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
ARL3	gene	ARL3	Expert list;Expert Review Amber	Neurological ciliopathies		Neurology	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 35, OMIM:61816				30269812;16565502;33748123;31743939;26964041;30932721;34485303		False	2	100;0;0	6.17	False		ENSG00000138175	ENSG00000138175	HGNC:694													
CEP76	gene	CEP76	Expert Review Amber;Literature	Neurological ciliopathies		Neurology	BIALLELIC, autosomal or pseudoautosomal	retinitis pigmentosa, MONDO:0019200;Joubert syndrome, MONDO:0018772;Bardet-Biedl syndrome, MONDO:0015229				41105778		False	2	100;0;0	6.17	False		ENSG00000101624	ENSG00000101624	HGNC:25727													
LRRC45	gene	LRRC45	Expert Review Amber;Literature	Neurological ciliopathies		Neurology	BIALLELIC, autosomal or pseudoautosomal	ciliopathy, MONDO:0005308;Abnormal brain morphology, HP:0012443;neurodevelopmental disorder, MONDO:0700092				34716235;39638757		False	2	100;0;0	6.17	False		ENSG00000169683	ENSG00000169683	HGNC:28302													
POC1B	gene	POC1B	Expert Review Amber	Neurological ciliopathies		Neurology	BIALLELIC, autosomal or pseudoautosomal	Cone-rod dystrophy 20 615973, AUTOSOMAL-RECESSIVE CONE-ROD DYSTROPHY;Joubert Syndrome;Senior-Loken Syndrome						False	2	50;0;50	6.17	False		ENSG00000139323	ENSG00000139323	HGNC:30836													
ZNF423	gene	ZNF423	Expert Review Amber	Neurological ciliopathies		Neurology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Joubert syndrome 19, OMIM:614844;Nephronophthisis 14, OMIM:614844				22863007;32925911;33323469		False	2	0;50;50	6.17	False		ENSG00000102935	ENSG00000102935	HGNC:16762