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		Ophthalmology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Aniridia, MONDO:0019172				19279310;25691405;27124303;32720677		False	3	100;0;0	3.6	False		ENSG00000054598	ENSG00000054598	HGNC:3800													
ITPR1	gene	ITPR1	Expert Review Green;Wessex and West Midlands GLH	Sporadic aniridia		Ophthalmology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Gillespie syndrome, OMIM:206700				27108797;27108798		False	3	100;0;0	3.6	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		Ophthalmology	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	3.6	False		ENSG00000007372	ENSG00000007372	HGNC:8620													
PITX2	gene	PITX2	Expert Review Amber;Wessex and West Midlands GLH	Sporadic aniridia		Ophthalmology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Aniridia, MONDO:0019172				21423868;27124303		False	2	0;100;0	3.6	False		ENSG00000164093	ENSG00000164093	HGNC:9005													
ELP4	gene	ELP4	Expert Review Red;Other;Radboud University Medical Center, Nijmegen;Wessex and West Midlands GLH	Sporadic aniridia		Ophthalmology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	?Aniridia 2, OMIM:617141				24290376		False	1	0;0;100	3.6	False		ENSG00000109911	ENSG00000109911	HGNC:1171													
TRIM44	gene	TRIM44	Expert Review Red;Other;Radboud University Medical Center, Nijmegen;Wessex and West Midlands GLH	Sporadic aniridia		Ophthalmology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	?Aniridia 3, OMIM:617142				26394807		False	1	0;0;100	3.6	False		ENSG00000166326	ENSG00000166326	HGNC:19016													
ISCA-37401-Loss	region		Expert Review Green;ClinGen	Sporadic aniridia		Ophthalmology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome;194072						False	3	0;0;0	3.6	False					11			31781961	32489442				3		60	cnv_loss	11p13 (WAGR syndrome) region Loss