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 Syn CHD7 NoConf
2BBSNon-cil MS condNoSolAlström Syn ALMS1 YesConf
3BBSBBSYesSolBBS +RP ARL6 +IMPG2 YesConf
4BBSBBSYesSolRP RPGR YesConf
5BBSNon-cil MS condNoSolRetinal cil, possibly syndromic CEP290 YesConf
6JBTSJBTSYesSolJBTS KIAA0586 YesConf
7RMCDOFD-like cilYesSolOFD1, PKD +inherited cataract OFD1, PKD1, CRYBB1 Yes (OFD1) OFD1 Conf, PKD1 +CRYYB1 Poss
8BBSIsol RDNoSolRP PRPF8 NoConf
9RMCDJBTS-like MS cilYesUnsSeckel Syn CEP152 NoPoss
10JBTSJBTSYesSolJBTS CEP290 YesConf
11RMCDJeune-like cilYesUnrFeingold Syn MYCN NoConf
12JBTSJBTSYesUnrJBTS ARMC9 YesConf
13BBSBBSYesUnrTubulinopathy TUBA1A NoPoss
14RMCDJeune-like cilYesUnrJeune Syn WDR19 YesConf
15BBSIsol RDNoUnrRP RHO NoConf
16RMCDNon-cil MS condNoVUSSTAG1 syndromic ID syn STAG1 NoProb
17BBSBBSYesSolBBS BBS1 YesConf
18BBSBBSYesSolNeurodevelopmental disorder RERE NoConf
19BBSBBSYesSolAlström Syn ALMS1 YesConf
20BBSIsol eye cond (not RD)NoSolBBS BBS2 YesConf
21JBTSJBTSYesUnrPoretti-Boltshauser Syn+Arboleda Tham Syn LAMA1, KAT6A No LAMA1 Prob, KAT6A Poss
22BBSBBSYesSolBBS MKKS YesConf
23JBTSJBTSYesSolJBTS CEP290 YesProb
24BBSNon-cil MS condNoUnsUns
25BBSBBSYesSolSmith Magenis Syn RAI1 NoConf
26BBSBBSYesSolCone-rod dystrophy PROM1 NoConf
27JBTSNon-cil MS condNoUnrLuscan-Lumish Syn SETD2 NoConf
28BBSNon-cil MS condNoSolOptic Atrophy OPA1 NoConf
29BBSNon-cil MS condNoSolAlström Syn ALMS1 YesConf
30BBSBBSYesSolChung-Jansen Syn PHIP NoConf
31BBSIsol RDNoSolCone-rod dystrophy RAB28 YesConf
32BBSBBSYesSolNone: Unsolved ALMS1 N/aFalse+ve
33RMCDNon-cil MS condNoUnsUns
34RMCDNon-cil MS condNoUnsVan Esch-O'Driscoll Syn POLA1 NoPoss
35JBTSJBTSYesUnsUns
36JBTSJBTSYesUnsUns
37RMCDNon-cil MS condNoUnsUns
38BBSBBSYesUnsUns
39BBSBBSYesUnsUns
40BBSBBSYesUnsUns
41JBTSJBTSYesUnsJBTS CSPP1 YesProb
42JBTSJBTSYesUnrJBTS PIBF1 YesProb
43BBSBBSYesUnsUns
44RMCDNon-cil MS condNoUnsUns
45BBSIsol polydactylyNoUnsUns
46RMCDMKS/JBTS-like MS cilYesUnsUns
47BBSNon-cil MS condNoUnrUns
48RMCDBBS-like MS cilYesUnsCandidate cil LRRC45 CandidatePoss
49RMCDNon-cil MS condNoUnrUns
50BBSBBSYesUnrUns
51RMCDDMDMUnrUns
52RMCDJBTS-like MS cilYesUnrUns
53RMCDIsol GI disorderNoUnrUns
54RMCDNon-cil MS condNoUnsUns
55JBTSJBTSYesUnsUns
56BBSIsol eye cond (not RD)NoVUSBBS BBS9 YesPoss
57JBTSJBTSYesUnsUns
58RMCDJBTS-like MS cilYesUnsUns
59BBSBBSYesUnsUns
60BBSBBSYesUnsUns
61RMCDNon-cil MS condNoUnrWT1-related disorder WT1 NoConf
62RMCDNon-cil MS condNoUnsUns
63RMCDNon-cil MS condNoUnsUns
64RMCDJBTS-like MS cilYesUnsUns
65BBSBBSYesUnsUns
66RMCDBBS-like MS cilYesUnsUns
67BBSNon-cil MS condNoVUSAlström Syn ALMS1 YesPoss
68JBTSJBTSYesUnsUns
69BBSBBSYesSolBBS BBS1 YesConf
70BBSNon-cil MS condNoUnsUns
71RMCDNon-cil MS condNoUnrShukla-Vernon Syn BCORL1 NoPoss
72BBSBBSYesUnrSifrim-Hitz-Weiss Syn CHD4 NoPoss
73RMCDIsol GI disorderNoUnsUns
74BBSNon-cil MS condNoUnsUns
75BBSDMDMUnrBBS BBS4 YesPoss
76BBSBBSYesVUSBBS BBS10 YesPoss
77BBSBBSYesUnsUns
78BBSBBSYesUnsUns
79BBSBBSYesUnsUns
80BBSBBSYesUnsUns
81BBSBBSYesUnsUns
82BBSNon-cil MS condNoUnrAttenuated mucopolysaccharidosis 1 IDUA NoProb
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.