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
ARMC8	gene	ARMC8	Expert Review Red;Victorian Clinical Genetics Services	Joubert syndrome and other neurological ciliopathies		Neurology and neurodevelopmental disorders	Unknown				Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772			False	1	0;0;100	1.28	True		ENSG00000114098	ENSG00000114098	HGNC:24999													
FOXC1	gene	FOXC1	Expert Review Red;Victorian Clinical Genetics Services	Joubert syndrome and other neurological ciliopathies		Neurology and neurodevelopmental disorders	Unknown				Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772			False	1	0;0;100	1.28	True		ENSG00000054598	ENSG00000054598	HGNC:3800													
LAMC1	gene	LAMC1	Expert Review Red;Victorian Clinical Genetics Services	Joubert syndrome and other neurological ciliopathies		Neurology and neurodevelopmental disorders	Unknown				Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772			False	1	0;0;100	1.28	True		ENSG00000135862	ENSG00000135862	HGNC:6492													
POC1B	gene	POC1B	Expert list;Expert Review Red	Joubert syndrome and other neurological ciliopathies		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	"Cone-rod dystrophy 20	615973"			Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772	PMID: 25044745;31390656;25018096		False	1	0;0;100	1.28	True		ENSG00000139323	ENSG00000139323	HGNC:30836													
SCLT1	gene	SCLT1	Expert list;Expert Review Red	Joubert syndrome and other neurological ciliopathies		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Orofaciodigital syndrome type IX;Senior-Loken syndrome;Bardet-Biedl syndrome			Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772	PMID: 24285566;32253632;30425282		False	1	0;50;50	1.28	True		ENSG00000151466	ENSG00000151466	HGNC:26406													
TTC21B	gene	TTC21B	Expert Review Red;Victorian Clinical Genetics Services	Joubert syndrome and other neurological ciliopathies		Neurology and neurodevelopmental disorders	Unknown				Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772	21258341		False	1	0;0;100	1.28	True		ENSG00000123607	ENSG00000123607	HGNC:25660													
VLDLR	gene	VLDLR	Expert Review Red;Victorian Clinical Genetics Services	Joubert syndrome and other neurological ciliopathies		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, MIM# 224050			Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772			False	1	0;0;100	1.28	True		ENSG00000147852	ENSG00000147852	HGNC:12698													
WDR81	gene	WDR81	Expert Review Red;Victorian Clinical Genetics Services	Joubert syndrome and other neurological ciliopathies		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 610185;Hydrocephalus, congenital, 3, with brain anomalies 617967			Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772	28556411;21885617		False	1	0;0;100	1.28	True		ENSG00000167716	ENSG00000167716	HGNC:26600													
WNT1	gene	WNT1	Expert Review Red;Victorian Clinical Genetics Services	Joubert syndrome and other neurological ciliopathies		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Osteogenesis imperfecta, type XV (MIM#615220)			Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772	26671912;23499309;23434763		False	1	0;50;50	1.28	True		ENSG00000125084	ENSG00000125084	HGNC:12774													
ZIC1	gene	ZIC1	Expert Review Red;Victorian Clinical Genetics Services	Joubert syndrome and other neurological ciliopathies		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Structural brain anomalies with impaired intellectual development and craniosynostosis (MIM#618736)			Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772	26340333;9412507;14981711		False	1	0;50;50	1.28	True	Other	ENSG00000152977	ENSG00000152977	HGNC:12872													
ZIC4	gene	ZIC4	Expert Review Red;Victorian Clinical Genetics Services	Joubert syndrome and other neurological ciliopathies		Neurology and neurodevelopmental disorders	Unknown				Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772	21204220;15338008		False	1	0;0;100	1.28	True		ENSG00000174963	ENSG00000174963	HGNC:20393