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 ALDH1A3 gene ALDH1A3 Expert Review Green;Radboud University Medical Center, Nijmegen Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Microphthalmia, isolated 8, 615113 False 3 100;0;0 1.56 True ENSG00000184254 ENSG00000184254 HGNC:409 BCOR gene BCOR Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen Anophthalmia or microphthalmia 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) Microphthalmia, syndromic 2, 300166 False 3 100;0;0 1.56 True ENSG00000183337 ENSG00000183337 HGNC:20893 BMP4 gene BMP4 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BMP4-Related Syndromic Microphthalmia;Microphthalmia, syndromic 6, 607932Orofacial cleft 11, 600625 False 3 100;0;0 1.56 True ENSG00000125378 ENSG00000125378 HGNC:1071 CAPN15 gene CAPN15 Expert Review Green;Literature Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Oculogastrointestinal neurodevelopmental syndrome, OMIM:619318;Microphthalmia, HP:0000568;Coloboma, HP:0000589 32885237;33410501 False 3 100;0;0 1.56 False ENSG00000103326 ENSG00000103326 HGNC:11182 COL4A1 gene COL4A1 Emory Genetics Laboratory;Expert Review Green Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 3 100;0;0 1.56 True ENSG00000187498 ENSG00000187498 HGNC:2202 FAT1 gene FAT1 Expert list;Expert Review Green Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal facial dysmorphism;colobomatous microphthalmia;ptosis;syndactyly with or without nephropathy 30862798;26905694;12724416 False 3 100;0;0 1.56 False ENSG00000083857 ENSG00000083857 HGNC:3595 FOXC1 gene FOXC1 Emory Genetics Laboratory;Expert Review Green Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 32720677 False 3 100;0;0 1.56 True ENSG00000054598 ENSG00000054598 HGNC:3800 FOXE3 gene FOXE3 Emory Genetics Laboratory;Expert Review Green Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256;Ocular anterior segment dysgenesis, HP:0007700 False 3 100;0;0 1.56 True ENSG00000186790 ENSG00000186790 HGNC:3808 FRAS1 gene FRAS1 Emory Genetics Laboratory;Expert Review Green Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal False 3 100;0;0 1.56 True ENSG00000138759 ENSG00000138759 HGNC:19185 FREM1 gene FREM1 Emory Genetics Laboratory;Expert Review Green Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal False 3 100;0;0 1.56 True ENSG00000164946 ENSG00000164946 HGNC:23399 FREM2 gene FREM2 Emory Genetics Laboratory;Expert Review Green Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal False 3 100;0;0 1.56 True ENSG00000150893 ENSG00000150893 HGNC:25396 GRIP1 gene GRIP1 Emory Genetics Laboratory;Expert Review Green Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal False 3 100;0;0 1.56 True ENSG00000155974 ENSG00000155974 HGNC:18708 HCCS gene HCCS Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen Anophthalmia or microphthalmia 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) Microphthalmia, syndromic 7, 309801 False 3 100;0;0 1.56 True ENSG00000004961 ENSG00000004961 HGNC:4837 KMT2D gene KMT2D Expert Review Green;Literature Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted microphthalmia;Kabuki syndrome 1, 147920 26049589;27530281 False 3 100;0;0 1.56 False ENSG00000167548 ENSG00000167548 HGNC:7133 MAB21L2 gene MAB21L2 Expert Review Green;Radboud University Medical Center, Nijmegen Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Microphthalmia, syndromic 14, 615877 False 3 100;0;0 1.56 True ENSG00000181541 ENSG00000181541 HGNC:6758 MFRP gene MFRP Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Microphthalmia, isolated 5, 611040;Isolated Microphthalmia False 3 0;0;100 1.56 True ENSG00000235718 ENSG00000235718 HGNC:18121 MYRF gene MYRF Expert Review Green;Literature Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Nanophthalmos;high hyperopia 31048900, 31172260, 31700225 False 3 100;0;0 1.56 False ENSG00000124920 ENSG00000124920 HGNC:1181 OTX2 gene OTX2 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown OTX2-Related Syndromic Microphthalmia;Microphthalmia, syndromic 5, 610125;severe, bilateral cases False 3 100;0;0 1.56 True ENSG00000165588 ENSG00000165588 HGNC:8522 PAX2 gene PAX2 Expert list;Expert Review Green Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 120330 22213154;10533062 False 3 100;0;0 1.56 False ENSG00000075891 ENSG00000075891 HGNC:8616 PAX6 gene PAX6 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Anophthalmia False 3 100;0;0 1.56 True ENSG00000007372 ENSG00000007372 HGNC:8620 PITX2 gene PITX2 Emory Genetics Laboratory;Expert Review Green Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 3 100;0;0 1.56 True ENSG00000164093 ENSG00000164093 HGNC:9005 PRSS56 gene PRSS56 Expert Review Green;Radboud University Medical Center, Nijmegen Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Microphthalmia, isolated 6, 613517 False 3 100;0;0 1.56 True ENSG00000237412 ENSG00000237412 HGNC:39433 RAB18 gene RAB18 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Warburg Micro Syndrome;Warburg micro syndrome 3, 614222 False 3 100;0;0 1.56 True ENSG00000099246 ENSG00000099246 HGNC:14244 RAB3GAP1 gene RAB3GAP1 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Warburg Micro Syndrome;Warburg micro syndrome 1, 600118 False 3 100;0;0 1.56 True ENSG00000115839 ENSG00000115839 HGNC:17063 RAB3GAP2 gene RAB3GAP2 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Martsolf syndrome 1, OMIM:212720;Warburg micro syndrome 2, OMIM:614225 False 3 100;0;0 1.56 True ENSG00000118873 ENSG00000118873 HGNC:17168 RARB gene RARB Expert Review Green;Radboud University Medical Center, Nijmegen Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Microphthalmia, syndromic 12, 615524 False 3 100;0;0 1.56 True ENSG00000077092 ENSG00000077092 HGNC:9865 RAX gene RAX Expert Review Green;Illumina TruGenome Clinical Sequencing Services Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Microphthalmia, isolated 3, OMIM:611038;isolated microphthalmia 3, MONDO:0012604 30811539;18783408;14662654 False 3 100;0;0 1.56 True ENSG00000134438 ENSG00000134438 HGNC:18662 SHH gene SHH Expert Review Green;Radboud University Medical Center, Nijmegen Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holoprosencephaly-3, 142945Single median maxillary central incisor, 147250Microphthalmia with coloboma 5, 611638Schizencephaly, 269160 False 3 100;0;0 1.56 True ENSG00000164690 ENSG00000164690 HGNC:10848 SIX6 gene SIX6 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Optic disc anomalies with retinal and/or macular dystrophy, OMIM:212550 False 3 100;0;0 1.56 True ENSG00000184302 ENSG00000184302 HGNC:10892 SMO gene SMO Expert Review Green;Literature Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Curry-Jones syndrome, somatic mosaic 601707 27236920 False 3 100;0;0 1.56 False ENSG00000128602 ENSG00000128602 HGNC:11119 SMOC1 gene SMOC1 Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Microphthalmia with limb anomalies, 206920 False 3 100;0;0 1.56 True ENSG00000198732 ENSG00000198732 HGNC:20318 SOX2 gene SOX2 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microphthalmia, syndromic 3, 206900Optic nerve hypoplasia and abnormalities of the central nervous system, 206900;severe, bilateral cases False 3 100;0;0 1.56 True ENSG00000181449 ENSG00000181449 HGNC:11195 STRA6 gene STRA6 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Syndromic Microphthalmia, Recessive;Microphthalmia, syndromic 9, 601186Microphthalmia, isolated, with coloboma 8, 601186 False 3 100;0;0 1.56 True ENSG00000137868 ENSG00000137868 HGNC:30650 TBC1D20 gene TBC1D20 Expert Review Green;Radboud University Medical Center, Nijmegen Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 4, 615663 False 3 100;0;0 1.56 True ENSG00000125875 ENSG00000125875 HGNC:16133 TENM3 gene TENM3 Expert Review Green;Radboud University Medical Center, Nijmegen Anophthalmia or microphthalmia 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 1.56 False ENSG00000218336 ENSG00000218336 HGNC:29944 TMEM98 gene TMEM98 Expert Review Green;Literature Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Nanophthalmos 4, OMIM:615972;Nanophthalmos 4, MONDO:0014426 24852644;26392740 False 3 100;0;0 1.56 False ENSG00000006042 ENSG00000006042 HGNC:24529 VSX2 gene VSX2 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Microphthalmia, isolated 2, OMIM:610093;Microphthalmia/coloboma 3, OMIM:610092 False 3 100;0;0 1.56 True ENSG00000119614 ENSG00000119614 HGNC:1975 C16orf62 gene C16orf62 Expert Review Amber;Literature Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal 3C/Ritscher-Schinzel-like syndrome 31712251 False 2 0;100;0 1.56 False ENSG00000103544 ENSG00000103544 HGNC:24641 PLK4 gene PLK4 Expert Review Amber;Literature Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM:616171;microcephaly and chorioretinopathy 2, MONDO:0014516 25344692;25320347;27650967 False 2 0;100;0 1.56 False ENSG00000142731 ENSG00000142731 HGNC:11397 TUBGCP4 gene TUBGCP4 Expert Review Amber;Literature Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 25817018 False 2 0;0;0 1.56 False ENSG00000137822 ENSG00000137822 HGNC:16691 ABCB6 gene ABCB6 Radboud University Medical Center, Nijmegen Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders Microphthalmia, isolated, with coloboma 7, 614497 False 1 0;0;100 1.56 False ENSG00000115657 ENSG00000115657 HGNC:47 B3GLCT gene B3GLCT Emory Genetics Laboratory Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders False 1 0;0;100 1.56 False ENSG00000187676 ENSG00000187676 HGNC:20207 BMPR1A gene BMPR1A UKGTN Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders False 1 0;0;100 1.56 False ENSG00000107779 ENSG00000107779 HGNC:1076 CYP1B1 gene CYP1B1 Emory Genetics Laboratory Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders False 1 0;0;100 1.56 False ENSG00000138061 ENSG00000138061 HGNC:2597 DDB1 gene DDB1 UKGTN Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders False 1 0;0;100 1.56 False ENSG00000167986 ENSG00000167986 HGNC:2717 DDB2 gene DDB2 UKGTN Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders False 1 0;0;100 1.56 False ENSG00000134574 ENSG00000134574 HGNC:2718 ERCC1 gene ERCC1 Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cerebrooculofacioskeletal syndrome 4, OMIM:610758 False 1 0;0;100 1.56 True ENSG00000012061 ENSG00000012061 HGNC:3433 ERCC2 gene ERCC2 Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders Xeroderma pigmentosum, group D, 278730Trichothiodystrophy, 601675Cerebrooculofacioskeletal syndrome 2, 610756 False 1 0;0;100 1.56 True ENSG00000104884 ENSG00000104884 HGNC:3434 ERCC3 gene ERCC3 UKGTN Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders False 1 0;0;100 1.56 False ENSG00000163161 ENSG00000163161 HGNC:3435 ERCC4 gene ERCC4 UKGTN Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders False 1 0;0;100 1.56 False ENSG00000175595 ENSG00000175595 HGNC:3436 ERCC5 gene ERCC5 UKGTN Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders False 1 0;0;100 1.56 False ENSG00000134899 ENSG00000134899 HGNC:3437 ERCC6 gene ERCC6 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cerebrooculofacioskeletal Syndrome;Cockayne syndrome, type B, 133540Cerebrooculofacioskeletal syndrome 1, 214150De Sanctis-Cacchione syndrome, 278800{Macular degeneration, age-related, susceptibility to 5}, 613761UV-sensitive syndrome 1, 600630{Lung cancer, susceptibility to}, 211980 False 1 0;0;100 1.56 True ENSG00000225830 ENSG00000225830 HGNC:3438 ERCC8 gene ERCC8 UKGTN Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders False 1 0;0;100 1.56 False ENSG00000049167 ENSG00000049167 HGNC:3439 GDF3 gene GDF3 Radboud University Medical Center, Nijmegen Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Klippel-Feil syndrome 3, autosomal dominant, 613702 False 1 0;0;100 1.56 False ENSG00000184344 ENSG00000184344 HGNC:4218 GDF6 gene GDF6 Radboud University Medical Center, Nijmegen Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders Klippel-Feil syndrome 1, autosomal dominant, 118100 False 1 0;0;100 1.56 False ENSG00000156466 ENSG00000156466 HGNC:4221 GTF2H5 gene GTF2H5 UKGTN Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders False 1 0;0;100 1.56 False ENSG00000272047 ENSG00000272047 HGNC:21157 HDAC6 gene HDAC6 Radboud University Medical Center, Nijmegen Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, andmicrophthalmia, 300863 False 1 0;0;0 1.56 False ENSG00000094631 ENSG00000094631 HGNC:14064 MPLKIP gene MPLKIP UKGTN Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders False 1 0;0;100 1.56 False ENSG00000168303 ENSG00000168303 HGNC:16002 PITX3 gene PITX3 Emory Genetics Laboratory Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders False 1 0;0;100 1.56 False ENSG00000107859 ENSG00000107859 HGNC:9006 POLH gene POLH UKGTN Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders False 1 0;0;100 1.56 False ENSG00000170734 ENSG00000170734 HGNC:9181 VAX1 gene VAX1 Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders Microphthalmia, syndromic 11, 614402 False 1 0;0;100 1.56 True ENSG00000148704 ENSG00000148704 HGNC:12660 XPA gene XPA UKGTN Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders False 1 0;0;100 1.56 False ENSG00000136936 ENSG00000136936 HGNC:12814 XPC gene XPC UKGTN Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders False 1 0;0;100 1.56 False ENSG00000154767 ENSG00000154767 HGNC:12816