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| Cerebral Palsy v1.193 | CTBP1 | Clare van Eyk reviewed gene: CTBP1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome MIM#617915; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.57 | CTBP1 | Zornitza Stark Marked gene: CTBP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.57 | CTBP1 | Zornitza Stark Gene: ctbp1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.57 | CTBP1 | Zornitza Stark Classified gene: CTBP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.57 | CTBP1 | Zornitza Stark Gene: ctbp1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.36 | CTBP1 |
Luisa Weiss gene: CTBP1 was added gene: CTBP1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: CTBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CTBP1 were set to 33528536 Phenotypes for gene: CTBP1 were set to Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome MIM#617915 Review for gene: CTBP1 was set to AMBER Added comment: Two independent patients in one large CP cohort studies with the same mutations in this gene (p.R342W), both heterozygous, one of them confirmed de novo. Another recurrent, possibly dominant negative functioning mutation described as causing an ID syndrome with ataxia, hypotonia and tooth enamel defects. Since there is no phenotype given in the CP cohort study, a possible phenotypic overlap cannot be ruled out. Sources: Literature |
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