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 FOXC1 gene FOXC1 Expert Review Green;Wessex and West Midlands GLH Sporadic aniridia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aniridia, MONDO:0019172 19279310;25691405;27124303;32720677 False 3 100;0;0 3.5 False ENSG00000054598 ENSG00000054598 HGNC:3800 ITPR1 gene ITPR1 Expert Review Green;Wessex and West Midlands GLH Sporadic aniridia BOTH monoallelic and biallelic, autosomal or pseudoautosomal Gillespie syndrome, OMIM:206700 27108797;27108798 False 3 100;0;0 3.5 False ENSG00000150995 ENSG00000150995 HGNC:6180 PAX6 gene PAX6 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN;Wessex and West Midlands GLH Sporadic aniridia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aniridia, OMIM:106210 1302030;8111379;7951315;7666404;7550230;19876904;9931324;12552561;11826019; 11553050;17148041;17595013;17406642;32467297;33782094 False 3 100;0;0 3.5 False ENSG00000007372 ENSG00000007372 HGNC:8620 PITX2 gene PITX2 Expert Review Amber;Wessex and West Midlands GLH Sporadic aniridia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aniridia, MONDO:0019172 21423868;27124303 False 2 0;100;0 3.5 False ENSG00000164093 ENSG00000164093 HGNC:9005 ISCA-37401-Loss region Expert Review Green;ClinGen Sporadic aniridia MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome;194072 False 3 0;0;0 3.5 False 11 31781961 32489442 3 60 cnv_loss 11p13 (WAGR syndrome) region Loss