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 ACTB gene ACTB Expert Review Green;Literature;Radboud University Medical Center, Nijmegen;UKGTN Ocular coloboma Ocular malformations Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Baraitser-Winter syndrome 1, 243310 2505231 False 3 100;0;0 1.51 False ENSG00000075624 ENSG00000075624 HGNC:132 ACTG1 gene ACTG1 Expert Review Green;Literature;Radboud University Medical Center, Nijmegen;UKGTN Ocular coloboma Ocular malformations Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Baraitser-Winter syndrome 2, 614583 22366783 False 3 100;0;0 1.51 False ENSG00000184009 ENSG00000184009 HGNC:144 ALDH1A3 gene ALDH1A3 Expert Review Green;Literature;Radboud University Medical Center, Nijmegen Ocular coloboma Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Microphthalmia, isolated 8 615113 23591992;24859618 False 3 100;0;0 1.51 False ENSG00000184254 ENSG00000184254 HGNC:409 B3GLCT gene B3GLCT Expert Review;Expert Review Green Ocular coloboma Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Peters-plus syndrome, 261540 16909395 False 3 100;0;0 1.51 False ENSG00000187676 ENSG00000187676 HGNC:20207 BMP4 gene BMP4 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Ocular coloboma Ocular malformations Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microphthalmia, syndromic 6, 607932 18252212, 2427285 False 3 50;0;50 1.51 False ENSG00000125378 ENSG00000125378 HGNC:1071 C12orf57 gene C12orf57 Expert Review Green;Literature;Radboud University Medical Center, Nijmegen Ocular coloboma Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Temtamy syndrome, 218340 23453665, 24859618 False 3 0;0;0 1.51 False ENSG00000111678 ENSG00000111678 HGNC:29521 CC2D2A gene CC2D2A Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Ocular coloboma Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal COACH syndrome, 216360 19574260 False 3 100;0;0 1.51 False ENSG00000048342 ENSG00000048342 HGNC:29253 CHD7 gene CHD7 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Ocular coloboma Ocular malformations Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CHARGE syndrome, 214800 16400610 False 3 100;0;0 1.51 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000171316 ENSG00000171316 HGNC:20626 CLDN19 gene CLDN19 Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Ocular coloboma Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Hypomagnesemia 5, renal, with ocular involvement, 248190 17033971, 500385 False 3 0;0;0 1.51 False ENSG00000164007 ENSG00000164007 HGNC:2040 FOXE3 gene FOXE3 Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen Ocular coloboma Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Anterior segment mesenchymal dysgenesis 107250 24859618, 19708017 False 3 0;0;0 1.51 False ENSG00000186790 ENSG00000186790 HGNC:3808 FZD5 gene FZD5 Expert Review Green;Literature Ocular coloboma Ocular malformations Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microphthalmia/coloboma 11, OMIM:620731 32737437;26908622 False 3 100;0;0 1.51 False ENSG00000163251 ENSG00000163251 HGNC:4043 HCCS gene HCCS Emory Genetics Laboratory;Expert Review Green;Literature;Radboud University Medical Center, Nijmegen Ocular coloboma Ocular malformations Ophthalmological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Linear skin defects with multiple congenital anomalies 1, 309801 17033964, 24859618 False 3 100;0;0 1.51 False ENSG00000004961 ENSG00000004961 HGNC:4837 HMX1 gene HMX1 Expert Review Green;Literature;Radboud University Medical Center, Nijmegen;UKGTN Ocular coloboma Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Oculoauricular syndrome 612109 18423520;25574057;21417677;29140751 False 3 0;100;0 1.51 False ENSG00000215612 ENSG00000215612 HGNC:5017 LRP2 gene LRP2 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen Ocular coloboma Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Donnai-Barrow syndrome, 222448 17632512;8266995;18553518 False 3 0;0;0 1.51 False ENSG00000081479 ENSG00000081479 HGNC:6694 MAB21L2 gene MAB21L2 Expert Review Green;Literature Ocular coloboma Ocular malformations Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Microphthalmia, syndromic 14 615877 PMID: 25719200;PMID: 24906020 False 3 50;0;50 1.51 False ENSG00000181541 ENSG00000181541 HGNC:6758 OTX2 gene OTX2 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen Ocular coloboma Ocular malformations Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microphthalmia, syndromic 5, 610125 15846561, 18781617,24859618 False 3 100;0;0 1.51 False ENSG00000165588 ENSG00000165588 HGNC:8522 PAX2 gene PAX2 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Ocular coloboma Ocular malformations Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Papillorenal syndrome 120330 8589702 False 3 100;0;0 1.51 False ENSG00000075891 ENSG00000075891 HGNC:8616 PAX6 gene PAX6 Expert Review Green;Literature;Radboud University Medical Center, Nijmegen Ocular coloboma Ocular malformations Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Morning glory disc anomaly, 120430Aniridia, 106210Cataract with late-onset corneal dystrohpy, 106210Coloboma of optic nerve, 120430Coloboma, ocular, 120200Foveal hypoplasia 1, 136520Gillespie syndrome, 206700Keratitis, 148190Optic nerve hypoplasia, 165550Peters anomaly, 604229 12721955, 24859618 False 3 100;0;0 1.51 False ENSG00000007372 ENSG00000007372 HGNC:8620 PORCN gene PORCN Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen Ocular coloboma Ocular malformations Ophthalmological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Focal dermal hypoplasia 305600 17546030, 24859618 False 3 100;0;0 1.51 False ENSG00000102312 ENSG00000102312 HGNC:17652 PUF60 gene PUF60 Expert Review;Expert Review Green Ocular coloboma Ocular malformations Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Verheij syndrome, 615583;VRJS;Chromosome 8q24.3 deletion syndrome;PUF60 syndrome;ocular abnormalities 28327570;27804958;24140112;19464398 False 3 100;0;0 1.51 False ENSG00000179950 ENSG00000179950 HGNC:17042 RARB gene RARB Expert Review Green;Literature;Radboud University Medical Center, Nijmegen Ocular coloboma Ocular malformations Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Microphthalmia, syndromic 12 615524 24859618 False 3 0;0;100 1.51 False ENSG00000077092 ENSG00000077092 HGNC:9865 RPGRIP1L gene RPGRIP1L Emory Genetics Laboratory;Expert Review Green;Literature;Radboud University Medical Center, Nijmegen;UKGTN Ocular coloboma Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal COACH syndrome, 216360 19574260 False 3 100;0;0 1.51 False ENSG00000103494 ENSG00000103494 HGNC:29168 SALL4 gene SALL4 Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Ocular coloboma Ocular malformations Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Duane-radial ray syndrome, 607323 12843316, 6426304 False 3 100;0;0 1.51 False ENSG00000101115 ENSG00000101115 HGNC:15924 SMO gene SMO Expert Review Green;Literature Ocular coloboma Ocular malformations Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Curry-Jones syndrome, somatic mosaic 601707 27236920 False 3 0;0;100 1.51 False ENSG00000128602 ENSG00000128602 HGNC:11119 SOX2 gene SOX2 Emory Genetics Laboratory;Expert Review Green;Literature;Radboud University Medical Center, Nijmegen;UKGTN Ocular coloboma Ocular malformations Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microphthalmia, syndromic 3 206900 12612584, 24859618 False 3 100;0;0 1.51 False ENSG00000181449 ENSG00000181449 HGNC:11195 STRA6 gene STRA6 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen Ocular coloboma Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Microphthalmia, syndromic 9, 601186Microphthalmia, isolated, with coloboma 8, 601186 17273977, 24859618 False 3 100;0;0 1.51 False ENSG00000137868 ENSG00000137868 HGNC:30650 TENM3 gene TENM3 Expert Review Green;Literature;Radboud University Medical Center, Nijmegen Ocular coloboma Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Microphthalmia, syndromic 15, OMIM:615145;?Microphthalmia, isolated, with coloboma 9, OMIM:615145;Microphthalmia, isolated, with coloboma 9, MONDO:0014059 22766609;27103084;30513139;29753094 False 3 50;0;50 1.51 False ENSG00000218336 ENSG00000218336 HGNC:29944 VSX2 gene VSX2 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Ocular coloboma Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Microphthalmia/coloboma 3, OMIM:610092 10932181, 24859618 False 3 100;0;0 1.51 False ENSG00000119614 ENSG00000119614 HGNC:1975 YAP1 gene YAP1 Expert Review Green;Radboud University Medical Center, Nijmegen Ocular coloboma Ocular malformations Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coloboma, ocular, 120433;Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mentalretardation, 120433;isolated ocular coloboma 24462371;26209646;27267789 False 3 50;0;50 1.51 False ENSG00000137693 ENSG00000137693 HGNC:16262 C16orf62 gene C16orf62 Expert Review Amber;Literature Ocular coloboma Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal 3C/Ritscher-Schinzel-like syndrome 31712251 False 2 0;100;0 1.51 False ENSG00000103544 ENSG00000103544 HGNC:24641 IGBP1 gene IGBP1 Emory Genetics Laboratory;Literature;Radboud University Medical Center, Nijmegen Ocular coloboma Ocular malformations Ophthalmological disorders Corpus callosum, agenesis of, with mental retardation, ocular coloboma andmicrognathia, 300472 False 2 0;0;100 1.51 False ENSG00000089289 ENSG00000089289 HGNC:5461 MAF gene MAF Literature;Radboud University Medical Center, Nijmegen;UKGTN Ocular coloboma Ocular malformations Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract 21, multiple types 610202 11772997 False 2 100;0;0 1.51 False ENSG00000178573 ENSG00000178573 HGNC:6776 PIGL gene PIGL Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Ocular coloboma Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,Mental Retardation, and Ear Anomalies Syndrome;CHIME syndrome, 280000 22444671 False 2 0;100;0 1.51 False ENSG00000108474 ENSG00000108474 HGNC:8966 RBP4 gene RBP4 Emory Genetics Laboratory;Literature;Radboud University Medical Center, Nijmegen Ocular coloboma Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, 615147 9888420 False 2 0;0;100 1.51 False ENSG00000138207 ENSG00000138207 HGNC:9922 SIX6 gene SIX6 Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen Ocular coloboma Ocular malformations Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Optic disc anomalies with retinal and/or macular dystrophy, 212550 23167593, 24702266 False 2 0;0;100 1.51 False ENSG00000184302 ENSG00000184302 HGNC:10892 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 ISCA-37393-Gain region Expert Review Green;ClinGen Ocular coloboma Ocular malformations Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PMID 22890013: variable phenotype including developmental delay, ocular coloboma, preauricular tags/pits, cleft palate, skeletal defects, heart defects, urogenital defect, anal defect, hearing loss, clinodactyly of fifth fingers, umbilical hernia, accessory spleen, strabismus, shortening of the fifth finger. PMID 22495764: Inter and intra individual variability of phenotype, mosaic. PMID 11693792: preauricular skin tags and pits, downslanting palpebral fissures, hypertelorism, ectopic anus, hypospadias, and hypoplastic left heart syndrome;115470 11693792;22890013;22495764 False 3 0;0;0 1.51 False 22 16912063 18109094 3 60 cnv_gain 22q11.21 recurrent (Cat eye syndrome) region (includes CECR2) Gain ISCA-37396-Loss region Expert Review Green;Expert list Ocular coloboma Ocular malformations Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Chromosome 15q24 deletion syndrome, 613406;PMID: 22180641 intellectual disability, growth retardation, unusual facial morphology;developmental delay, severe speech problems;PMID:19557438 Developmental delay, short stature, hypotonia, digital abnormalities, joint laxity, genital abnormalities, characteristic facial features;PMID:614294 Developmental delay, loose connective tissue, digital and genital anomalies, distinct facial gestalt, congenital diaphragmatic hernia 22180641;19557438;19233321 False 3 100;0;0 1.51 False 15 72671374 75680568 3 60 cnv_loss 15q24 recurrent region (A-D) (includes SIN3A) Loss