;Meckel syndrome, type 10, MONDO:0013609 False 1 0;0;0 1.11 False ENSG00000123810 ENSG00000123810 HGNC:28636 CC2D2A gene CC2D2A Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Familial Neural Tube Defects BIALLELIC, autosomal or pseudoautosomal Meckel Syndrome False 1 0;0;0 1.11 False ENSG00000048342 ENSG00000048342 HGNC:29253 CCL2 gene CCL2 Radboud University Medical Center, Nijmegen Familial Neural Tube Defects Susceptibility to spina bifida False 1 0;0;0 1.11 False ENSG00000108691 ENSG00000108691 HGNC:10618 CDON gene CDON Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Familial Neural Tube Defects MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holoprosencephaly False 1 0;0;0 1.11 False ENSG00000064309 ENSG00000064309 HGNC:17104 CEP290 gene CEP290 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Familial Neural Tube Defects BIALLELIC, autosomal or pseudoautosomal Meckel Syndrome False 1 0;0;0 1.11 False ENSG00000198707 ENSG00000198707 HGNC:29021 DLL3 gene DLL3 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Familial Neural Tube Defects BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis 1;Spondylocostal Dysostosis False 1 0;0;0 1.11 False ENSG00000090932 ENSG00000090932 HGNC:2909 FOXH1 gene FOXH1 Illumina TruGenome Clinical Sequencing Services Familial Neural Tube Defects MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holoprosencephaly False 1 0;0;0 1.11 False ENSG00000160973 ENSG00000160973 HGNC:3814 FUZ gene FUZ Radboud University Medical Center, Nijmegen Familial Neural Tube Defects Neural tube defects False 1 0;0;0 1.11 False ENSG00000010361 ENSG00000010361 HGNC:26219 GATA3 gene GATA3 UKGTN Familial Neural Tube Defects MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Sensorineural deafness, renal dysplasia, hypoparathyroidism False 1 0;0;0 1.11 False ENSG00000107485 ENSG00000107485 HGNC:4172 GDF3 gene GDF3 Radboud University Medical Center, Nijmegen Familial Neural Tube Defects MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Klippel-Feil syndrome False 1 0;0;0 1.11 False ENSG00000184344 ENSG00000184344 HGNC:4218 GDF6 gene GDF6 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Familial Neural Tube Defects MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Klippel-Feil syndrome;Klippel-Feil Syndrome False 1 0;0;0 1.11 False ENSG00000156466 ENSG00000156466 HGNC:4221 GLI2 gene GLI2 Illumina TruGenome Clinical Sequencing Services Familial Neural Tube Defects MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holoprosencephaly False 1 0;0;0 1.11 False ENSG00000074047 ENSG00000074047 HGNC:4318 HES7 gene HES7 Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Familial Neural Tube Defects BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis 4;Spondylocostal Dysostosis False 1 0;0;0 1.11 False ENSG00000179111 ENSG00000179111 HGNC:15977 HYLS1 gene HYLS1 UKGTN Familial Neural Tube Defects Meckel Syndrome False 1 0;0;0 1.11 False ENSG00000198331 ENSG00000198331 HGNC:26558 KCNJ10 gene KCNJ10 UKGTN Familial Neural Tube Defects MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Seizures, sensorineural deafness, ataxia, mental retardation False 1 0;0;0 1.11 False ENSG00000177807 ENSG00000177807 HGNC:6256 KIF14 gene KIF14 Radboud University Medical Center, Nijmegen Familial Neural Tube Defects BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 12, OMIM:616258;Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552 False 1 0;0;0 1.11 False ENSG00000118193 ENSG00000118193 HGNC:19181 LFNG gene LFNG Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Familial Neural Tube Defects BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis;Spondylocostal Dysostosis False 1 0;0;0 1.11 False ENSG00000106003 ENSG00000106003 HGNC:6560 MEOX1 gene MEOX1 Radboud University Medical Center, Nijmegen Familial Neural Tube Defects Klippel-Feil syndrome False 1 0;0;0 1.11 False ENSG00000005102 ENSG00000005102 HGNC:7013 MESP2 gene MESP2 UKGTN Familial Neural Tube Defects Spondylocostal Dysostosis False 1 0;0;0 1.11 False ENSG00000188095 ENSG00000188095 HGNC:29659 MKS1 gene MKS1 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Familial Neural Tube Defects BIALLELIC, autosomal or pseudoautosomal Meckel Syndrome False 1 0;0;0 1.11 False ENSG00000011143 ENSG00000011143 HGNC:7121 MTHFD1 gene MTHFD1 Other Familial Neural Tube Defects BIALLELIC, autosomal or pseudoautosomal Susceptibility to spina bifida False 1 0;0;0 1.11 False ENSG00000100714 ENSG00000100714 HGNC:7432 MTHFR gene MTHFR Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Familial Neural Tube Defects MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Susceptibility to neural tube defects;Neural tube defects,folate sensitive,susceptibility to False 1 0;0;0 1.11 False ENSG00000177000 ENSG00000177000 HGNC:7436 MTR gene MTR Radboud University Medical Center, Nijmegen Familial Neural Tube Defects BIALLELIC, autosomal or pseudoautosomal Neural tube defects,folate sensitive,susceptibility to False 1 0;0;0 1.11 False ENSG00000116984 ENSG00000116984 HGNC:7468 MTRR gene MTRR Radboud University Medical Center, Nijmegen Familial Neural Tube Defects BIALLELIC, autosomal or pseudoautosomal Neural tube defects,folate sensitive,susceptibility to False 1 0;0;0 1.11 False ENSG00000124275 ENSG00000124275 HGNC:7473 NODAL gene NODAL Illumina TruGenome Clinical Sequencing Services Familial Neural Tube Defects MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holoprosencephaly False 1 0;0;0 1.11 False ENSG00000156574 ENSG00000156574 HGNC:7865 NPHP3 gene NPHP3 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Familial Neural Tube Defects BIALLELIC, autosomal or pseudoautosomal Meckel Syndrome False 1 0;0;0 1.11 False ENSG00000113971 ENSG00000113971 HGNC:7907 PIK3CA gene PIK3CA Other;UKGTN Familial Neural Tube Defects Clove Syndrome;Cloves syndrome False 1 0;0;0 1.11 False ENSG00000121879 ENSG00000121879 HGNC:8975 PTCH1 gene PTCH1 Illumina TruGenome Clinical Sequencing Services Familial Neural Tube Defects MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holoprosencephaly False 1 0;0;0 1.11 False ENSG00000185920 ENSG00000185920 HGNC:9585 PTK7 gene PTK7 Radboud University Medical Center, Nijmegen Familial Neural Tube Defects Neural tube defects Wang (2015) Birth Defects Res A Clin Mol Teratol epub False 1 0;0;0 1.11 False ENSG00000112655 ENSG00000112655 HGNC:9618 RPGRIP1L gene RPGRIP1L Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Familial Neural Tube Defects BIALLELIC, autosomal or pseudoautosomal Meckel Syndrome False 1 0;0;0 1.11 False ENSG00000103494 ENSG00000103494 HGNC:29168 SHROOM3 gene SHROOM3 Radboud University Medical Center, Nijmegen Familial Neural Tube Defects Neural tube defects Lemay (2015) J Med Genet 52,493 False 1 0;0;0 1.11 False ENSG00000138771 ENSG00000138771 HGNC:30422 T gene T Other Familial Neural Tube Defects MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Susceptibility to neural tube defects False 1 0;0;0 1.11 False ENSG00000164458 ENSG00000164458 HGNC:11515 TBX6 gene TBX6 UKGTN Familial Neural Tube Defects Spondylocostal Dysostosis False 1 0;0;0 1.11 False ENSG00000149922 ENSG00000149922 HGNC:11605 TCTN2 gene TCTN2 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Familial Neural Tube Defects BIALLELIC, autosomal or pseudoautosomal Meckel Syndrome False 1 0;0;0 1.11 False ENSG00000168778 ENSG00000168778 HGNC:25774 TGIF1 gene TGIF1 Illumina TruGenome Clinical Sequencing Services Familial Neural Tube Defects MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holoprosencephaly False 1 0;0;0 1.11 False ENSG00000177426 ENSG00000177426 HGNC:11776 TMEM216 gene TMEM216 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Familial Neural Tube Defects BIALLELIC, autosomal or pseudoautosomal Meckel Syndrome False 1 0;0;0 1.11 False ENSG00000187049 ENSG00000187049 HGNC:25018 TMEM231 gene TMEM231 Radboud University Medical Center, Nijmegen Familial Neural Tube Defects Meckel Syndrome False 1 0;0;0 1.11 False ENSG00000205084 ENSG00000205084 HGNC:37234 TMEM5 gene TMEM5 Other Familial Neural Tube Defects Muscular dystrophy-dystroglycanopathy False 1 0;0;0 1.11 False ENSG00000118600 ENSG00000118600 HGNC:13530 TMEM67 gene TMEM67 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Familial Neural Tube Defects BIALLELIC, autosomal or pseudoautosomal Meckel Syndrome False 1 0;0;0 1.11 False ENSG00000164953 ENSG00000164953 HGNC:28396 VANGL1 gene VANGL1 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Familial Neural Tube Defects MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Susceptibility to neural tube defects;Neural tube defects False 1 0;0;0 1.11 False ENSG00000173218 ENSG00000173218 HGNC:15512 VANGL2 gene VANGL2 Radboud University Medical Center, Nijmegen Familial Neural Tube Defects Neural tube defects False 1 0;0;0 1.11 False ENSG00000162738 ENSG00000162738 HGNC:15511 ZIC2 gene ZIC2 Expert Review Red;Other;Radboud University Medical Center, Nijmegen;UKGTN Familial Neural Tube Defects Holoprosencephaly 5;Holoprosencephaly False 1 0;0;0 1.11 False ENSG00000043355 ENSG00000043355 HGNC:12873