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| Speech apraxia v0.38 | UPF2 |
Thomas Scerri changed review comment from: A CAS proband with a de novo LoF UPF2 variant (Hildebrand et al., 2020; PMID: 32345733). Johnson et al. (2019; PMID: 31585809) report 3 independent cases with LoF UPF2 variants and a range of speech deficits, including speech apraxia in one of the cases (although the speech disorder had resolved to a mild phonological disorder at later testing). Sources: Expert list, Expert Review; to: First reported CAS proband with a de novo UPF2 frameshift variant (Hildebrand et al., 2020; PMID: 32345733). Johnson et al. (2019; PMID: 31585809) report 3 independent cases with loss-of-function UPF2 variants and a range of speech deficits, including speech apraxia in one of the cases (although the speech disorder had resolved to a mild phonological disorder at later testing). Sources: Expert list, Expert Review |
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| Speech apraxia v0.23 | UPF2 | Zornitza Stark Marked gene: UPF2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v0.23 | UPF2 | Zornitza Stark Gene: upf2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v0.23 | UPF2 | Zornitza Stark Classified gene: UPF2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v0.23 | UPF2 | Zornitza Stark Gene: upf2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v0.8 | UPF2 |
Thomas Scerri gene: UPF2 was added gene: UPF2 was added to Speech apraxia. Sources: Expert list,Expert Review Mode of inheritance for gene: UPF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: UPF2 were set to 32345733; 31585809 Phenotypes for gene: UPF2 were set to Neurodevelopmental disorder (MONDO:0700092), UPF2-related Review for gene: UPF2 was set to RED Added comment: A CAS proband with a de novo LoF UPF2 variant (Hildebrand et al., 2020; PMID: 32345733). Johnson et al. (2019; PMID: 31585809) report 3 independent cases with LoF UPF2 variants and a range of speech deficits, including speech apraxia in one of the cases (although the speech disorder had resolved to a mild phonological disorder at later testing). Sources: Expert list, Expert Review |
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