Anonymised phenotypic and research molecular diagnosis data for the probands in the congenital malformations caused by ciliopathies cohort
Research number | Recruitment category | Most likely clinical diagnosis based on HPO terms | Does recruitment category match most likely clinical diagnosis? | GEL GMC exit report | Research molecular diagnosis | Gene | Is identified diagnosis a ciliopathy? | Diagnostic confidence |
1 | JBTS | JBTS | Yes | Sol | CHARGE Syn | CHD7 | No | Conf |
2 | BBS | Non-cil MS cond | No | Sol | Alström Syn | ALMS1 | Yes | Conf |
3 | BBS | BBS | Yes | Sol | BBS +RP | ARL6 +IMPG2 | Yes | Conf |
4 | BBS | BBS | Yes | Sol | RP | RPGR | Yes | Conf |
5 | BBS | Non-cil MS cond | No | Sol | Retinal cil, possibly syndromic | CEP290 | Yes | Conf |
6 | JBTS | JBTS | Yes | Sol | JBTS | KIAA0586 | Yes | Conf |
7 | RMCD | OFD-like cil | Yes | Sol | OFD1, PKD +inherited cataract | OFD1, PKD1, CRYBB1 | Yes (OFD1) | OFD1 Conf, PKD1 +CRYYB1 Poss |
8 | BBS | Isol RD | No | Sol | RP | PRPF8 | No | Conf |
9 | RMCD | JBTS-like MS cil | Yes | Uns | Seckel Syn | CEP152 | No | Poss |
10 | JBTS | JBTS | Yes | Sol | JBTS | CEP290 | Yes | Conf |
11 | RMCD | Jeune-like cil | Yes | Unr | Feingold Syn | MYCN | No | Conf |
12 | JBTS | JBTS | Yes | Unr | JBTS | ARMC9 | Yes | Conf |
13 | BBS | BBS | Yes | Unr | Tubulinopathy | TUBA1A | No | Poss |
14 | RMCD | Jeune-like cil | Yes | Unr | Jeune Syn | WDR19 | Yes | Conf |
15 | BBS | Isol RD | No | Unr | RP | RHO | No | Conf |
16 | RMCD | Non-cil MS cond | No | VUS | STAG1 syndromic ID syn | STAG1 | No | Prob |
17 | BBS | BBS | Yes | Sol | BBS | BBS1 | Yes | Conf |
18 | BBS | BBS | Yes | Sol | Neurodevelopmental disorder | RERE | No | Conf |
19 | BBS | BBS | Yes | Sol | Alström Syn | ALMS1 | Yes | Conf |
20 | BBS | Isol eye cond (not RD) | No | Sol | BBS | BBS2 | Yes | Conf |
21 | JBTS | JBTS | Yes | Unr | Poretti-Boltshauser Syn+Arboleda Tham Syn | LAMA1, KAT6A | No | LAMA1 Prob, KAT6A Poss |
22 | BBS | BBS | Yes | Sol | BBS | MKKS | Yes | Conf |
23 | JBTS | JBTS | Yes | Sol | JBTS | CEP290 | Yes | Prob |
24 | BBS | Non-cil MS cond | No | Uns | Uns | |||
25 | BBS | BBS | Yes | Sol | Smith Magenis Syn | RAI1 | No | Conf |
26 | BBS | BBS | Yes | Sol | Cone-rod dystrophy | PROM1 | No | Conf |
27 | JBTS | Non-cil MS cond | No | Unr | Luscan-Lumish Syn | SETD2 | No | Conf |
28 | BBS | Non-cil MS cond | No | Sol | Optic Atrophy | OPA1 | No | Conf |
29 | BBS | Non-cil MS cond | No | Sol | Alström Syn | ALMS1 | Yes | Conf |
30 | BBS | BBS | Yes | Sol | Chung-Jansen Syn | PHIP | No | Conf |
31 | BBS | Isol RD | No | Sol | Cone-rod dystrophy | RAB28 | Yes | Conf |
32 | BBS | BBS | Yes | Sol | None: Unsolved | ALMS1 | N/a | False+ve |
33 | RMCD | Non-cil MS cond | No | Uns | Uns | |||
34 | RMCD | Non-cil MS cond | No | Uns | Van Esch-O'Driscoll Syn | POLA1 | No | Poss |
35 | JBTS | JBTS | Yes | Uns | Uns | |||
36 | JBTS | JBTS | Yes | Uns | Uns | |||
37 | RMCD | Non-cil MS cond | No | Uns | Uns | |||
38 | BBS | BBS | Yes | Uns | Uns | |||
39 | BBS | BBS | Yes | Uns | Uns | |||
40 | BBS | BBS | Yes | Uns | Uns | |||
41 | JBTS | JBTS | Yes | Uns | JBTS | CSPP1 | Yes | Prob |
42 | JBTS | JBTS | Yes | Unr | JBTS | PIBF1 | Yes | Prob |
43 | BBS | BBS | Yes | Uns | Uns | |||
44 | RMCD | Non-cil MS cond | No | Uns | Uns | |||
45 | BBS | Isol polydactyly | No | Uns | Uns | |||
46 | RMCD | MKS/JBTS-like MS cil | Yes | Uns | Uns | |||
47 | BBS | Non-cil MS cond | No | Unr | Uns | |||
48 | RMCD | BBS-like MS cil | Yes | Uns | Candidate cil | LRRC45 | Candidate | Poss |
49 | RMCD | Non-cil MS cond | No | Unr | Uns | |||
50 | BBS | BBS | Yes | Unr | Uns | |||
51 | RMCD | DM | DM | Unr | Uns | |||
52 | RMCD | JBTS-like MS cil | Yes | Unr | Uns | |||
53 | RMCD | Isol GI disorder | No | Unr | Uns | |||
54 | RMCD | Non-cil MS cond | No | Uns | Uns | |||
55 | JBTS | JBTS | Yes | Uns | Uns | |||
56 | BBS | Isol eye cond (not RD) | No | VUS | BBS | BBS9 | Yes | Poss |
57 | JBTS | JBTS | Yes | Uns | Uns | |||
58 | RMCD | JBTS-like MS cil | Yes | Uns | Uns | |||
59 | BBS | BBS | Yes | Uns | Uns | |||
60 | BBS | BBS | Yes | Uns | Uns | |||
61 | RMCD | Non-cil MS cond | No | Unr | WT1-related disorder | WT1 | No | Conf |
62 | RMCD | Non-cil MS cond | No | Uns | Uns | |||
63 | RMCD | Non-cil MS cond | No | Uns | Uns | |||
64 | RMCD | JBTS-like MS cil | Yes | Uns | Uns | |||
65 | BBS | BBS | Yes | Uns | Uns | |||
66 | RMCD | BBS-like MS cil | Yes | Uns | Uns | |||
67 | BBS | Non-cil MS cond | No | VUS | Alström Syn | ALMS1 | Yes | Poss |
68 | JBTS | JBTS | Yes | Uns | Uns | |||
69 | BBS | BBS | Yes | Sol | BBS | BBS1 | Yes | Conf |
70 | BBS | Non-cil MS cond | No | Uns | Uns | |||
71 | RMCD | Non-cil MS cond | No | Unr | Shukla-Vernon Syn | BCORL1 | No | Poss |
72 | BBS | BBS | Yes | Unr | Sifrim-Hitz-Weiss Syn | CHD4 | No | Poss |
73 | RMCD | Isol GI disorder | No | Uns | Uns | |||
74 | BBS | Non-cil MS cond | No | Uns | Uns | |||
75 | BBS | DM | DM | Unr | BBS | BBS4 | Yes | Poss |
76 | BBS | BBS | Yes | VUS | BBS | BBS10 | Yes | Poss |
77 | BBS | BBS | Yes | Uns | Uns | |||
78 | BBS | BBS | Yes | Uns | Uns | |||
79 | BBS | BBS | Yes | Uns | Uns | |||
80 | BBS | BBS | Yes | Uns | Uns | |||
81 | BBS | BBS | Yes | Uns | Uns | |||
82 | BBS | Non-cil MS cond | No | Unr | Attenuated mucopolysaccharidosis 1 | IDUA | No | Prob |
83 | BBS | BBS | Yes | Uns | Uns |
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.