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	Ritscher-Schinzel syndrome 3, OMIM:619135				31712251		False	2	0;100;0	1.57	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	1.57	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	1.57	False		ENSG00000137822	ENSG00000137822	HGNC:16691