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
B9D1	gene	B9D1	Expert Review Amber;Victorian Clinical Genetics Services	Joubert syndrome and other neurological ciliopathies		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Meckel syndrome 9, MIM# 614209;Joubert syndrome 27, MIM# 617120			Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772	24886560;21493627;25920555		False	2	0;100;0	1.28	True		ENSG00000108641	ENSG00000108641	HGNC:24123													
CCDC28B	gene	CCDC28B	Expert list;Expert Review Amber	Joubert syndrome and other neurological ciliopathies		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome			Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772	32139166		False	2	0;100;0	1.28	True		ENSG00000160050	ENSG00000160050	HGNC:28163													
CENPF	gene	CENPF	Expert Review;Expert Review Amber	Joubert syndrome and other neurological ciliopathies		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Stromme syndrome (MIM#243605)			Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772	25564561;28407396;26820108		False	2	0;100;0	1.28	True		ENSG00000117724	ENSG00000117724	HGNC:1857													
CEP76	gene	CEP76	Expert Review Amber;Other	Joubert syndrome and other neurological ciliopathies		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	complex neurodevelopmental disorder MONDO:0100038;Joubert syndrome;Bardet-Biedl syndrome;retinitis pigmentosa			Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772			False	2	100;0;0	1.28	True		ENSG00000101624	ENSG00000101624	HGNC:25727													
DHCR7	gene	DHCR7	Expert Review;Expert Review Amber	Joubert syndrome and other neurological ciliopathies		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Smith-Lemli-Opitz syndrome (MIM#270400)			Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772	23059950		False	2	0;100;0	1.28	True		ENSG00000172893	ENSG00000172893	HGNC:2860													
EVC	gene	EVC	Expert Review;Expert Review Amber	Joubert syndrome and other neurological ciliopathies		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Ellis-van Creveld syndrome (MIM#225500)			Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772	23220543		False	2	0;100;0	1.28	True		ENSG00000072840	ENSG00000072840	HGNC:3497													
GLI3	gene	GLI3	Expert Review;Expert Review Amber	Joubert syndrome and other neurological ciliopathies		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Greig cephalopolysyndactyly syndrome (MIM#175700);Pallister-Hall syndrome (MIM#146510)			Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772			False	2	0;100;0	1.28	True		ENSG00000106571	ENSG00000106571	HGNC:4319													
HYLS1	gene	HYLS1	Expert list;Expert Review Amber	Joubert syndrome and other neurological ciliopathies		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	"Hydrolethalus syndrome	236680"			Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772	PMID: 26830932		False	2	0;100;0	1.28	True		ENSG00000198331	ENSG00000198331	HGNC:26558													
ICK	gene	ICK	Expert Review;Expert Review Amber	Joubert syndrome and other neurological ciliopathies		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Endocrine-cerebroosteodysplasia (MIM#612651)			Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772	19185282;27069622;27466187;24797473;24853502		False	2	0;100;0	1.28	True		ENSG00000112144	ENSG00000112144	HGNC:21219													
NID1	gene	NID1	Expert Review Amber;Victorian Clinical Genetics Services	Joubert syndrome and other neurological ciliopathies		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Dandy-Walker malformation and occipital cephalocele;Hydrocephalus with or without seizures			Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772	23674478;25558065;12480912;30773799		False	2	0;100;0	1.28	True		ENSG00000116962	ENSG00000116962	HGNC:7821													
NPHP3	gene	NPHP3	Expert Review Amber;Victorian Clinical Genetics Services	Joubert syndrome and other neurological ciliopathies		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Meckel syndrome 7, MIM# 267010			Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772	18371931		False	2	0;100;0	1.28	True		ENSG00000113971	ENSG00000113971	HGNC:7907													
SLC30A7	gene	SLC30A7	Expert Review Amber;Literature	Joubert syndrome and other neurological ciliopathies		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Joubert syndrome (MONDO:0018772), SLC30A7-related			Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772	PMID: 35751429		False	2	0;100;0	1.28	True		ENSG00000162695	ENSG00000162695	HGNC:19306													
TMEM107	gene	TMEM107	Expert Review;Expert Review Amber	Joubert syndrome and other neurological ciliopathies		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Meckel syndrome 13 (MIM#617562);Orofaciodigital syndrome XVI (MIM#617563);Joubert syndrome 29, MIM# 617562			Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772	26595381;26123494		False	2	0;100;0	1.28	True		ENSG00000179029	ENSG00000179029	HGNC:28128													
TOPORS	gene	TOPORS	Expert Review Amber;Literature	Joubert syndrome and other neurological ciliopathies		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome, MONDO:0018772, TOPORS-related			Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772	PMID: 37227088;34132027		False	2	0;100;0	1.28	True		ENSG00000197579	ENSG00000197579	HGNC:21653													
VPS13B	gene	VPS13B	Expert Review;Expert Review Amber	Joubert syndrome and other neurological ciliopathies		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Cohen syndrome (MIM# 216550)			Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772			False	2	0;100;0	1.28	True		ENSG00000132549	ENSG00000132549	HGNC:2183													
ZNF423	gene	ZNF423	Expert Review;Expert Review Amber	Joubert syndrome and other neurological ciliopathies		Neurology and neurodevelopmental disorders	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Joubert syndrome 19 (MIM#614844)			Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772	22863007		False	2	0;100;0	1.28	True	Other	ENSG00000102935	ENSG00000102935	HGNC:16762													
ZSWIM6	gene	ZSWIM6	Expert Review;Expert Review Amber	Joubert syndrome and other neurological ciliopathies		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Acromelic frontonasal dysostosis (MIM#603671);Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, MIM#617865			Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772	25105228;28213462;29198722		False	2	0;100;0	1.28	True		ENSG00000130449	ENSG00000130449	HGNC:29316