Table 1

Anonymised phenotypic and research molecular diagnosis data for the probands in the congenital malformations caused by ciliopathies cohort

Research numberRecruitment categoryMost likely clinical diagnosis based on HPO termsDoes recruitment category match most likely clinical diagnosis?GEL GMC exit reportResearch molecular diagnosisGeneIs identified diagnosis a ciliopathy?Diagnostic confidence
1JBTSJBTSYesSolCHARGE SynCHD7NoConf
2BBSNon-cil MS condNoSolAlström SynALMS1YesConf
3BBSBBSYesSolBBS +RPARL6 +IMPG2YesConf
4BBSBBSYesSolRPRPGRYesConf
5BBSNon-cil MS condNoSolRetinal cil, possibly syndromicCEP290YesConf
6JBTSJBTSYesSolJBTSKIAA0586YesConf
7RMCDOFD-like cilYesSolOFD1, PKD +inherited cataractOFD1, PKD1, CRYBB1Yes (OFD1)OFD1 Conf, PKD1 +CRYYB1 Poss
8BBSIsol RDNoSolRPPRPF8NoConf
9RMCDJBTS-like MS cilYesUnsSeckel SynCEP152NoPoss
10JBTSJBTSYesSolJBTSCEP290YesConf
11RMCDJeune-like cilYesUnrFeingold SynMYCNNoConf
12JBTSJBTSYesUnrJBTSARMC9YesConf
13BBSBBSYesUnrTubulinopathyTUBA1ANoPoss
14RMCDJeune-like cilYesUnrJeune SynWDR19YesConf
15BBSIsol RDNoUnrRPRHONoConf
16RMCDNon-cil MS condNoVUSSTAG1 syndromic ID synSTAG1NoProb
17BBSBBSYesSolBBSBBS1YesConf
18BBSBBSYesSolNeurodevelopmental disorderRERENoConf
19BBSBBSYesSolAlström SynALMS1YesConf
20BBSIsol eye cond (not RD)NoSolBBSBBS2YesConf
21JBTSJBTSYesUnrPoretti-Boltshauser Syn+Arboleda Tham SynLAMA1, KAT6ANoLAMA1 Prob, KAT6A Poss
22BBSBBSYesSolBBSMKKSYesConf
23JBTSJBTSYesSolJBTSCEP290YesProb
24BBSNon-cil MS condNoUnsUns
25BBSBBSYesSolSmith Magenis SynRAI1NoConf
26BBSBBSYesSolCone-rod dystrophyPROM1NoConf
27JBTSNon-cil MS condNoUnrLuscan-Lumish SynSETD2NoConf
28BBSNon-cil MS condNoSolOptic AtrophyOPA1NoConf
29BBSNon-cil MS condNoSolAlström SynALMS1YesConf
30BBSBBSYesSolChung-Jansen SynPHIPNoConf
31BBSIsol RDNoSolCone-rod dystrophyRAB28YesConf
32BBSBBSYesSolNone: UnsolvedALMS1N/aFalse+ve
33RMCDNon-cil MS condNoUnsUns
34RMCDNon-cil MS condNoUnsVan Esch-O'Driscoll SynPOLA1NoPoss
35JBTSJBTSYesUnsUns
36JBTSJBTSYesUnsUns
37RMCDNon-cil MS condNoUnsUns
38BBSBBSYesUnsUns
39BBSBBSYesUnsUns
40BBSBBSYesUnsUns
41JBTSJBTSYesUnsJBTSCSPP1YesProb
42JBTSJBTSYesUnrJBTSPIBF1YesProb
43BBSBBSYesUnsUns
44RMCDNon-cil MS condNoUnsUns
45BBSIsol polydactylyNoUnsUns
46RMCDMKS/JBTS-like MS cilYesUnsUns
47BBSNon-cil MS condNoUnrUns
48RMCDBBS-like MS cilYesUnsCandidate cilLRRC45CandidatePoss
49RMCDNon-cil MS condNoUnrUns
50BBSBBSYesUnrUns
51RMCDDMDMUnrUns
52RMCDJBTS-like MS cilYesUnrUns
53RMCDIsol GI disorderNoUnrUns
54RMCDNon-cil MS condNoUnsUns
55JBTSJBTSYesUnsUns
56BBSIsol eye cond (not RD)NoVUSBBSBBS9YesPoss
57JBTSJBTSYesUnsUns
58RMCDJBTS-like MS cilYesUnsUns
59BBSBBSYesUnsUns
60BBSBBSYesUnsUns
61RMCDNon-cil MS condNoUnrWT1-related disorderWT1NoConf
62RMCDNon-cil MS condNoUnsUns
63RMCDNon-cil MS condNoUnsUns
64RMCDJBTS-like MS cilYesUnsUns
65BBSBBSYesUnsUns
66RMCDBBS-like MS cilYesUnsUns
67BBSNon-cil MS condNoVUSAlström SynALMS1YesPoss
68JBTSJBTSYesUnsUns
69BBSBBSYesSolBBSBBS1YesConf
70BBSNon-cil MS condNoUnsUns
71RMCDNon-cil MS condNoUnrShukla-Vernon SynBCORL1NoPoss
72BBSBBSYesUnrSifrim-Hitz-Weiss SynCHD4NoPoss
73RMCDIsol GI disorderNoUnsUns
74BBSNon-cil MS condNoUnsUns
75BBSDMDMUnrBBSBBS4YesPoss
76BBSBBSYesVUSBBSBBS10YesPoss
77BBSBBSYesUnsUns
78BBSBBSYesUnsUns
79BBSBBSYesUnsUns
80BBSBBSYesUnsUns
81BBSBBSYesUnsUns
82BBSNon-cil MS condNoUnrAttenuated mucopolysaccharidosis 1IDUANoProb
83BBSBBSYesUnsUns
  • Table includes the recruitment category, designated ‘most likely’ clinical diagnosis based on entered HPO terms alone, GEL GMC exit questionnaire reporting outcome, research molecular diagnosis (determined by genotype), responsible gene, whether the identified diagnosis is a ciliopathy and diagnostic confidence. Note: individual variant information, including data taken into consideration in forming ACMG classifications, can be found in online supplemental table 4.

  • BBS, Bardet-Biedl syndrome; Cil, ciliopathy; Cond, condition; Conf, confident; DM, data missing; GEL, Genomics England; GI, gastrointestinal; GMC, Genomic Medicine Centres; HPO, Human Phenotype Ontology; Isol, isolated; JBTS, Joubert syndrome; MKS, Meckel Gruber syndrome; MS, multisystemic; PKD, polycystic kidney disease; Poss, possible; Prob, probable; RD, retinal dystrophy; RMCD, rare multisystem ciliopathy disorders; RP, retinitis pigmentosa; Sol, solved; Syn, syndrome; Unr, unreported; Uns, unsolved.