List of diseases covered by
Ciliopathy NGS panel

Gene Condition
ACVR2B Heterotaxy, visceral, 4, autosomal
ADGRV1 Febrile seizures, familial, 4;
Usher syndrome, type 2C
AHI1 Joubert syndrome 3
AIPL1 Leber congenital amaurosis 4
ALMS1 Alstrom syndrome
ANKS6 Nephronophthisis 16
ARL13B Joubert syndrome 8
ARL6 Retinitis pigmentosa 55;
Bardet-Biedl syndrome 3
ARMC4 Ciliary dyskinesia, primary, 23
ATXN10 Spinocerebellar ataxia 10
B9D1 Joubert syndrome 27; Meckel syndrome 9
B9D2 Joubert syndrome 34
BBS1 Bardet-Biedl syndrome 1
BBS10 Bardet-Biedl syndrome 10
BBS12 Bardet-Biedl syndrome 12
BBS2 Bardet-Biedl syndrome 2;
Retinitis pigmentosa 74
BBS4 Bardet-Biedl syndrome 4
BBS5 Bardet-Biedl syndrome 5
BBS7 Bardet-Biedl syndrome 7
BBS9 Bardet-Biedl syndrome 9
C2CD3 Orofaciodigital syndrome XIV
C2ORF71 Retinitis pigmentosa 54
C5ORF42 Joubert syndrome 17;
Orofaciodigital syndrome VI
C8ORF37 Bardet-Biedl syndrome 21;
Retinitis pigmentosa 64
C21ORF2 Retinal dystrophy
with macular staphyloma;
Spondylometaphyseal dysplasia, axial
CC2D2A COACH syndrome, Joubert syndrome 9,
Meckel syndrome 6
CCDC103 Ciliary dyskinesia, primary, 17
CCDC114 Ciliary dyskinesia, primary, 20
CCDC151 Ciliary dyskinesia, primary, 30
CCDC28B Bardet-Biedl syndrome 1, modifier of
CCDC39 Ciliary dyskinesia, primary, 14
CCDC40 Ciliary dyskinesia, primary, 15
CCDC65 Ciliary dyskinesia, primary, 27
CCNO Ciliary dyskinesia, primary, 29
CDH23 Deafness, autosomal recessive 12;
Usher syndrome, type 1D;
CFAP298 Ciliary dyskinesia, primary, 26
CEP104 Joubert syndrome 25
CEP120 Joubert syndrome 31;
Short-rib thoracic dysplasia 13 with or without polydactyly
CEP164 Nephronophthisis 15
CEP290 Bardet-Biedl syndrome 14;
Joubert syndrome 5; Leber congenital amaurosis 10; Meckel syndrome 4;
Senior-Loken syndrome 6
CEP41 Joubert syndrome 15
CEP83 Nephronophthisis 18
CFTR Cystic fibrosis;
Congenital bilateral absence of vas deferens
CLRN1 Retinitis pigmentosa 61;
Usher syndrome, type 3A
COMP Pseudoachondroplasia;
Epiphyseal dysplasia, multiple, 1
CRB1 Leber congenital amaurosis 8;
Pigmented paravenous chorioretinal atrophy; Retinitis pigmentosa-12
CSPP1 Joubert syndrome 21
DCDC2 Deafness, autosomal recessive 66;
Nephronophthisis 19; Sclerosing cholangitis, neonatal
DNAAF1 Ciliary dyskinesia, primary, 13
DNAAF2 Ciliary dyskinesia, primary, 10
DNAAF3 Ciliary dyskinesia, primary, 2
DNAAF4 Ciliary dyskinesia, primary, 25
DNAAF5 Ciliary dyskinesia, primary, 18
DNAH1 Ciliary dyskinesia, primary, 37;
Spermatogenic failure 18
DNAH11 Ciliary dyskinesia, primary, 7,
with or without situs inversus
DNAH5 Ciliary dyskinesia, primary, 3,
with or without situs inversus
DNAI1 Ciliary dyskinesia, primary, 1,
with or without situs inversus
DNAI2 Ciliary dyskinesia, primary, 9,
with or without situs inversus
DNAL1 Ciliary dyskinesia, primary, 16
DRC1 Ciliary dyskinesia, primary, 21
DYNC2H1 Short-rib thoracic dysplasia 3 with or without polydactyly
EVC Ellis-van Creveld syndrome; Weyers acrofacial dysostosis
EVC2 Ellis-van Creveld syndrome; Weyers acrofacial dysostosis
GAS8 Ciliary dyskinesia, primary, 33
GDF1 Congenital heart defects, multiple types, 6;
Right atrial isomerism (Ivemark)
GLIS2 Nephronophthisis 7
IFT43 Short-rib thoracic dysplasia 18 with polydactyly;
Cranioectodermal dysplasia 3
IFT80 Short-rib thoracic dysplasia 2 with or without polydactyly
IFT122 Cranioectodermal dysplasia 1
IFT140 Short-rib thoracic dysplasia 9 with or without polydactyly
IFT172 Short-rib thoracic dysplasia 10 with or without polydactyly
INPP5E Joubert syndrome 1;
Mental retardation, truncal obesity, retinal dystrophy, and micropenis
INVS Nephronophthisis 2, infantile
IQCB1 Senior-Loken syndrome 5
KIAA0586 Joubert syndrome 23;
Short-rib thoracic dysplasia 14 with polydactyly
KIF7 Joubert syndrome 12
LRRC6 Ciliary dyskinesia, primary, 19
MKKS Bardet-Biedl syndrome 6;
McKusick-Kaufman syndrome
MKS1 Bardet-Biedl syndrome 13; Joubert syndrome 28;
Meckel syndrome 1
NEK1 Short-rib thoracic dysplasia 6 with or without polydactyly
NEK8 Renal-hepatic-pancreatic dysplasia 2;
Nephronophthisis 9
NME8 Ciliary dyskinesia, primary, 6
NODAL Heterotaxy, visceral, 5
NPHP1 Joubert syndrome 4;
Nephronophthisis 1, juvenile; Senior-Loken syndrome-1
NPHP3 Meckel syndrome 7; Nephronophthisis 3;
Renal-hepatic-pancreatic dysplasia 1
NPHP4 Senior-Loken syndrome 4
OFD1 Joubert syndrome 10;
Orofaciodigital syndrome I; Simpson-Golabi-Behmel syndrome, type 2;
Retinitis pigmentosa 23
PDE6D Joubert syndrome 22
PKD2 Polycystic kidney disease 2
PKHD1 Polycystic kidney disease 4,
with or without hepatic disease
RPGR Cone-rod dystrophy, X-linked, 1;
Macular degeneration, X-linked atrophic; Retinitis pigmentosa 3;
Retinitis pigmentosa, X-linked, and sinorespiratory infections,
with or without deafness
RPGRIP1 Cone-rod dystrophy 13;
Leber congenital amaurosis 6
RPGRIP1L COACH syndrome; Joubert syndrome 7;
Meckel syndrome 5
RSPH1 Ciliary dyskinesia, primary, 24
RSPH3 Ciliary dyskinesia, primary, 32
RSPH4A Ciliary dyskinesia, primary, 11
RSPH9 Ciliary dyskinesia, primary, 12
SDCCAG8 Bardet-Biedl syndrome 16;
Senior-Loken syndrome 7
SPAG1 Ciliary dyskinesia, primary, 28
TCTN1 Joubert syndrome 13
TCTN2 Meckel syndrome 8; Joubert syndrome 24
TCTN3 Joubert syndrome 18;
Orofaciodigital syndrome IV
TMEM138 Joubert syndrome 16
TMEM216 Joubert syndrome 2; Meckel syndrome 2
TMEM231 Joubert syndrome 20; Meckel syndrome 11
TMEM237 Joubert syndrome 14
TMEM67 RHYNS syndrome; COACH syndrome;
Joubert syndrome 6; Meckel syndrome 3; Nephronophthisis 11
TOPORS Retinitis pigmentosa 31
TRIM32 Bardet-Biedl syndrome 11;
Muscular dystrophy, limb-girdle, autosomal recessive 8
TTC21B Short-rib thoracic dysplasia 4 with or without polydactyly;
Nephronophthisis 12
TTC8 Retinitis pigmentosa 51;
Bardet-Biedl syndrome 8
WDPCP Bardet-Biedl syndrome 15;
Congenital heart defects, hamartomas of tongue, and polysyndactyly
WDR19 Senior-Loken syndrome 8; Nephronophthisis 13;
Short-rib thoracic dysplasia 5 with or without polydactyly;
Cranioectodermal dysplasia 4
WDR34 Short-rib thoracic dysplasia 11 with or without polydactyly
WDR35 Short-rib thoracic dysplasia 7 with or without polydactyly;
Cranioectodermal dysplasia 2
WDR60 Short-rib thoracic dysplasia 8 with or without polydactyly
XPNPEP3 Nephronophthisis-like nephropathy 1
ZIC3 Congenital heart defects,
nonsyndromic, 1, X-linked; VACTERL association, X-linked
ZMYND10 Ciliary dyskinesia, primary, 22
ZNF423 Joubert syndrome 19