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
ACVR2B	gene	ACVR2B	Expert Review Red;Victorian Clinical Genetics Services	Ciliopathies		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Heterotaxy, visceral, 4, autosomal 613751				9916847;30622330;21864452		False	1	0;0;100	1.62	True		ENSG00000114739	ENSG00000114739	HGNC:174													
ARMC8	gene	ARMC8	Expert Review Red;Victorian Clinical Genetics Services	Ciliopathies		Dysmorphic and congenital abnormality syndromes	Unknown							False	1	0;0;100	1.62	True		ENSG00000114098	ENSG00000114098	HGNC:24999													
CEP19	gene	CEP19	Expert list;Expert Review Red;Literature	Ciliopathies		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndorme				29127258;24268657		False	1	0;0;100	1.62	True		ENSG00000174007	ENSG00000174007	HGNC:28209													
CFAP53	gene	CFAP53	Expert Review Red;Victorian Clinical Genetics Services	Ciliopathies		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Heterotaxy, visceral, 6, autosomal recessive 614779				28621423;22577226;26531781		False	1	0;0;100	1.62	True		ENSG00000172361	ENSG00000172361	HGNC:26530													
CFC1	gene	CFC1	Expert Review Red;Victorian Clinical Genetics Services	Ciliopathies		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Heterotaxy, visceral, 2, autosomal 605376				31633655;18162845;25423076;11062482		False	1	0;0;100	1.62	True		ENSG00000136698	ENSG00000136698	HGNC:18292													
CRELD1	gene	CRELD1	Expert Review Red;Victorian Clinical Genetics Services	Ciliopathies		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Atrioventricular septal defect, partial, with heterotaxy syndrome 606217				22740159		False	1	0;0;100	1.62	True		ENSG00000163703	ENSG00000163703	HGNC:14630													
GDF1	gene	GDF1	Expert Review Red;Victorian Clinical Genetics Services	Ciliopathies		Dysmorphic and congenital abnormality syndromes	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Congenital heart defects, multiple types, 6 613854;Right atrial isomerism (Ivemark) 208530				32144877		False	1	0;0;100	1.62	True		ENSG00000130283	ENSG00000130283	HGNC:4214													
MUC1	gene	MUC1	Expert Review Red;Victorian Clinical Genetics Services	Ciliopathies		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Medullary cystic kidney disease 1 (MIM#174000)				29186029;29156055;29520014		False	1	0;0;100	1.62	True		ENSG00000185499	ENSG00000185499	HGNC:7508													
NODAL	gene	NODAL	Expert Review Red;Victorian Clinical Genetics Services	Ciliopathies		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Heterotaxy, visceral, 5 (MIM#270100)						False	1	0;0;100	1.62	True		ENSG00000156574	ENSG00000156574	HGNC:7865													
PMM2	gene	PMM2	Expert Review;Expert Review Red	Ciliopathies		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type Ia (MIM#212065)				28108845		False	1	0;50;50	1.62	True		ENSG00000140650	ENSG00000140650	HGNC:9115													
SCNN1G	gene	SCNN1G	Expert Review;Expert Review Red	Ciliopathies		Dysmorphic and congenital abnormality syndromes	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Bronchiectasis with or without elevated sweat chloride 3 (MIM#613071);Liddle syndrome 2 (MIM#618114);Pseudohypoaldosteronism, type I (MIM#264350)				22207244;31655555;30801930;28484659		False	1	0;50;50	1.62	True		ENSG00000166828	ENSG00000166828	HGNC:10602													
TRIM32	gene	TRIM32	Expert Review Red;Victorian Clinical Genetics Services	Ciliopathies		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 11, MIM# 615988				16606853		False	1	0;0;100	1.62	True		ENSG00000119401	ENSG00000119401	HGNC:16380													
WDR81	gene	WDR81	Expert list;Expert Review Red;Victorian Clinical Genetics Services	Ciliopathies		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	"Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2	610185;Hydrocephalus, congenital, 3, with brain anomalies	617967"				PMID: 28556411;21885617		False	1	0;0;100	1.62	True		ENSG00000167716	ENSG00000167716	HGNC:26600													
ZIC3	gene	ZIC3	Expert Review Red;Victorian Clinical Genetics Services	Ciliopathies		Dysmorphic and congenital abnormality syndromes	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Heterotaxy, visceral, 1, X-linked (MIM#306955)				27406248;20452998		False	1	50;0;50	1.62	True		ENSG00000156925	ENSG00000156925	HGNC:12874