CC2D2A transcript: NM_001080522.2.
Cogan, Cogan-type congenital oculomotor apraxia; JBTS, Joubert syndrome; JSRD, Joubert syndrome related disorders; MKS, Meckel syndrome; ML, Meckel-like syndrome.
(1) Relates to family ID of complete database in Table S3.
(2) Designated as n/a, unless renal phenotype clearly stated.
(3) Variant initially reported as c.2673C>T ; p.Arg925Ter.
(4) Variant initially reported as c.1263_4InsGGCATGTTTTGGC; c.1268G>A ; p.(Ser423Glyfs*19).
(5) Study does not precise phenotype.
(6) Variant initially reported as c.4258G>A ; p.(Arg1528His). This variant was found corrected as c.4583G>A ; p.(Arg1528His) (Lam et al., 2020).
(7) Variant initially reported as c.1412delG ; p.(Lys472Argfs*). This variant was found corrected as c.3082del ; p.(Arg1028Glyfs*4)f (Ben-Salem, Al-Shamsi, Gleeson, Ali, & Al-Gazali, 2015).
(8) In this study (Watson et al., 2016), patients were referred with a clinical diagnosis of either JBTS (9 patients) or MKS (17 patients). The genetic diagnosis was confirmed in 14 of the 26 cases, a diagnostic yield of 54%. The exact phenotype is not reported.
(9) Variant initially reported as c.3743_3746dup; p.(Pro1250Glyfs*11).