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| Speech apraxia v0.38 | PURA |
Thomas Scerri changed review comment from: First reported CAS case with an inherited PURA missense variant (Kaspi et al., 2022; PMID: 36117209). Both proband and parent affected. Sources: Expert list, Expert Review; to: First reported CAS case with an inherited PURA missense variant (Kaspi et al., 2022; PMID: 36117209). Both proband and parent affected. Also several cases of "absence of speech" in the literature. Sources: Expert list, Expert Review |
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| Speech apraxia v0.38 | PURA |
Thomas Scerri changed review comment from: First reported CAS case with an inherited missense PURA variant (Kaspi et al., 2022; PMID: 36117209). Both proband and parent affected. Sources: Expert list, Expert Review; to: First reported CAS case with an inherited PURA missense variant (Kaspi et al., 2022; PMID: 36117209). Both proband and parent affected. Sources: Expert list, Expert Review |
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| Speech apraxia v0.28 | PURA | Zornitza Stark Marked gene: PURA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v0.28 | PURA | Zornitza Stark Gene: pura has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v0.28 | PURA | Zornitza Stark Classified gene: PURA as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v0.28 | PURA | Zornitza Stark Gene: pura has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v0.27 | PURA | Thomas Scerri edited their review of gene: PURA: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v0.27 | PURA |
Thomas Scerri gene: PURA was added gene: PURA was added to Speech apraxia. Sources: Expert list,Expert Review Mode of inheritance for gene: PURA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PURA were set to 36117209 Phenotypes for gene: PURA were set to Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties, MIM# 616158 Added comment: First reported CAS case with an inherited missense PURA variant (Kaspi et al., 2022; PMID: 36117209). Both proband and parent affected. Sources: Expert list, Expert Review |
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