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
ADAMTS9	gene	ADAMTS9	Expert list;Expert Review Amber	Ciliopathies		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Nephropathy-related ciliopathy, MONDO:0022409, ADAMTS9-related				30609407		False	2	50;50;0	1.99	True		ENSG00000163638	ENSG00000163638	HGNC:13202													
CCDC28B	gene	CCDC28B	Expert Review Amber;Victorian Clinical Genetics Services	Ciliopathies		Dysmorphic and congenital abnormality syndromes	Other	{Bardet-Biedl syndrome 1, modifier of}, MIM#209900;Joubert syndrome				32139166		False	2	0;50;50	1.99	True		ENSG00000160050	ENSG00000160050	HGNC:28163													
CEP55	gene	CEP55	Expert Review Amber;Victorian Clinical Genetics Services	Ciliopathies		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM# 236500				28264986;28295209;32100459		False	2	0;100;0	1.99	True		ENSG00000138180	ENSG00000138180	HGNC:1161													
FGF4	gene	FGF4	Expert Review Amber;Literature	Ciliopathies		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Short-rib thoracic dysplasia 22 without polydactyly, MIM# 621260				40259859		False	2	0;100;0	1.99	True		ENSG00000075388	ENSG00000075388	HGNC:3682													
IFT57	gene	IFT57	Expert Review Amber;Literature	Ciliopathies		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Bardet-Bield syndrome;ciliopathy - MONDO:0005308				PMID:40273360		False	2	0;100;0	1.99	True		ENSG00000114446	ENSG00000114446	HGNC:17367													
KIF3B	gene	KIF3B	Expert Review Amber;Literature	Ciliopathies		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	hepatic fibrosis;retinitis pigmentosa;postaxial polydactyly;Retinitis pigmentosa 89, MIM#618955				32386558		False	2	0;100;0	1.99	True		ENSG00000101350	ENSG00000101350	HGNC:6320													
PRKCSH	gene	PRKCSH	Expert Review Amber;Victorian Clinical Genetics Services	Ciliopathies		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Polycystic liver disease 1 (MIM#174050)				19876928		False	2	0;100;0	1.99	True	Other	ENSG00000130175	ENSG00000130175	HGNC:9411													
SBDS	gene	SBDS	Expert Review Amber;Victorian Clinical Genetics Services	Ciliopathies		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Shwachman-Diamond syndrome, MIM# 260400				22554078		False	2	0;100;0	1.99	True		ENSG00000126524	ENSG00000126524	HGNC:19440													
SEC63	gene	SEC63	Expert Review Amber;Victorian Clinical Genetics Services	Ciliopathies		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Polycystic liver disease 2 (MIM#617004)				15133510;19876928		False	2	0;100;0	1.99	True		ENSG00000025796	ENSG00000025796	HGNC:21082													
SLC30A7	gene	SLC30A7	Expert Review Amber;Literature	Ciliopathies		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Joubert syndrome (MONDO:0018772), SLC30A7-related				PMID: 35751429		False	2	0;100;0	1.99	True		ENSG00000162695	ENSG00000162695	HGNC:19306													
TAPT1	gene	TAPT1	Expert Review Amber;Victorian Clinical Genetics Services	Ciliopathies		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897)				26365339		False	2	0;100;0	1.99	True		ENSG00000169762	ENSG00000169762	HGNC:26887													
TOPORS	gene	TOPORS	Expert Review;Expert Review Amber	Ciliopathies		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	ciliopathy, MONDO:0005308, TOPORS-associated;postaxial polydactyly, MONDO:0020927, TOPORS-related;multiple lingual hamartomas				34132027		False	2	50;50;0	1.99	True		ENSG00000197579	ENSG00000197579	HGNC:21653													
VPS13B	gene	VPS13B	Expert Review;Expert Review Amber	Ciliopathies		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	"Cohen syndrome (MIM#	216550)"						False	2	0;100;0	1.99	True		ENSG00000132549	ENSG00000132549	HGNC:2183													
ZNF423	gene	ZNF423	Expert Review Amber;Victorian Clinical Genetics Services	Ciliopathies		Dysmorphic and congenital abnormality syndromes	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Joubert syndrome 19, OMIM# 614844;Nephronophthisis 14, OMIM:614844				22863007		False	2	0;50;50	1.99	True		ENSG00000102935	ENSG00000102935	HGNC:16762													
ZSWIM6	gene	ZSWIM6	Expert Review;Expert Review Amber	Ciliopathies		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	"Acromelic frontonasal dysostosis (MIM#603671);Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, MIM#	617865"				25105228;28213462;29198722		False	2	0;100;0	1.99	True	Other	ENSG00000130449	ENSG00000130449	HGNC:29316