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
BBIP1	gene	BBIP1	Expert list;Expert Review Amber;Radboud University Medical Center, Nijmegen;UKGTN	Ophthalmological ciliopathies		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 18, OMIM:615995				24026985;32055034;37239474		False	2	100;0;0	5.22	False		ENSG00000214413	ENSG00000214413	HGNC:28093													
CEP76	gene	CEP76	Expert Review Amber;Literature	Ophthalmological ciliopathies		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	ciliopathy, MONDO:0005308;Joubert syndrome, MONDO:0018772;Bardet-Biedl syndrome, MONDO:0015229				41105778		False	2	100;0;0	5.22	False		ENSG00000101624	ENSG00000101624	HGNC:25727													
KIF3B	gene	KIF3B	Expert Review Amber;Literature	Ophthalmological ciliopathies		Ophthalmology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	hepatic fibrosis;Retinitis pigmentosa 89, OMIM:618955, MONDO:0030071;postaxial polydactyly				32386558		False	2	0;100;0	5.22	False		ENSG00000101350	ENSG00000101350	HGNC:6320													
LRRC45	gene	LRRC45	Expert Review Amber;Literature	Ophthalmological ciliopathies		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	ciliopathy, MONDO:0005308;Abnormal brain morphology, HP:0012443;neurodevelopmental disorder, MONDO:0700092				30131441;34716235;39638757		False	2	0;100;0	5.22	False		ENSG00000169683	ENSG00000169683	HGNC:28302													
MDM1	gene	MDM1	Expert Review Amber;Literature	Ophthalmological ciliopathies		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	Retinal dystrophy, HP:0000556				41742423		False	2	100;0;0	5.22	False	Other	ENSG00000111554	ENSG00000111554	HGNC:29917													
POC1B	gene	POC1B	Expert list;Expert Review Amber;UKGTN	Ophthalmological ciliopathies		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	Senior-Loken Syndrome 24 gene panel;Cone-rod dystrophy 20 615973;Joubert Syndrome;AUTOSOMAL-RECESSIVE CONE-ROD DYSTROPHY				29377742;25044745;29220607;25018096;24945461		False	2	50;0;50	5.22	False		ENSG00000139323	ENSG00000139323	HGNC:30836													
ZNF423	gene	ZNF423	Emory Genetics Laboratory;Expert list;Expert Review Amber;Orphanet;Other;Radboud University Medical Center, Nijmegen	Ophthalmological ciliopathies		Ophthalmology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Joubert syndrome 19, OMIM:614844;Nephronophthisis 14, OMIM:614844				22863007		False	2	0;0;100	5.22	False		ENSG00000102935	ENSG00000102935	HGNC:16762