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| Speech apraxia v1.27 | DIP2C | Zornitza Stark Classified gene: DIP2C as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.27 | DIP2C | Zornitza Stark Gene: dip2c has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v0.38 | DIP2C |
Thomas Scerri changed review comment from: First reported CAS proband with a de novo splice DIP2C variant (Kaspi et al., 2022; PMID: 36117209). Ha et al. (2024; PMID: 38421105) report 23 cases with various DIP2C variants, including the one published by Kaspi et al. (2022; PMID: 36117209). All 23 cases have various speech deficits and two (including the Kaspi et al. (2022) case) are reported having speech apraxia. Sources: Expert list, Expert Review; to: First reported CAS proband with a de novo DIP2C splice acceptor variant (Kaspi et al., 2022; PMID: 36117209). Ha et al. (2024; PMID: 38421105) report 23 cases with various DIP2C variants, including the one published by Kaspi et al. (2022; PMID: 36117209). All 23 cases have various speech deficits and two (including the Kaspi et al. (2022) case) are reported having speech apraxia. Sources: Expert list, Expert Review |
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| Speech apraxia v0.14 | DIP2C | Zornitza Stark Marked gene: DIP2C as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v0.14 | DIP2C | Zornitza Stark Gene: dip2c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v0.14 | DIP2C | Zornitza Stark Classified gene: DIP2C as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v0.14 | DIP2C | Zornitza Stark Gene: dip2c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v0.8 | DIP2C |
Thomas Scerri gene: DIP2C was added gene: DIP2C was added to Speech apraxia. Sources: Expert list,Expert Review Mode of inheritance for gene: DIP2C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DIP2C were set to 36117209; 38421105 Phenotypes for gene: DIP2C were set to Neurodevelopmental disorder (MONDO:0700092), DIP2C-related Review for gene: DIP2C was set to AMBER Added comment: First reported CAS proband with a de novo splice DIP2C variant (Kaspi et al., 2022; PMID: 36117209). Ha et al. (2024; PMID: 38421105) report 23 cases with various DIP2C variants, including the one published by Kaspi et al. (2022; PMID: 36117209). All 23 cases have various speech deficits and two (including the Kaspi et al. (2022) case) are reported having speech apraxia. Sources: Expert list, Expert Review |
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