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 Red	Neurological ciliopathies		Neurology	BIALLELIC, autosomal or pseudoautosomal	Meckel syndrome 9, OMIM:614209;Meckel syndrome 9, MONDO:0013630;Joubert syndrome 27, OMIM:617120;Joubert syndrome 27, MONDO:0014927				21493627 (case report, with an additional variant in the CEP290 gene suggesting oligogenetic inheritance);24886560 (2 cases with Joubert);25920555 (report a case with heterozygous mutations in CC2D2A and B9D1)		False	1	0;0;100	6.21	False		ENSG00000108641	ENSG00000108641	HGNC:24123													
CCDC28B	gene	CCDC28B	Expert list;Expert Review Red	Neurological ciliopathies		Neurology	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome, MONDO:0018772				32139166;23727834		False	1	0;50;50	6.21	False		ENSG00000160050	ENSG00000160050	HGNC:28163													
EXOC8	gene	EXOC8	Expert Review Red	Neurological ciliopathies		Neurology	Unknown	No OMIM phenotype;Joubert syndrome (Dixon-Salazar (2012) Sci Transl Med 4, 138ra78)				22700954		False	1	0;0;100	6.21	False		ENSG00000116903	ENSG00000116903	HGNC:24659													
KIF14	gene	KIF14	Expert Review Red	Neurological ciliopathies		Neurology	BIALLELIC, autosomal or pseudoautosomal	Meckel syndrome 12, OMIM:616258;Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552				24128419		False	1	0;100;0	6.21	False		ENSG00000118193	ENSG00000118193	HGNC:19181													
PDE6D	gene	PDE6D	Expert Review Red	Neurological ciliopathies		Neurology	BIALLELIC, autosomal or pseudoautosomal	?Joubert syndrome 22;Joubert Syndrome and Senior-Loken Syndrome 24 gene panel;?Joubert syndrome 22, 615665				24166846		False	1	0;50;50	6.21	False		ENSG00000156973	ENSG00000156973	HGNC:8788													
RABL2A	gene	RABL2A	Literature	Neurological ciliopathies		Neurology	Unknown	neural tube defects				33075816		False	1	0;0;100	6.21	False		ENSG00000144134	ENSG00000144134	HGNC:9799													
TAPT1	gene	TAPT1	Expert Review Red	Neurological ciliopathies		Neurology	BIALLELIC, autosomal or pseudoautosomal	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 616897				26365339		False	1	0;0;100	6.21	False		ENSG00000169762	ENSG00000169762	HGNC:26887													
TBC1D32	gene	TBC1D32	Expert Review Red	Neurological ciliopathies		Neurology	BIALLELIC, autosomal or pseudoautosomal	Orofaciodigital syndrome IX, OMIM:258865;orofaciodigital syndrome IX, MONDO:0009795;Alsahan-Harris syndrome, OMIM:621307;Alsahan-Harris syndrome, MONDO:0979871				32573025;31130284;32060556;24285566;35875813		False	1	0;0;0	6.21	False		ENSG00000146350	ENSG00000146350	HGNC:21485													
WDR63	gene	WDR63	Expert Review Red	Neurological ciliopathies		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	occipital encephalocele and inconsistent brain lobulation;ciliopathy-like disorder						False	1	0;0;0	6.21	False		ENSG00000162643	ENSG00000162643	HGNC:30711