Ciliopathy Panel Test code: KI0701 Is a 107 gene panel that includes assessment of non-coding variants. Is ideal for patients with a clinical suspicion of Bardet-Biedl syndrome, Joubert syndrome, Meckel syndrome, nephronophthisis with or without retinal dystrophy, or complex ciliopathy phenotype. Isn’t ideal for a patient with primary ciliary dyskinesia or isomerism/heterotaxy. For patients with a suspicion of primary ciliary dyskinesia, Primary Ciliary Dyskinesia Panel is recommended. For patients with isomerism/heterotaxy, Heterotaxy and Situs Inversus Panel is recommended. About Ciliopathy Ciliopathies are a group of disorders resulting from either abnormal formation or function of cilia. Mutations in ciliary gene are known to cause single organ phenotypes, as well as complex syndromes. Ciliopathies have a broad range of phenotypes encompassing a number of different autosomal recessive, dominant and X-linked syndromes. As cilia are a component of almost all cells, ciliary dysfunction can manifest as a collection of features that include retinal degeneration, renal disease and brain malformations. Additional features may include congenital fibrocystic diseases of the liver and pancreas, diabetes, obesity and skeletal dysplasias. Ciliopathies can result from a mutation at a single locus in one patient while mutations affecting a number of different loci can, at the same time, can result in a similar phenotype in other patients. Ciliopathies can be classified according to whether there is aberrant function in an intact cilium or complete absence/loss of the mature cilium. The latter is the case with severe multi-organ phenotypes. Availability 4 weeks Gene Set Description Genes in the Ciliopathy Panel and their clinical significance Gene Associated phenotypes Inheritance ClinVar HGMD ACVR2B Heterotaxy, visceral, 4, autosomal AD 1 2 AHI1 Joubert syndrome AR 62 93 ALMS1* Alström syndrome AR 197 302 ANKS6 Nephronophthisis AR 9 12 ARL13B Joubert syndrome AR 11 10 ARL6 Bardet-Biedl syndrome, Retinitis pigmentosa AR 14 21 ARMC9 Joubert syndrome 30 AR 12 11 B9D1 Meckel syndrome AR 7 10 B9D2 Meckel syndrome AR 8 4 BBIP1# Bardet-Biedl syndrome 18 AR 1 1 BBS1 Bardet-Biedl syndrome AR 66 103 https://blueprintgenetics.com/ BBS10 Bardet-Biedl syndrome AR 90 107 BBS12 Bardet-Biedl syndrome AR 36 58 BBS2 Bardet-Biedl syndrome, Retinitis pigmentosa AR 58 91 BBS4 Bardet-Biedl syndrome AR 25 53 BBS5 Bardet-Biedl syndrome AR 18 31 BBS7 Bardet-Biedl syndrome AR 19 43 BBS9 Bardet-Biedl syndrome AR 27 52 C21ORF2 Retinal dystrophy with or without macular staphyloma (RDMS), AR 13 22 Spondylometaphyseal dysplasia, axial (SMDAX) C2CD3 Orofaciodigital syndrome XIV AR 9 10 C5ORF42 Orofaciodigital syndrome, Joubert syndrome AR 97 103 C8ORF37 Retinitis pigmentosa, Cone rod dystrophy, Bardet-Biedl syndrome 21 AR 8 17 CC2D2A COACH syndrome, Joubert syndrome, Meckel syndrome AR 76 91 CENPF Ciliary dyskinesia -Lethal Ciliopathy AR 13 8 CEP104 Joubert syndrome AR 7 5 CEP120 Short-rib thoracic dysplasia 13 with or without polydactyly AR 9 9 CEP164 Nephronophthisis AR 11 9 CEP19 Morbid obesity and spermatogenic failure, Bardet-Biedl syndrome AR 2 2 CEP290* Bardet-Biedl syndrome, Leber congenital amaurosis, Joubert syndrome, AR 130 289 Senior-Loken syndrome, Meckel syndrome CEP41 Joubert syndrome AR/Digenic 7 11 CEP83 Nephronophthisis AR 10 10 CPE Obesity, severe, and type II diabetes AR 2 CRB2 Focal segmental glomerulosclerosis, Ventriculomegaly with cystic kidney AR 12 22 disease CSPP1 Jeune asphyxiating thoracic dystrophy, Joubert syndrome AR 32 27 DCDC2 Deafness, Nephronophthisis, Sclerosing cholangitis, neonatal AR 13 9 DDX59 Orofaciodigital syndrome V AR 2 6 DHCR7 Smith-Lemli-Opitz syndrome AR 88 217 DYNC2H1 Short -rib thoracic dysplasia with or without polydactyly type 1, Short -rib AR/Digenic 148 205 thoracic dysplasia with or without polydactyly type 3, Asphyxiating thoracic dysplasia (ATD; Jeune), SRPS type 2 (Majewski) DYNC2LI1 Short-rib throacic dysplasia 15 with polydactyly AR 19 14 https://blueprintgenetics.com/ EVC Weyers acrofacial dysostosis, Ellis-van Creveld syndrome AD/AR 58 83 EVC2 Ellis-van Creveld syndrome, Weyers acrodental dysostosis AD/AR 78 75 FAM58A Toe syndactyly, telecanthus, and anogenital and renal malformations XL 8 11 (STAR syndrome) GLI2 Culler-Jones syndrome AD 29 82 GLI3 Acrocallosal syndrome, Pallister-Hall syndrome, Grieg AD 70 235 cephalopolysndactyly syndrome, Postaxial polydactyly type A, Preaxial polydactyly type 3, Preaxial polydactyly type 4 GLIS2 Nephronophthisis AR 3 3 HYLS1 Hydrolethalus syndrome AR 3 2 IFT122* Sensenbrenner syndrome, Cranioectodermal dysplasia (Levin- AR 13 23 Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2 IFT140 Short -rib thoracic dysplasia with or without polydactyly, Asphyxiating AR 38 63 thoracic dysplasia (ATD; Jeune) IFT172 Retinitis pigmentosa, Short -rib thoracic dysplasia with or without AR 22 25 polydactyly, Asphyxiating thoracic dysplasia (ATD; Jeune) IFT27 Bardet Biedl syndrome 19 AR 1 4 IFT43 Cranioectodermal dysplasia 3 AR 4 7 IFT52 Short-rib thoracic dysplasia 16 with or without polydactyly AR 3 4 IFT80 Short -rib thoracic dysplasia with or without polydactyly, Asphyxiating AR 11 11 thoracic dysplasia (ATD; Jeune) IFT81 Short rib thoracic dysplasia with polydactyly, Cone-Rod dystrophy, AR 4 9 autosomal recessive INPP5E Joubert syndrome, Mental retardation, truncal obesity, retinal dystrophy, AR 25 50 and micropenis (MORM syndrome) INVS Nephronophthisis AR 16 34 IQCB1 Senior-Loken syndrome AR 24 41 KIAA0556 Joubert syndrome 26 AR 2 2 KIAA0586 Short rib thoracic dysplasia with polydactyly, Joubert syndrome AR 29 31 KIAA0753 Orofaciodigital syndrome XV AR 6 7 KIF14 Meckel syndrome 12 AR 9 16 KIF7 Acrocallosal syndrome, Hydrolethalus syndrome, Al-Gazali-Bakalinova AR/Digenic 24 44 syndrome, Joubert syndrome LEFTY2* Left-right axis malformations AD 1 3 LZTFL1 Bardet-Biedl syndrome 17 AR 6 3 https://blueprintgenetics.com/ MAPKBP1 Nephronophthisis 20 AR 6 7 MKKS Bardet-Biedl syndrome, McKusick-Kaufman syndrome AR 21 59 MKS1 Bardet-Biedl syndrome, Meckel syndrome AR 50 52 NEK1 Short -rib thoracic dysplasia with or without polydactyly, SRPS type 2 AR/Digenic 22 23 (Majewski) NEK8 Nephronophthisis AR 16 18 NODAL Heterotaxy, visceral AD 4 15 NPHP1 Nephronophthisis, Joubert syndrome, Senior-Loken syndrome AR 19 76 NPHP3 Nephronophthisis, Renal-hepatic-pancreatic dysplasia, Meckel syndrome AR 38 75 NPHP4 Nephronophthisis, Senior-Loken syndrome AR 20 113 OFD1 Simpson-Golabi-Behmel syndrome, Retinitis pigmentosa, Orofaciodigital XL 153 160 syndrome, Joubert syndrome PDE6D Joubert syndrome 22 AR 3 1 PKD1* Polycystic kidney disease AD 237 1923 PKD2 Polycystic kidney disease AD 55 333 PKHD1 Polycystic kidney disease AR 249 557 PMM2 Congenital disorder of glycosylation AR 76 128 PNPLA6 Laurence-Moon syndrome, Boucher-Neuhauser syndrome, Spastic AR 26 58 paraplegia 39 POC1B Cone-rod dystrophy 20 AR 4 7 RPGRIP1L COACH syndrome, Joubert syndrome, Meckel syndrome, Retinal AR 39 49 degeneration in ciliopathy, modifier SCAPER Retinal dystrophy, Retinitis pigmentosa, Intellectual disability, Bardet-Biedl AR 4 7 syndrome SCLT1 Senior-Loken syndrome, Retinal dystrophy 3 SDCCAG8 Bardet-Biedl syndrome, Senior-Loken syndrome AR 14 18 TCTEX1D2 Short-rib thoracic dysplasia 17 with or without polydactyly, Jeune AR 4 6 Asphyxiating Thoracic Dystrophy TCTN1 Joubert syndrome AR 6 6 TCTN2 Joubert syndrome, Meckel syndrome AR 20 15 TCTN3 Orofaciodigital syndrome (Mohr-Majewski syndrome), Joubert syndrome AR 9 12 TMEM107 Joubert syndrome AR 10 3 TMEM138 Joubert syndrome AR 6 8 TMEM216 Joubert syndrome, Meckel syndrome AR 17 8 https://blueprintgenetics.com/ TMEM231 Joubert syndrome, Meckel syndrome AR 12 19 TMEM237 Joubert syndrome AR 7 11 TMEM67 Nephronophthisis, COACH syndrome, Joubert syndrome, Meckel AR 87 170 syndrome TRAF3IP1 Senior-Loken syndrome 9 AR 11 15 TRIM32 Bardet-Biedl syndrome, Muscular dystrophy, limb-girdle AR 13 16 TTC21B Short-rib thoracic dysplasia, Nephronophthisis, Asphyxiating thoracic AR 23 63 dysplasia (ATD; Jeune) TTC8 Bardet-Biedl syndrome, Retinitis pigmentosa AR 5 16 USP9X Mental retardation, X-linked 99, Mental retardation, X-linked 99, XL 30 27 syndromic, female restricted WDPCP Meckel-Gruber syndrome, modifier, Bardet-Biedl syndrome, Congenital AR 6 8 heart defects, hamartomas of tongue, and polysyndactyly WDR19 Retinitis pigmentosa, Nephronophthisis, Short -rib thoracic dysplasia with AR 33 43 or without polydactyly, Senior-Loken syndrome, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Asphyxiating thoracic dysplasia (ATD; Jeune) WDR34 Short -rib thoracic dysplasia with or without polydactyly, Asphyxiating AR 18 21 thoracic dysplasia (ATD; Jeune) WDR35 Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, AR 28 31 Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Short rib- polydactyly syndrome type 5 WDR60 Short-rib thoracic dysplasia 8 with or without polydactyly AR 12 13 ZIC3 Heterotaxy, visceral, VACTERL association, Congenital heart defects, XL 15 41 nonsyndromic ZNF423 Nephronophthisis, Joubert syndrome AD/AR 10 7 *Some regions of the gene are duplicated in the genome. Read more. # The gene has suboptimal coverage (means <90% of the gene’s target nucleotides are covered at >20x with mapping quality score (MQ>20) reads), and/or the gene has exons listed under Test limitations section that are not included in the panel as they are not sufficiently covered with high quality