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 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 1.46 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 1.46 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 1.46 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 1.46 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 1.46 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 1.46 False ENSG00000184302 ENSG00000184302 HGNC:10892