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
EXOC3L2	gene	EXOC3L2	Expert list;Expert Review Amber	Rare multisystem ciliopathy disorders	Congenital malformations caused by ciliopathies	Ciliopathies	BIALLELIC, autosomal or pseudoautosomal	Brain malformation renal syndrome, OMIM:620943				28749478;27894351		False	2	0;0;100	1.180	False		ENSG00000130201	ENSG00000283632	HGNC:30162													
FAM149B1	gene	FAM149B1	Expert Review Amber;Literature	Rare multisystem ciliopathy disorders	Congenital malformations caused by ciliopathies	Ciliopathies	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome;oral-facial-digital syndrome;OFD VI				30905400		False	2	0;100;0	1.180	False		ENSG00000138286	ENSG00000138286	HGNC:29162													
GLIS2	gene	GLIS2	Emory Genetics Laboratory;Expert list;Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN	Rare multisystem ciliopathy disorders	Congenital malformations caused by ciliopathies	Ciliopathies	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis 7, 611498;Nephronophthisis;NPHP				26374130;23559409;18227149;17618285;23559409		False	2	0;0;100	1.180	False		ENSG00000126603	ENSG00000126603	HGNC:29450													
IFT81	gene	IFT81	Expert list;Expert Review Amber	Rare multisystem ciliopathy disorders	Congenital malformations caused by ciliopathies	Ciliopathies	BIALLELIC, autosomal or pseudoautosomal	Short-rib thoracic dysplasia 19 with or without polydactyly, 617895				26275418;27666822		False	2	100;0;0	1.180	False		ENSG00000122970	ENSG00000122970	HGNC:14313													
POC1B	gene	POC1B	Expert list;Expert Review Amber;UKGTN	Rare multisystem ciliopathy disorders	Congenital malformations caused by ciliopathies	Ciliopathies	BIALLELIC, autosomal or pseudoautosomal	Joubert Syndrome;Senior-Loken Syndrome 24 gene panel;Cone-rod dystrophy 20 615973;AUTOSOMAL-RECESSIVE CONE-ROD DYSTROPHY				24945461;25044745;25018096;29220607;29377742		False	2	50;0;50	1.180	False		ENSG00000139323	ENSG00000139323	HGNC:30836													
ZNF423	gene	ZNF423	Emory Genetics Laboratory;Expert list;Expert Review Amber;Orphanet;Other;Radboud University Medical Center, Nijmegen	Rare multisystem ciliopathy disorders	Congenital malformations caused by ciliopathies	Ciliopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Joubert syndrome 19, OMIM:614844;Nephronophthisis 14, OMIM:614844				22863007		False	2	0;0;100	1.180	False		ENSG00000102935	ENSG00000102935	HGNC:16762