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 list;Expert Review Green Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Baraitser-Winter syndrome 1, MIM#243310 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 False 3 100;0;0 1.43 True ENSG00000075624 ENSG00000075624 HGNC:132 ACTG1 gene ACTG1 Expert list;Expert Review Green Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Baraitser-Winter syndrome 2, MIM#614583 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 False 3 100;0;0 1.43 True ENSG00000184009 ENSG00000184009 HGNC:144 ALDH1A3 gene ALDH1A3 Expert Review Green;Victorian Clinical Genetics Services Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Microphthalmia, isolated 8, MIM# 615113 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 23312594;23591992;30200890;28890889;26873617;24777706 False 3 100;0;0 1.43 True ENSG00000184254 ENSG00000184254 HGNC:409 ARHGAP35 gene ARHGAP35 Expert Review Green;Literature Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental defect of the eye (MONDO:0020145), ARHGAP35-related Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 PMID: 36450800 False 3 0;0;0 1.43 True ENSG00000160007 ENSG00000160007 HGNC:4591 ASXL1 gene ASXL1 Expert Review Green;Victorian Clinical Genetics Services Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bohring-Opitz syndrome , MIM#605039 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 29446906 False 3 100;0;0 1.43 True ENSG00000171456 ENSG00000171456 HGNC:18318 B3GLCT gene B3GLCT Expert list;Expert Review Green Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Peters-plus syndrome, MIM#261540 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 False 3 100;0;0 1.43 True ENSG00000187676 ENSG00000187676 HGNC:20207 BCOR gene BCOR Expert Review Green;Victorian Clinical Genetics Services Anophthalmia_Microphthalmia_Coloboma 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, MIM# 300166;Oculofaciocardiodental syndrome;Lenz microphthalmia Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 29974297 False 3 100;0;0 1.43 True ENSG00000183337 ENSG00000183337 HGNC:20893 BMP4 gene BMP4 Expert Review Green;Victorian Clinical Genetics Services Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microphthalmia, syndromic 6, MIM# 607932 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 21340693;31053785 False 3 100;0;0 1.43 True ENSG00000125378 ENSG00000125378 HGNC:1071 BMPR1B gene BMPR1B Expert Review Green;Literature Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted coloboma MONDO#0001476, BMPR1B-related Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 35034853 False 3 100;0;0 1.43 True ENSG00000138696 ENSG00000138696 HGNC:1077 C12orf57 gene C12orf57 Expert list;Expert Review Green Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Temtamy syndrome, MIM#218340 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 False 3 100;0;0 1.43 True ENSG00000111678 ENSG00000111678 HGNC:29521 CAPN15 gene CAPN15 Expert Review Green;Literature Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Oculogastrointestinal neurodevelopmental syndrome 619318;microphthalmia HP:0000568;coloboma HP:0000589" Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 32885237 False 3 100;0;0 1.43 True ENSG00000103326 ENSG00000103326 HGNC:11182 CC2D2A gene CC2D2A Expert list;Expert Review Green Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal COACH syndrome 2, MIM# 619111 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 False 3 100;0;0 1.43 True ENSG00000048342 ENSG00000048342 HGNC:29253 CDK5RAP2 gene CDK5RAP2 Expert Review Green;Literature Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Microcephaly 3, primary, autosomal recessive, MIM# 604804" Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 32015000 False 3 100;0;0 1.43 True ENSG00000136861 ENSG00000136861 HGNC:18672 CHD7 gene CHD7 Expert Review Green;Victorian Clinical Genetics Services Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CHARGE syndrome, MIM# 214800 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 False 3 100;0;0 1.43 True ENSG00000171316 ENSG00000171316 HGNC:20626 CLDN19 gene CLDN19 Expert list;Expert Review Green Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Hypomagnesemia 5, renal, with ocular involvement, MIM#248190 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 False 3 100;0;0 1.43 True ENSG00000164007 ENSG00000164007 HGNC:2040 COL4A1 gene COL4A1 Expert Review Green;Victorian Clinical Genetics Services Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brain small vessel disease with or without ocular anomalies, MIM#175780 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 24628545 False 3 100;0;0 1.43 True ENSG00000187498 ENSG00000187498 HGNC:2202 EPHA2 gene EPHA2 Expert Review;Expert Review Green Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal microphthalmia, MONDO:0021129, EPHA2-related Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 35918037 False 3 100;0;0 1.43 True ENSG00000142627 ENSG00000142627 HGNC:3386 FAM111A gene FAM111A Expert Review Green;Literature Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Kenny-Caffey syndrome, type 2, MIM@ 127000" Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 32996714;23684011 False 3 100;0;0 1.43 True ENSG00000166801 ENSG00000166801 HGNC:24725 FAT1 gene FAT1 Expert Review;Expert Review Green Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal facial dysmorphism;colobomatous microphthalmia;ptosis;syndactyly with or without nephropathy Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 30862798;26905694 False 3 100;0;0 1.43 True ENSG00000083857 ENSG00000083857 HGNC:3595 FBXW11 gene FBXW11 Expert Review Green;Literature Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental, eye, jaw, and digital syndrome (NDEJD), MIM#618914;Intellectual disability;developmental eye anomalies;digital anomalies Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 PMID: 31402090 False 3 100;0;0 1.43 True ENSG00000072803 ENSG00000072803 HGNC:13607 FOXE3 gene FOXE3 Expert Review Green;Victorian Clinical Genetics Services Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 27218149;21150893;31884615;29878917;29713869 False 3 100;0;0 1.43 True ENSG00000186790 ENSG00000186790 HGNC:3808 FZD5 gene FZD5 Expert Review Green;Literature Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microphthalmia/coloboma 11, MIM# 620731 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 32737437;26908622 False 3 100;0;0 1.43 True ENSG00000163251 ENSG00000163251 HGNC:4043 GJA1 gene GJA1 Expert Review Green;Victorian Clinical Genetics Services Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Oculodentodigital dysplasia, autosomal recessive, MIM# 257850;Oculodentodigital dysplasia, MIM# 164200 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 19338053 False 3 100;0;0 1.43 True ENSG00000152661 ENSG00000152661 HGNC:4274 GJA8 gene GJA8 Expert Review Green;Victorian Clinical Genetics Services Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract 1, multiple types, MIM# 116200;Microphthalmia Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 30498267;29464339 False 3 100;0;0 1.43 True ENSG00000121634 ENSG00000121634 HGNC:4281 HCCS gene HCCS Expert Review Green;Victorian Clinical Genetics Services Anophthalmia_Microphthalmia_Coloboma 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, MIM# 309801 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 17033964;30068298;24735900 False 3 100;0;0 1.43 True ENSG00000004961 ENSG00000004961 HGNC:4837 HMX1 gene HMX1 Expert list;Expert Review Green Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Oculoauricular syndrome, MIM#612109 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 False 3 100;0;0 1.43 True ENSG00000215612 ENSG00000215612 HGNC:5017 IKBKG gene IKBKG Expert Review Green;Victorian Clinical Genetics Services Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Incontinentia pigmenti, MIM# 308300 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 False 3 100;0;0 1.43 True ENSG00000073009 ENSG00000269335 HGNC:5961 LRP2 gene LRP2 Expert list;Expert Review Green Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Donnai-Barrow syndrome, MIM#222448 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 17632512 False 3 100;0;0 1.43 True ENSG00000081479 ENSG00000081479 HGNC:6694 MAB21L1 gene MAB21L1 Expert Review Green;Literature Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Cerebellar, ocular, craniofacial, and genital syndrome OMIM#618479" Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 30487245 False 3 100;0;0 1.43 True ENSG00000180660 ENSG00000180660 HGNC:6757 MAB21L2 gene MAB21L2 Expert Review Green;Victorian Clinical Genetics Services Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 24906020;25719200;31037784;30375740;30073347;26116559 False 3 100;0;0 1.43 True ENSG00000181541 ENSG00000181541 HGNC:6758 MFRP gene MFRP Expert Review Green;Victorian Clinical Genetics Services Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Microphthalmia, isolated 5, MIM# 611040 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 17167404;18554571;20361016 False 3 100;0;0 1.43 True ENSG00000235718 ENSG00000235718 HGNC:18121 MITF gene MITF Expert Review Green;Victorian Clinical Genetics Services Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal COMMAD syndrome, MIM# 617306 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 27889061;32541011 False 3 100;0;0 1.43 True ENSG00000187098 ENSG00000187098 HGNC:7105 MPDZ gene MPDZ Expert list;Expert Review Green Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Hydrocephalus, congenital, 2, with or without brain or eye anomalies, MIM# 615219 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 28556411;36429029;36594712 False 3 100;0;0 1.43 True ENSG00000107186 ENSG00000107186 HGNC:7208 MYRF gene MYRF Expert list;Expert Review Green Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nanophthalmos;High hyperopia Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 31048900;31172260;31266062;31700225 False 3 100;0;0 1.43 True ENSG00000124920 ENSG00000124920 HGNC:1181 NAA10 gene NAA10 Expert Review Green;Victorian Clinical Genetics Services Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Microphthalmia, syndromic 1, MIM# 309800 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 30842225;24431331 False 3 100;0;0 1.43 True ENSG00000102030 ENSG00000102030 HGNC:18704 NDP gene NDP Expert Review Green;Victorian Clinical Genetics Services Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Norrie disease, MIM# 310600 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 False 3 100;0;0 1.43 True ENSG00000124479 ENSG00000124479 HGNC:7678 NHS gene NHS Expert Review Green;Victorian Clinical Genetics Services Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Nance-Horan syndrome, MIM# 302350 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 False 3 100;0;0 1.43 True ENSG00000188158 ENSG00000188158 HGNC:7820 NR6A1 gene NR6A1 Expert Review Green;Literature Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Craniofacial microsomia MONDO:0015397 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 39606382 False 3 100;0;0 1.43 True ENSG00000148200 ENSG00000148200 HGNC:7985 OCRL gene OCRL Expert Review Green;Victorian Clinical Genetics Services Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Lowe syndrome, MIM# 309000 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 False 3 100;0;0 1.43 True ENSG00000122126 ENSG00000122126 HGNC:8108 OTX2 gene OTX2 Expert Review Green;Victorian Clinical Genetics Services Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microphthalmia, syndromic 5, MIM# 610125 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 24859618 False 3 100;0;0 1.43 True ENSG00000165588 ENSG00000165588 HGNC:8522 PACS1 gene PACS1 Expert Review Green;Literature Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Schuurs-Hoeijmakers syndrome, MIM# 615009" Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 32672908 False 3 100;0;0 1.43 True ENSG00000175115 ENSG00000175115 HGNC:30032 PAX2 gene PAX2 Expert Review Green;Victorian Clinical Genetics Services Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Papillorenal syndrome, MIM# 120330;Renal coloboma syndrome, MONDO:0007352 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 21654726 False 3 100;0;0 1.43 True ENSG00000075891 ENSG00000075891 HGNC:8616 PAX6 gene PAX6 Expert Review Green;Victorian Clinical Genetics Services Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microphthalmia;Coloboma, ocular, MIM# 120200 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 31700164;30986449;29930474;22171686 False 3 100;0;0 1.43 True ENSG00000007372 ENSG00000007372 HGNC:8620 PIGL gene PIGL Expert Review;Expert Review Green Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal CHIME syndrome, MIM# 280000, MONDO:0010221 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 22444671;31535386;30023290;29473937;28371479;25706356 False 3 100;0;0 1.43 True ENSG00000108474 ENSG00000108474 HGNC:8966 PITX3 gene PITX3 Expert Review Green;Victorian Clinical Genetics Services Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250;Cataract 11, multiple types, MIM# 610623;Microphthalmia Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 29405783 False 3 100;0;0 1.43 True ENSG00000107859 ENSG00000107859 HGNC:9006 POMT1 gene POMT1 Expert Review Green;Victorian Clinical Genetics Services Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670;Walker-Walburg syndrome Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 False 3 100;0;0 1.43 True ENSG00000130714 ENSG00000130714 HGNC:9202 PORCN gene PORCN Expert list;Expert Review Green Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders Other Focal dermal hypoplasia, MIM#305600 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 False 3 100;0;0 1.43 True ENSG00000102312 ENSG00000102312 HGNC:17652 PRR12 gene PRR12 Expert Review Green;Victorian Clinical Genetics Services Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuroocular syndrome, MIM#619539;Complex microphthalmia Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 33314030;29556724 False 3 100;0;0 1.43 True ENSG00000126464 ENSG00000126464 HGNC:29217 PRSS56 gene PRSS56 Expert Review Green;Victorian Clinical Genetics Services Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Microphthalmia, isolated 6, MIM# 613517 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 21532570;23127749;31992737 False 3 100;0;0 1.43 True ENSG00000237412 ENSG00000237412 HGNC:39433 PUF60 gene PUF60 Expert list;Expert Review Green Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Verheij syndrome, MIM#615583 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 False 3 100;0;0 1.43 True ENSG00000179950 ENSG00000179950 HGNC:17042 PXDN gene PXDN Expert Review Green;Victorian Clinical Genetics Services Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Anterior segment dysgenesis 7, with sclerocornea, MIM# 269400 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 21907015;24939590;32499604;32224865;32015378;31817535 False 3 100;0;0 1.43 True ENSG00000130508 ENSG00000130508 HGNC:14966 RAB18 gene RAB18 Expert Review Green;Victorian Clinical Genetics Services Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 3, MIM# 614222 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 11237903;23420520 False 3 100;0;0 1.43 True ENSG00000099246 ENSG00000099246 HGNC:14244 RAB3GAP1 gene RAB3GAP1 Expert Review Green;Victorian Clinical Genetics Services Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 1, MIM# 600118 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 15696165;20512159;23420520 False 3 100;0;0 1.43 True ENSG00000115839 ENSG00000115839 HGNC:17063 RAB3GAP2 gene RAB3GAP2 Expert Review Green;Victorian Clinical Genetics Services Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 2, MIM# 614225 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 23420520;20967465 False 3 100;0;0 1.43 True ENSG00000118873 ENSG00000118873 HGNC:17168 RARB gene RARB Expert Review Green;Victorian Clinical Genetics Services Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Microphthalmia, syndromic 12, MIM# 615524 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 30880327;30281527;24075189;27120018;25457163;17506106 False 3 100;0;0 1.43 True Other ENSG00000077092 ENSG00000077092 HGNC:9865 RAX gene RAX Expert Review Green;Victorian Clinical Genetics Services Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Microphthalmia, isolated 3, MIM# 611038 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 14662654;18783408;30811539;24033328;22524605 False 3 100;0;0 1.43 True ENSG00000134438 ENSG00000134438 HGNC:18662 RBP4 gene RBP4 Expert Review Green;Literature Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Microphthalmia, isolated, with coloboma 10 MIM#616428" Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 25910211;29178648 False 3 100;0;0 1.43 True ENSG00000138207 ENSG00000138207 HGNC:9922 RERE gene RERE Expert Review Green;Victorian Clinical Genetics Services Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 27087320;23451234;30896913;30061196 False 3 100;0;0 1.43 True ENSG00000142599 ENSG00000142599 HGNC:9965 RHOA gene RHOA Expert Review Green;Literature Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders Other normal cognition;leukoencephalopathy;micro-ophthalmia;strabismus;linear hypopigmentation;malar hypoplasia;downslanting palpebral fissures;microstomia Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 31570889 False 3 100;0;0 1.43 True ENSG00000067560 ENSG00000067560 HGNC:667 SALL4 gene SALL4 Expert list;Expert Review Green Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Duane-radial ray syndrome, MIM#607323 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 False 3 100;0;0 1.43 True ENSG00000101115 ENSG00000101115 HGNC:15924 SHH gene SHH Expert Review Green;Victorian Clinical Genetics Services Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microphthalmia with coloboma 5, MIM# 611638;Holoprosencephaly 3, MIM# 142945 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 21976454;12503095 False 3 100;0;0 1.43 True ENSG00000164690 ENSG00000164690 HGNC:10848 SIX3 gene SIX3 Expert Review Green;Victorian Clinical Genetics Services Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly 2, MIM# 157170 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 21976454 False 3 100;0;0 1.43 True ENSG00000138083 ENSG00000138083 HGNC:10889 SIX6 gene SIX6 Expert Review Green;Victorian Clinical Genetics Services Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Optic disc anomalies with retinal and/or macular dystrophy, MIM# 212550 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 23167593;24702266;33108933;31207931;24702266 False 3 100;0;0 1.43 True ENSG00000184302 ENSG00000184302 HGNC:10892 SMCHD1 gene SMCHD1 Expert Review Green;Victorian Clinical Genetics Services Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bosma arhinia microphthalmia syndrome (MIM#603457);Arhinia, choanal atresia, microphthalmia MONDO:0011323 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 28067911;31243061 False 3 100;0;0 1.43 True Other ENSG00000101596 ENSG00000101596 HGNC:29090 SMO gene SMO Expert list;Expert Review Green Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders Other Curry-Jones syndrome, somatic mosaic, MIM#601707 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 False 3 100;0;0 1.43 True ENSG00000128602 ENSG00000128602 HGNC:11119 SMOC1 gene SMOC1 Expert Review Green;Victorian Clinical Genetics Services Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Microphthalmia with limb anomalies, MIM# 206920 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 21194678;21194680;30445150 False 3 100;0;0 1.43 True ENSG00000198732 ENSG00000198732 HGNC:20318 SOX2 gene SOX2 Expert Review Green;Victorian Clinical Genetics Services Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microphthalmia, syndromic 3, MIM# 206900;Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 30450772;28121235;25542770;24498598;24211324;24033328;21326281 False 3 100;0;0 1.43 True ENSG00000181449 ENSG00000181449 HGNC:11195 STRA6 gene STRA6 Expert Review Green;Victorian Clinical Genetics Services Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Microphthalmia, isolated, with coloboma 8, MIM# 601186;Microphthalmia, syndromic 9, MIM# 601186 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 17273977;17503335;19213032;26373900;30880327;26373900;25457163 False 3 100;0;0 1.43 True ENSG00000137868 ENSG00000137868 HGNC:30650 TBC1D20 gene TBC1D20 Expert Review Green;Victorian Clinical Genetics Services Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 4, MIM# 615663 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 24239381 False 3 100;0;0 1.43 True ENSG00000125875 ENSG00000125875 HGNC:16133 TENM3 gene TENM3 Expert Review Green;Literature Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Microphthalmia, syndromic 15, MIM#615145;coloboma Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 30513139;22766609;27103084;29753094 False 3 100;0;0 1.43 True ENSG00000218336 ENSG00000218336 HGNC:29944 TFAP2A gene TFAP2A Expert Review Green;Victorian Clinical Genetics Services Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Branchiooculofacial syndrome, MIM# 113620 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 19206157;19685247;20358615;32766183;24783654 False 3 100;0;0 1.43 True ENSG00000137203 ENSG00000137203 HGNC:11742 TMEM98 gene TMEM98 Expert list;Expert Review Green Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nanophthalmos 4 MIM#615972 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 24852644;26392740 False 3 100;0;0 1.43 True ENSG00000006042 ENSG00000006042 HGNC:24529 VSX2 gene VSX2 Expert Review Green;Victorian Clinical Genetics Services Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Microphthalmia with coloboma 3, MIM# 610092;Microphthalmia, isolated 2, MIM# 610093 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 15257456;17661825;31884615;28121235;27301076;24033328 False 3 100;0;0 1.43 True ENSG00000119614 ENSG00000119614 HGNC:1975 WDR37 gene WDR37 Expert Review Green;Victorian Clinical Genetics Services Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurooculocardiogenitourinary syndrome, MIM# 618652 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 31327508;31327508 False 3 100;0;0 1.43 True ENSG00000047056 ENSG00000047056 HGNC:31406 WLS gene WLS Expert Review Green;Literature Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Zaki syndrome, MIM#619648 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 PMID: 34587386 False 3 100;0;0 1.43 True ENSG00000116729 ENSG00000116729 HGNC:30238 WNT7B gene WNT7B Expert Review Green;Literature Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Pulmonary hypoplasia, Diaphragmatic anomalies, Anophthalmia/microphthalmia and Cardiac defects syndrome;Multiple congenital anomalies/dysmorphic features syndrome MONDO:0043005, WNT7B-related Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 35790350 False 3 50;50;0 1.43 True ENSG00000188064 ENSG00000188064 HGNC:12787 YAP1 gene YAP1 Expert list;Expert Review Green Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, MIM#120433 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 24462371;27267789;28801591 False 3 100;0;0 1.43 True ENSG00000137693 ENSG00000137693 HGNC:16262 ANK3 gene ANK3 Expert Review Amber;Literature Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted coloboma MONDO#0001476, ANK3-related Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 35034853 False 2 0;100;0 1.43 True ENSG00000151150 ENSG00000151150 HGNC:494 BMP3 gene BMP3 Expert Review Amber;Literature Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted coloboma, MONDO:0001476;microphthalmia, MONDO:0021129 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 35089417 False 2 0;100;0 1.43 True ENSG00000152785 ENSG00000152785 HGNC:1070 C16orf62 gene C16orf62 Expert Review Amber;Literature Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 25434475;31712251 False 2 0;100;0 1.43 True ENSG00000103544 ENSG00000103544 HGNC:24641 CDON gene CDON Expert Review Amber;Literature Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Coloboma Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 PMID: 32729136 False 2 0;100;0 1.43 True ENSG00000064309 ENSG00000064309 HGNC:17104 RPGRIP1L gene RPGRIP1L Expert list;Expert Review Amber Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal COACH syndrome, MIM#216360 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 False 2 0;100;0 1.43 True ENSG00000103494 ENSG00000103494 HGNC:29168 TOGARAM1 gene TOGARAM1 Expert Review Amber;Literature Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 37, MIM# 619185;Cleft of the lip and palate;Microphthalmia;Cerebral dysgenesis;Hydrocephalus Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 32747439;32453716 False 2 0;100;0 1.43 True ENSG00000198718 ENSG00000198718 HGNC:19959 ZRSR2 gene ZRSR2 Expert Review Amber;Literature Anophthalmia_Microphthalmia_Coloboma Ophthalmological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Orofaciodigital syndrome XXI, MIM# 301132 Anophthalmia;HP:0000528;Microphthalmia;HP:0000568;Coloboma;HP:0000589 38158857 False 2 0;100;0 1.43 True ENSG00000169249 ENSG00000169249 HGNC:23019