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 ABCB6 gene ABCB6 Radboud University Medical Center, Nijmegen Ocular coloboma Ocular malformations Ophthalmological disorders Microphthalmia, isolated, with coloboma 7, 614497[Blood group, Langereis system], 111600Dyschromatosis universalis hereditaria 3, 615402 False 1 0;100;0 1.51 False ENSG00000115657 ENSG00000115657 HGNC:47 AHI1 gene AHI1 Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Other;Radboud University Medical Center, Nijmegen;UKGTN Ocular coloboma Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome-3 False 1 100;0;0 1.51 False ENSG00000135541 ENSG00000135541 HGNC:21575 ARL13B gene ARL13B Emory Genetics Laboratory;Expert Review;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Ocular coloboma Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 8 18674751; 25138100 False 1 100;0;0 1.51 False ENSG00000169379 ENSG00000169379 HGNC:25419 BMP7 gene BMP7 Literature Ocular coloboma Ocular malformations Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 20506283 False 1 0;0;100 1.51 False ENSG00000101144 ENSG00000101144 HGNC:1074 C5orf42 gene C5orf42 Emory Genetics Laboratory;Expert Review;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Ocular coloboma Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome; Oral-facial-digital syndrome type VI 22693042; 22425360; 25920555 False 1 100;0;0 1.51 False ENSG00000197603 ENSG00000197603 HGNC:25801 CEP290 gene CEP290 Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Other;Radboud University Medical Center, Nijmegen;UKGTN Ocular coloboma Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 5 False 1 100;0;0 1.51 False ENSG00000198707 ENSG00000198707 HGNC:29021 CEP41 gene CEP41 Emory Genetics Laboratory;Expert Review;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Ocular coloboma Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 22246503 False 1 100;0;0 1.51 False ENSG00000106477 ENSG00000106477 HGNC:12370 GDF3 gene GDF3 Radboud University Medical Center, Nijmegen Ocular coloboma Ocular malformations Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Klippel-Feil syndrome 3, autosomal dominant, 613702 19864492;24859618 False 1 0;100;0 1.51 False ENSG00000184344 ENSG00000184344 HGNC:4218 GDF6 gene GDF6 Radboud University Medical Center, Nijmegen Ocular coloboma Ocular malformations Ophthalmological disorders Klippel-Feil syndrome 1, autosomal dominant, 118100 False 1 0;100;0 1.51 False ENSG00000156466 ENSG00000156466 HGNC:4221 HMGB3 gene HMGB3 Literature Ocular coloboma Ocular malformations Ophthalmological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Microphthalmia, syndromic 13, 300915 4998085 False 1 0;0;100 1.51 False ENSG00000029993 ENSG00000029993 HGNC:5004 INPP5E gene INPP5E Expert Review;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Ocular coloboma Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 23386033; 26748598 False 1 100;0;0 1.51 False ENSG00000148384 ENSG00000148384 HGNC:21474 KIF7 gene KIF7 Emory Genetics Laboratory;Expert Review;Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Ocular coloboma Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome; Acrocallosal syndrome 21633164 False 1 100;0;0 1.51 False ENSG00000166813 ENSG00000166813 HGNC:30497 MIR204 gene MIR204 Literature Ocular coloboma Ocular malformations Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinal dystrophy and iris coloboma with or without cataract 616722 26056285 False 1 0;0;100 1.51 False ENSG00000207935 ENSG00000207935 HGNC:31582 NAA10 gene NAA10 Literature Ocular coloboma Ocular malformations Ophthalmological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Microphthalmia, syndromic 1, 309800 24431331, 20301694 False 1 0;0;0 1.51 False ENSG00000102030 ENSG00000102030 HGNC:18704 NPHP1 gene NPHP1 Emory Genetics Laboratory;Expert Review;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Ocular coloboma Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome, Nephronophthisis 15138899; 15689444; 22982934 False 1 100;0;0 1.51 False ENSG00000144061 ENSG00000144061 HGNC:7905 OFD1 gene OFD1 Emory Genetics Laboratory;Expert Review;Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Ocular coloboma Ocular malformations Ophthalmological disorders Other - please specifiy in evaluation comments X-linked Joubert syndrome; Oral-facial-digital syndrome I 22353940; 19800048 False 1 100;0;0 1.51 False ENSG00000046651 ENSG00000046651 HGNC:2567 SALL2 gene SALL2 Literature Ocular coloboma Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Coloboma, ocular, autosomal recessive 216820 24412933 False 1 0;0;100 1.51 False ENSG00000165821 ENSG00000165821 HGNC:10526 SHH gene SHH Radboud University Medical Center, Nijmegen Ocular coloboma Ocular malformations Ophthalmological disorders Holoprosencephaly-3, 142945Single median maxillary central incisor, 147250Microphthalmia with coloboma 5, 611638Schizencephaly, 269160 False 1 0;0;100 1.51 False ENSG00000164690 ENSG00000164690 HGNC:10848 SIX3 gene SIX3 Literature Ocular coloboma Ocular malformations Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holoprosencephaly 2 157170 17001667;19353631;19346217;21976454;28670735 False 1 0;0;100 1.51 False ENSG00000138083 ENSG00000138083 HGNC:10889 SPINT2 gene SPINT2 Expert Review Red;Literature Ocular coloboma Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Diarrhea 3, secretory sodium, congenital, syndromic, 270420;optic nerve coloboma;congenital sodium diarrhea with additional features 29575628;24142340 False 1 0;0;0 1.51 False ENSG00000167642 ENSG00000167642 HGNC:11247 TCTN1 gene TCTN1 Emory Genetics Laboratory;Expert Review;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Ocular coloboma Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 21725307; 22693042 False 1 100;0;0 1.51 False ENSG00000204852 ENSG00000204852 HGNC:26113 TCTN2 gene TCTN2 Emory Genetics Laboratory;Expert Review;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;UKGTN Ocular coloboma Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome; Meckel-Gruber syndrome 25118024; 21565611 False 1 100;0;0 1.51 False ENSG00000168778 ENSG00000168778 HGNC:25774 TCTN3 gene TCTN3 Emory Genetics Laboratory;Expert Review;Expert Review Red;Radboud University Medical Center, Nijmegen Ocular coloboma Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome; Orofaciodigital syndrome IV 25118024 False 1 100;0;0 1.51 False ENSG00000119977 ENSG00000119977 HGNC:24519 TFAP2A gene TFAP2A Literature;Radboud University Medical Center, Nijmegen Ocular coloboma Ocular malformations Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Branchiooculofacial syndrome , 113620 10767004, 18423521 False 1 100;0;0 1.51 False ENSG00000137203 ENSG00000137203 HGNC:11742 TMEM138 gene TMEM138 Expert Review;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Ocular coloboma Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 22282472 False 1 100;0;0 1.51 False ENSG00000149483 ENSG00000149483 HGNC:26944 TMEM216 gene TMEM216 Emory Genetics Laboratory;Expert Review;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Ocular coloboma Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome; Meckel-Gruber syndrome 22282472; 20036350; 20512146 False 1 100;0;0 1.51 False ENSG00000187049 ENSG00000187049 HGNC:25018 TMEM231 gene TMEM231 Expert Review;Expert Review Red;Radboud University Medical Center, Nijmegen Ocular coloboma Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome; Meckel-Gruber syndrome 23012439; 23349226 False 1 0;0;0 1.51 False ENSG00000205084 ENSG00000205084 HGNC:37234 TMEM237 gene TMEM237 Emory Genetics Laboratory;Expert Review;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Ocular coloboma Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 22152675 False 1 100;0;0 1.51 False ENSG00000155755 ENSG00000155755 HGNC:14432 TMEM67 gene TMEM67 Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Other;Radboud University Medical Center, Nijmegen;UKGTN Ocular coloboma Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal COACH syndrome, 216360 ;Joubert syndrome 6 19058225 False 1 100;0;0 1.51 False ENSG00000164953 ENSG00000164953 HGNC:28396