Ciliopathies (Version 1.62)

Description

This panel was created by merging the Ciliopathy panels created by VCGS and RMH and is a consensus panel used by both.

It covers conditions caused by mutations in the genes encoding non-motile cilia components as well as a small number of conditions that can present as phenocopies.

Please note a number of smaller panels are available that cover specific ciliopathy phenotypes such as Bardet-Biedl syndrome, Jeune syndrome and Joubert syndrome.

Please refer to the Ciliary Dyskinesia panel for conditions caused by mutations in genes encoding components of the motile cilia, which present with predominantly respiratory phenotypes.

Panel Activity

16 reviewers

Kristin Rigbye (Victorian Clinical Genetics Services)
Andrew Fennell (Monash Genetics)
Alison Yeung (Victorian Clinical Genetics Services)
Russell Gear (Victorian Clinical Genetics Services)
Paul De Fazio (Victorian Clinical Genetics Services)
Arina Puzriakova (Genomics England)
Mark Cleghorn (Royal Melbourne Hospital)
Chirag Patel (Genetic Health Queensland)
Dean Phelan (Victorian Clinical Genetics Services)
Crystle Lee (Victorian Clinical Genetics Services)
Elena Savva (Victorian Clinical Genetics Services)
Bryony Thompson (Royal Melbourne Hospital)
Naomi Baker (Victorian Clinical Genetics Services)
Seb Lunke (Victorian Clinical Genetics Services)
Melanie Marty (Victorian Clinical Genetics Services)
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

153 Entities

153 reviewed, 122 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 153 Entitiess
Green Green List (high evidence)	AHI1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 3, MIM# 608629 Tags
Green Green List (high evidence)	ALMS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Alstrom syndrome, MIM# 203800 Tags
Green Green List (high evidence)	ANKS6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephronophthisis 16, MIM# 615382 MONDO:0014158 Tags
Green Green List (high evidence)	ARL13B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 8, MIM# 612291 Tags
Green Green List (high evidence)	ARL3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Joubert syndrome 35 MIM#618161 Tags
Green Green List (high evidence)	ARL6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 3, MIM# 600151 Retinitis pigmentosa 55, MIM# 613575 Tags
Green Green List (high evidence)	ARMC9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Joubert syndrome 30 617622 AR Tags
Green Green List (high evidence)	B9D2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 34, MIM# 614175 Meckel syndrome 10, MIM# 614175 Tags
Green Green List (high evidence)	BBS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 1, MIM# 209900 Tags
Green Green List (high evidence)	BBS10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 10, MIM# 615987 Tags
Green Green List (high evidence)	BBS12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 12, MIM# 615989 Tags
Green Green List (high evidence)	BBS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 2, MIM# 615981 Retinitis pigmentosa 74, MIM# 616562 Tags
Green Green List (high evidence)	BBS4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 4, MIM#615982 MONDO:0014433 Tags
Green Green List (high evidence)	BBS5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 5, MIM#615983 MONDO:0014434 Tags
Green Green List (high evidence)	BBS7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 7, MIM# 615984 MONDO:0014435 Tags
Green Green List (high evidence)	BBS9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 9, MIM#615986 MONDO:0014437 Tags
Green Green List (high evidence)	C21orf2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spondylometaphyseal dysplasia, axial, MIM# 602271 Retinal dystrophy with macular staphyloma, MIM# 617547 Tags new gene name
Green Green List (high evidence)	C2CD3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Orofaciodigital syndrome XIV, MIM# 615948 MONDO:0014413 Tags
Green Green List (high evidence)	C5orf42	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 17, MIM# 614615 Tags new gene name
Green Green List (high evidence)	C8orf37	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Bardet-Biedl syndrome 21, MIM#617406 Retinitis pigmentosa 64, MIM#614500 Tags
Green Green List (high evidence)	CBY1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes intellectual disability cerebellar ataxia molar tooth sign polydactyly Joubert syndrome Tags
Green Green List (high evidence)	CC2D2A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes COACH syndrome 2, MIM# 619111 Joubert syndrome 9, 612285 Meckel syndrome 6, 612284 Tags
Green Green List (high evidence)	CCDC32	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cardiofacioneurodevelopmental syndrome (CFNDS), MIM#619123 Craniofacial, cardiac, laterality and neurodevelopmental anomalies Tags
Green Green List (high evidence)	CENPF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Stromme syndrome (MIM#243605) Tags
Green Green List (high evidence)	CEP104	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 25, MIM# 616781 MONDO:0014770 Tags
Green Green List (high evidence)	CEP120	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 31, MIM# 617761 Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300 Tags
Green Green List (high evidence)	CEP164	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome Nephronophthisis 15, MIM# 614845 Oro-facio-digital syndrome Tags
Green Green List (high evidence)	CEP290	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 14, MIM# 615991 Joubert syndrome 5 610188 Leber congenital amaurosis 10, MIM# 611755 Meckel syndrome 4, MIM# 611134 Senior-Loken syndrome 6, MIM# 610189 Tags
Green Green List (high evidence)	CEP41	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 15, MIM# 614464 Tags
Green Green List (high evidence)	CEP76	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes complex neurodevelopmental disorder MONDO:0100038 Joubert syndrome Bardet-Biedl syndrome retinitis pigmentosa Tags
Green Green List (high evidence)	CEP83	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephronophthisis 18, MIM# 615862 MONDO:0014374 Retinal dystrophy ID Tags
Green Green List (high evidence)	CRB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ventriculomegaly with cystic kidney disease, MIM# 219730 Tags
Green Green List (high evidence)	CSPP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 21, MIM# 615636 MONDO:0014288 Tags
Green Green List (high evidence)	DCDC2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephronophthisis 19, MIM# 616217 Tags
Green Green List (high evidence)	DDX59	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes Orofaciodigital syndrome V (MIM#174300) Tags
Green Green List (high evidence)	DHCR7	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Expert Review Green Phenotypes Smith-Lemli-Opitz syndrome (MIM#270400) Tags
Green Green List (high evidence)	DLG5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Yuksel-Vogel-Bauer syndrome, MIM#620703 Tags
Green Green List (high evidence)	DYNC2H1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091 MONDO:0013127 Tags
Green Green List (high evidence)	DYNC2LI1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 15 with polydactyly (MIM#617088) Tags
Green Green List (high evidence)	EVC	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes Ellis-van Creveld syndrome, MIM# 225500 Tags
Green Green List (high evidence)	EVC2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ellis-van Creveld syndrome (MIM#225500) Tags
Green Green List (high evidence)	EXOC3L2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Brain malformation renal syndrome, MIM# 620943 Tags
Green Green List (high evidence)	FAM149B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Joubert Ciliopathy Tags
Green Green List (high evidence)	FUZ	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ciliopathy_MONDO_0005308, FUZ-related skeletal ciliopathy Tags
Green Green List (high evidence)	GLI3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Greig cephalopolysyndactyly syndrome (MIM#175700) Pallister-Hall syndrome (MIM#146510) Tags
Green Green List (high evidence)	GLIS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephronophthisis 7, OMIM#611498 MONDO:0012680 Tags
Green Green List (high evidence)	HNF1B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Renal cysts and diabetes syndrome, MIM# 137920 Tags SV/CNV
Green Green List (high evidence)	HYLS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Hydrolethalus syndrome (MIM#236680) Tags founder
Green Green List (high evidence)	ICK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Endocrine-cerebroosteodysplasia (MIM#612651) Tags
Green Green List (high evidence)	IFT122	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cranioectodermal dysplasia 1, MIM# 218330 MONDO:0021093 Beemer-Langer syndrome Tags
Green Green List (high evidence)	IFT140	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920 MONDO:0009964 Retinitis pigmentosa 80, MIM# 617781 Cystic Kidney Disease, MONDO: 0002473, IFT140-associated, dominant Tags
Green Green List (high evidence)	IFT172	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 20, MIM# 619471 Retinitis pigmentosa 71, MIM# 616394 Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630 Tags
Green Green List (high evidence)	IFT27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Bardet-Biedl syndrome 19, MIM#615996 Tags
Green Green List (high evidence)	IFT43	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866 Retinitis pigmentosa 81 , MIM#617871 Cranioectodermal dysplasia 3, MIM# 614099 Tags
Green Green List (high evidence)	IFT52	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 16 with or without polydactyly, MIM# 617102 Tags
Green Green List (high evidence)	IFT74	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Bardet-Biedl syndrome 20, MIM# 617119 Joubert syndrome 40, MIM# 619582 Tags
Green Green List (high evidence)	IFT80	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 2 with or without polydactyly, MIM# 611263 MONDO:0012644 Tags
Green Green List (high evidence)	IFT81	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895 Tags
Green Green List (high evidence)	INPP5E	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 1, MIM# 213300 MONDO:0008944 Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156 MONDO:0012423 Tags
Green Green List (high evidence)	INTS13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Oral-facial-digital syndrome, MONDO:0015375, INTS13-related Tags
Green Green List (high evidence)	INTU	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes ?Orofaciodigital syndrome XVII MIM#617926 ?Short-rib thoracic dysplasia 20 with polydactyly MIM#617925 Tags
Green Green List (high evidence)	INVS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephronophthisis 2, infantile, (MIM#602088) Tags
Green Green List (high evidence)	IQCB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Senior-Loken syndrome 5, MIM# 609254 MONDO:0012225 Tags
Green Green List (high evidence)	IQCE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Postaxial polydactyly Tags
Green Green List (high evidence)	KIAA0586	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Joubert syndrome 23 616490 Short-rib thoracic dysplasia 14 with polydactyly 616546 Tags new gene name
Green Green List (high evidence)	KIAA0753	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Orofaciodigital syndrome XV 617127 Joubert syndrome 38, MIM# 619476 Short-rib thoracic dysplasia 21 without polydactyly, MIM# 619479 Tags
Green Green List (high evidence)	KIF7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 12, MIM# 200990 Acrocallosal syndrome, MIM# 200990 MONDO:0008708 Hydrolethalus syndrome 2, MIM# 614120 Tags
Green Green List (high evidence)	LBR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Greenberg skeletal dysplasia, MIM#215140 Tags
Green Green List (high evidence)	LZTFL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 17 (MIM#615994) Tags
Green Green List (high evidence)	MAPKBP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephronophthisis 20, MIM# 617271 MONDO:0014997 Tags
Green Green List (high evidence)	MKKS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 6 (MIM#605231) McKusick-Kaufman syndrome, MIM# 236700 Retinitis pigmentosa Tags
Green Green List (high evidence)	MKS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 28, MIM# 617121 MONDO:0014928 Meckel syndrome 1, MIM# 249000 MONDO:0009571 Bardet-Biedl syndrome 13, MIM# 615990 MONDO:0014441 Tags
Green Green List (high evidence)	NEK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520 Orofaciodigital syndrome II , MIM# 252100 Tags
Green Green List (high evidence)	NEK8	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Renal-hepatic-pancreatic dysplasia 2, MIM# 615415 MONDO:0014174 Polycystic kidney disease 8, MIM# 620903 Tags
Green Green List (high evidence)	NPHP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 4, MIM# 609583 Nephronophthisis 1, juvenile, MIM# 256100 Senior-Loken syndrome-1, MIM# 266900 Tags
Green Green List (high evidence)	NPHP3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephronophthisis 3, MIM# 604387 Renal-hepatic-pancreatic dysplasia 1, MIM# 208540 Meckel syndrome 7, MIM# 267010 Tags
Green Green List (high evidence)	NPHP4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephronophthisis 4, MIM# 606966 Senior-Loken syndrome 4, MIM# 606996 Tags
Green Green List (high evidence)	OFD1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 23, MIM# 300424 Joubert syndrome 10, MIM# 300804 Orofaciodigital syndrome I, MIM# 311200 Tags
Green Green List (high evidence)	PDE6D	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 22, OMIM #615665 Tags
Green Green List (high evidence)	PIBF1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Joubert syndrome 33, OMIM #617767 Tags
Green Green List (high evidence)	PIK3C2A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Oculoskeletodental syndrome 618440 Tags
Green Green List (high evidence)	PKHD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200 Tags
Green Green List (high evidence)	POC1B	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert Review Red Victorian Clinical Genetics Services Phenotypes Cone-rod dystrophy 20 (MIM#615973) Tags
Green Green List (high evidence)	PRKACA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Cardioacrofacial dysplasia 1, MIM# 619142 Postaxial hand polydactyly Postaxial foot polydactyly Common atrium Atrioventricular canal defect Narrow chest Abnormality of the teeth Intellectual disability Tags
Green Green List (high evidence)	PRKACB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Cardioacrofacial dysplasia 2, MIM# 619143 Postaxial hand polydactyly Postaxial foot polydactyly Common atrium Atrioventricular canal defect Narrow chest Abnormality of the teeth Intellectual disability Tags
Green Green List (high evidence)	PSKH1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cholestasis, progressive familial intrahepatic, 13, MIM# 620962 Tags
Green Green List (high evidence)	RAB34	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Orofaciodigital syndrome 20, MIM#620718 Tags
Green Green List (high evidence)	RPGR	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 3 (MIM#300029) Tags
Green Green List (high evidence)	RPGRIP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Leber congenital amaurosis 6 (MIM#613826) Tags
Green Green List (high evidence)	RPGRIP1L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 7, MIM# 611560 Meckel syndrome 5, MIM# 611561 COACH syndrome 3, MIM# 619113 Nephronophthisis Tags
Green Green List (high evidence)	SCAPER	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Phenotypes Intellectual developmental disorder and retinitis pigmentosa, OMIM #618195 Bardet-Biedl syndrome Tags
Green Green List (high evidence)	SCLT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Orofaciodigital syndrome type IX Senior-Loken syndrome Tags
Green Green List (high evidence)	SCNM1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Orofaciodigital syndrome XIX, MIM# 620107 Tags
Green Green List (high evidence)	SDCCAG8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 16, MIM# 615993 MONDO:0014444 Senior-Loken syndrome 7, MIM# 613615 MONDO:0013326 Nephronophthisis Tags
Green Green List (high evidence)	SUFU	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 32, MIM#617757 SUFU-related neurodevelopmental disorder, Joubert-like Tags
Green Green List (high evidence)	TBC1D32	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Orofaciodigital syndrome type IX Tags
Green Green List (high evidence)	TCTEX1D2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405 Tags
Green Green List (high evidence)	TCTN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 13, MIM# 614173 MONDO:0013608 Tags
Green Green List (high evidence)	TCTN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 24, MIM# 616654 MONDO:0014724 Meckel syndrome 8, MIM# 613885 MONDO:0013482 Tags
Green Green List (high evidence)	TCTN3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 18, MIM# 614815 MONDO:0013896 Orofaciodigital syndrome IV, MIM# 258860 Mohr-Majewski syndrome Meckel-Gruber syndrome Tags
Green Green List (high evidence)	TMEM107	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes Meckel syndrome 13 (MIM#617562) Orofaciodigital syndrome XVI (MIM#617563) Joubert syndrome 29 617562 Tags
Green Green List (high evidence)	TMEM138	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 16, MIM# 614465 MONDO:0013764 Tags
Green Green List (high evidence)	TMEM216	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 2, MIM# 608091 MONDO:0011963 Meckel syndrome 2, MIM# 603194 MONDO:0011296 Tags founder UTR
Green Green List (high evidence)	TMEM218	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Joubert syndrome 39, MIM#619562 retinal dystrophy polycystic kidneys occipital encephalocele Tags
Green Green List (high evidence)	TMEM231	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 20, MIM# 614970 MONDO:0013994 Meckel syndrome 11, MIM# 615397 MONDO:0014164 Tags
Green Green List (high evidence)	TMEM237	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 14, MIM# 614424 Tags
Green Green List (high evidence)	TMEM67	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 6, MIM# 610688 Meckel syndrome 3, MIM# 607361 Nephronophthisis 11, MIM# 613550 COACH syndrome 1, MIM# 216360 Tags
Green Green List (high evidence)	TOGARAM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Joubert syndrome 37, MIM# 619185 Tags
Green Green List (high evidence)	TRAF3IP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Senior-Loken syndrome 9, MIM# 616629 MONDO:0014712 Tags
Green Green List (high evidence)	TTC21B	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephronophthisis 12, MIM# 613820 Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819 Joubert syndrome Tags
Green Green List (high evidence)	TTC26	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Biliary, renal, neurologic, and skeletal syndrome, MIM# 619534 Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations Tags
Green Green List (high evidence)	TTC8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 8, MIM# 615985 Tags
Green Green List (high evidence)	TULP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Retinitis pigmentosa 14 M(MIM#600132) Tags
Green Green List (high evidence)	TXNDC15	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes Meckel syndrome 14, MIM# 619879 Tags
Green Green List (high evidence)	UMOD	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glomerulocystic kidney disease with hyperuricemia and isosthenuria (MIM#609886) Hyperuricemic nephropathy, familial juvenile 1 (MIM#162000) Medullary cystic kidney disease 2 (MIM#603860) Tags
Green Green List (high evidence)	WDPCP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 15, MIM# 615992 OFD Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 Tags
Green Green List (high evidence)	WDR19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephronophthisis 13, MIM# 614377 Senior-Loken syndrome 8, MIM# 616307 Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376 Cranioectodermal dysplasia 4, MIM# 614378 Tags
Green Green List (high evidence)	WDR34	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 11 with or without polydactyly, MIM# 615633 Retinitis pigmentosa Tags
Green Green List (high evidence)	WDR35	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cranioectodermal dysplasia 2, MIM#613610 MONDO:0013323 Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091 MONDO:0013569 Tags
Green Green List (high evidence)	WDR44	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Ciliopathy, MONDO:0005308, WDR44-related Tags
Green Green List (high evidence)	WDR60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503 Retinitis pigmentosa Tags
Green Green List (high evidence)	XPNPEP3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephronophthisis-like nephropathy 1, OMIM #613159 Tags
Amber Amber List (moderate evidence)	ADAMTS9	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Nephropathy-related ciliopathy, MONDO:0022409, ADAMTS9-related Tags
Amber Amber List (moderate evidence)	B9D1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Meckel syndrome 9, MIM# 614209 Joubert syndrome 27, MIM# 617120 Tags
Amber Amber List (moderate evidence)	BBIP1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Bardet-Biedl syndrome 18, MIM#615995 Tags
Amber Amber List (moderate evidence)	CCDC28B	2 reviews 1 red	Other	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes {Bardet-Biedl syndrome 1, modifier of}, MIM#209900 Joubert syndrome Tags
Amber Amber List (moderate evidence)	CEP55	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM# 236500 Tags
Amber Amber List (moderate evidence)	GRK2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Jeune asphyxiating thoracic dystrophy (ATD), MONDO:0018770 Tags
Amber Amber List (moderate evidence)	KIF3B	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes hepatic fibrosis retinitis pigmentosa postaxial polydactyly Retinitis pigmentosa 89, MIM#618955 Tags
Amber Amber List (moderate evidence)	PDIA6	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes Tags
Amber Amber List (moderate evidence)	PRKCSH	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Polycystic liver disease 1 (MIM#174050) Tags
Amber Amber List (moderate evidence)	SBDS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Shwachman-Diamond syndrome, MIM# 260400 Tags
Amber Amber List (moderate evidence)	SEC63	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Polycystic liver disease 2 (MIM#617004) Tags
Amber Amber List (moderate evidence)	SLC30A7	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Joubert syndrome (MONDO:0018772), SLC30A7-related Tags
Amber Amber List (moderate evidence)	TAPT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897) Tags
Amber Amber List (moderate evidence)	TOPORS	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes ciliopathy, MONDO:0005308, TOPORS-associated postaxial polydactyly, MONDO:0020927, TOPORS-related multiple lingual hamartomas Tags
Amber Amber List (moderate evidence)	VPS13B	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Cohen syndrome (MIM# 216550) Tags
Amber Amber List (moderate evidence)	ZNF423	3 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Joubert syndrome 19, OMIM# 614844 Nephronophthisis 14, OMIM:614844 Tags
Amber Amber List (moderate evidence)	ZSWIM6	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Amber Phenotypes Acromelic frontonasal dysostosis (MIM#603671) Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, MIM# 617865 Tags
Red Red List (low evidence)	ACVR2B	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Heterotaxy, visceral, 4, autosomal 613751 Tags disputed
Red Red List (low evidence)	ARMC8	2 reviews 2 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	CEP19	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Literature Phenotypes Bardet-Biedl syndorme Tags
Red Red List (low evidence)	CFAP53	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Heterotaxy, visceral, 6, autosomal recessive 614779 Tags
Red Red List (low evidence)	CFC1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Heterotaxy, visceral, 2, autosomal 605376 Tags
Red Red List (low evidence)	CRELD1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Atrioventricular septal defect, partial, with heterotaxy syndrome 606217 Tags
Red Red List (low evidence)	GDF1	2 reviews 1 red	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Congenital heart defects, multiple types, 6 613854 Right atrial isomerism (Ivemark) 208530 Tags
Red Red List (low evidence)	MUC1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Medullary cystic kidney disease 1 (MIM#174000) Tags
Red Red List (low evidence)	NODAL	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Heterotaxy, visceral, 5 (MIM#270100) Tags disputed
Red Red List (low evidence)	PMM2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Phenotypes Congenital disorder of glycosylation, type Ia (MIM#212065) Tags
Red Red List (low evidence)	SCNN1G	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Phenotypes Bronchiectasis with or without elevated sweat chloride 3 (MIM#613071) Liddle syndrome 2 (MIM#618114) Pseudohypoaldosteronism, type I (MIM#264350) Tags
Red Red List (low evidence)	TRIM32	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 11, MIM# 615988 Tags
Red Red List (low evidence)	WDR81	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Victorian Clinical Genetics Services Phenotypes Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 610185 Hydrocephalus, congenital, 3, with brain anomalies 617967 Tags
Red Red List (low evidence)	ZIC3	2 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Heterotaxy, visceral, 1, X-linked (MIM#306955) Tags

Major version comments

2021-07-07 08:44 Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics) promoted panel to 1.0
Fully reviewed and promoted to V1.

Ciliopathies (Version 1.62)

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