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| Joubert syndrome and other neurological ciliopathies v0.50 | C2CD3 | Zornitza Stark Marked gene: C2CD3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.50 | C2CD3 | Zornitza Stark Gene: c2cd3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.50 | C2CD3 | Zornitza Stark Classified gene: C2CD3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.50 | C2CD3 | Zornitza Stark Gene: c2cd3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.48 | C2CD3 |
Elena Savva gene: C2CD3 was added gene: C2CD3 was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert list Mode of inheritance for gene: C2CD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C2CD3 were set to PMID: 24997988 Phenotypes for gene: C2CD3 were set to Orofaciodigital syndrome XIV 615948 Review for gene: C2CD3 was set to GREEN Added comment: Molar tooth sign (MTS) a listed phenotype in OMIM PMID: 24997988 - 1 patient with a homozygous PTC. MRI showed MTS PMID: 30097616 - 1 chet (two splice) patient with MTS, polydactyly. Sibling also had polydactyly, mild cerebellar hypoplasia and grey matter heterotopia. 1 chet (two missense) patient with MTS, was noted to have a diagnosis of Joubert syndrome Summary Table 3 reviews previous reports, and notes 6/12 cases also had MTS. Sources: Expert list |
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