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 Anophthalmia or microphthalmia 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 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 1.51 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 1.51 False ENSG00000137822 ENSG00000137822 HGNC:16691