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	Emory Genetics Laboratory;Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Orphanet;Other;Radboud University Medical Center, Nijmegen;UKGTN	Skeletal ciliopathies		Musculoskeletal	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	6.12	False		ENSG00000108641	ENSG00000108641	HGNC:24123													
PMM2	gene	PMM2	Expert Review Red;Literature;NHS GMS	Skeletal ciliopathies		Musculoskeletal	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type Ia 212065				9140401		False	1	33;0;67	6.12	False		ENSG00000140650	ENSG00000140650	HGNC:9115													
RABL2A	gene	RABL2A	Literature	Skeletal ciliopathies		Musculoskeletal	Unknown	polydactyly;growth retardation				33075816		False	1	0;0;100	6.12	False		ENSG00000144134	ENSG00000144134	HGNC:9799													
TAPT1	gene	TAPT1	Expert list;Expert Review Red	Skeletal ciliopathies		Musculoskeletal	BIALLELIC, autosomal or pseudoautosomal	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 616897				26365339		False	1	0;0;100	6.12	False		ENSG00000169762	ENSG00000169762	HGNC:26887													
TBC1D32	gene	TBC1D32	Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen	Skeletal ciliopathies		Musculoskeletal	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	6.12	False		ENSG00000146350	ENSG00000146350	HGNC:21485