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| Speech apraxia v0.38 | DDX3X |
Thomas Scerri changed review comment from: First reported CAS proband with a de novo LoF DDX3X variant (Hildebrand et al., 2020; PMID: 32345733). Second reported CAS proband with a de novo LoF DDX3X variant (Kaspi et al., 2022; PMID: 36117209) Third in-house CAS proband with a de novo LoF DDX3X variant (not published). Parra et al. (2024; PMID: 37904618) report thirty-four independent probands with DDX3X mutations for which "the most frequent clinical features (>70%) identified in these patients included speech dyspraxia (88.2%)". Sources: Expert list, Expert Review; to: Hildebrand et al. (2020; PMID: 32345733) report the first CAS case has a de novo DDX3X frameshift variant. Kaspi et al. (2022; PMID: 36117209) report a case with dysarthria and a de novo DDX3X nonsense variant. An independent (unpublished) in-house CAS proband has a de novo DDX3X nonsense variant. Parra et al. (2024; PMID: 37904618) report thirty-four independent probands with DDX3X mutations for which "the most frequent clinical features (>70%) identified in these patients included speech dyspraxia (88.2%; 30/34)". Sources: Expert list, Expert Review |
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| Speech apraxia v0.13 | DDX3X | Zornitza Stark Marked gene: DDX3X as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v0.13 | DDX3X | Zornitza Stark Gene: ddx3x has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v0.13 | DDX3X | Zornitza Stark Classified gene: DDX3X as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v0.13 | DDX3X | Zornitza Stark Gene: ddx3x has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v0.8 | DDX3X |
Thomas Scerri changed review comment from: First proband with a de novo LoF DDX3X variant reported for CAS (Hildebrand et al., 2020; PMID: 32345733). Second proband with a de novo LoF DDX3X variant reported for CAS (Kaspi et al., 2022; PMID: 36117209) Parra et al. (2024; PMID: 37904618) report thirty-four independent probands with DDX3X mutations for which "the most frequent clinical features (>70%) identified in these patients included speech dyspraxia (88.2%)". Sources: Expert list, Expert Review; to: First reported CAS proband with a de novo LoF DDX3X variant (Hildebrand et al., 2020; PMID: 32345733). Second reported CAS proband with a de novo LoF DDX3X variant (Kaspi et al., 2022; PMID: 36117209) Third in-house CAS proband with a de novo LoF DDX3X variant (not published). Parra et al. (2024; PMID: 37904618) report thirty-four independent probands with DDX3X mutations for which "the most frequent clinical features (>70%) identified in these patients included speech dyspraxia (88.2%)". Sources: Expert list, Expert Review |
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| Speech apraxia v0.8 | DDX3X |
Thomas Scerri gene: DDX3X was added gene: DDX3X was added to Speech apraxia. Sources: Expert list,Expert Review Mode of inheritance for gene: DDX3X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: DDX3X were set to 32345733; 36117209; 37904618 Phenotypes for gene: DDX3X were set to Intellectual developmental disorder, X-linked syndromic, Snijders Blok type, MIM# 300958 Review for gene: DDX3X was set to GREEN Added comment: First proband with a de novo LoF DDX3X variant reported for CAS (Hildebrand et al., 2020; PMID: 32345733). Second proband with a de novo LoF DDX3X variant reported for CAS (Kaspi et al., 2022; PMID: 36117209) Parra et al. (2024; PMID: 37904618) report thirty-four independent probands with DDX3X mutations for which "the most frequent clinical features (>70%) identified in these patients included speech dyspraxia (88.2%)". Sources: Expert list, Expert Review |
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