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| Speech apraxia v0.38 | EBF3 |
Thomas Scerri changed review comment from: First reported CAS case with a de novo EBF3 nonsense variant (Hildebrand et al., 2020; PMID: 32345733). Chao et al. (2017; PMID: 28017372) report three independent cases with de novo missense variants (all three curiously substituting the same amino acid). All three cases have "expressive speech disorder (3/3)" and one specifically had apraxia. Deisseroth et al. (2022; PMID: 35340043) report a total of 83 individuals with missense or protein-truncating variants for EBF3 from a meta-analysis and find 10% have speech apraxia. Specifically, of these ten cases, carried de novo EBF3 variants and were reported as having speech apraxia (supplementary tables). Sources: Expert list, Expert Review; to: First reported CAS case with a de novo EBF3 nonsense variant (Hildebrand et al., 2020; PMID: 32345733). Chao et al. (2017; PMID: 28017372) report three independent cases with de novo missense variants (all three curiously substituting the same amino acid). All three cases had "expressive speech disorder (3/3)" and one was reported with apraxia. Deisseroth et al. (2022; PMID: 35340043) report a total of 83 individuals with missense or protein-truncating variants for EBF3 from a meta-analysis and find 10% have speech apraxia. Specifically, of these ten cases, carried de novo EBF3 variants and were reported as having speech apraxia (supplementary tables). Sources: Expert list, Expert Review |
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| Speech apraxia v0.38 | EBF3 |
Thomas Scerri changed review comment from: First reported CAS case with a de novo EBF3 nonsense variant (Hildebrand et al., 2020; PMID: 32345733). Chao et al. (2017; PMID: 28017372) report three independent cases with de novo missense variants (all three curiously substituting the same amino acid). All three cases have "expressive speech disorder (3/3)" and one specifically has apraxia. Deisseroth et al. (2022; PMID: 35340043) report a total of 83 individuals with missense or protein-truncating variants for EBF3 from a meta-analysis and find 10% have speech apraxia. Specifically, of these ten cases, carried de novo EBF3 variants and were reported as having speech apraxia (supplementary tables). Sources: Expert list, Expert Review; to: First reported CAS case with a de novo EBF3 nonsense variant (Hildebrand et al., 2020; PMID: 32345733). Chao et al. (2017; PMID: 28017372) report three independent cases with de novo missense variants (all three curiously substituting the same amino acid). All three cases have "expressive speech disorder (3/3)" and one specifically had apraxia. Deisseroth et al. (2022; PMID: 35340043) report a total of 83 individuals with missense or protein-truncating variants for EBF3 from a meta-analysis and find 10% have speech apraxia. Specifically, of these ten cases, carried de novo EBF3 variants and were reported as having speech apraxia (supplementary tables). Sources: Expert list, Expert Review |
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| Speech apraxia v0.38 | EBF3 |
Thomas Scerri changed review comment from: First reported CAS case with a de novo EBF3 nonsense variant (Hildebrand et al., 2020; PMID: 32345733). Chao et al. (2017; PMID: 28017372) report three independent cases with de novo missense variants (all three curiously substituting the same amino acid). All three cases have "expressive speech disorder (3/3)" and a range of dysarthria and apraxia. Deisseroth et al. (2022; PMID: 35340043) report a total of 83 individuals with missense or protein-truncating variants for EBF3 from a meta-analysis and find 10% have speech apraxia. Specifically, of these ten cases, carried de novo EBF3 variants and were reported as having speech apraxia (supplementary tables). Sources: Expert list, Expert Review; to: First reported CAS case with a de novo EBF3 nonsense variant (Hildebrand et al., 2020; PMID: 32345733). Chao et al. (2017; PMID: 28017372) report three independent cases with de novo missense variants (all three curiously substituting the same amino acid). All three cases have "expressive speech disorder (3/3)" and one specifically has apraxia. Deisseroth et al. (2022; PMID: 35340043) report a total of 83 individuals with missense or protein-truncating variants for EBF3 from a meta-analysis and find 10% have speech apraxia. Specifically, of these ten cases, carried de novo EBF3 variants and were reported as having speech apraxia (supplementary tables). Sources: Expert list, Expert Review |
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| Speech apraxia v0.38 | EBF3 | Thomas Scerri edited their review of gene: EBF3: Changed publications: 32345733, 28017372, 35340043 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v0.38 | EBF3 |
Thomas Scerri changed review comment from: First proband with a de novo nonsense EBF3 variant reported for CAS (Hildebrand et al., 2020; PMID: 32345733). Chao et al. (2017; PMID: 28017372) report three independent cases with de novo missense variants (all three curiously substituting the same amino acid). All three cases have "expressive speech disorder (3/3)" and a range of dysarthria and apraxia. Deisseroth et al. (2022; PMID: 35340043) report a total of 83 individuals with missense or protein-truncating variants for EBF3 from a meta-analysis and find 10% have speech apraxia. Of these ten cases carried de novo EBF3 variants and were reported as having speech apraxia (supplementary tables). Sources: Expert list, Expert Review; to: First reported CAS case with a de novo EBF3 nonsense variant (Hildebrand et al., 2020; PMID: 32345733). Chao et al. (2017; PMID: 28017372) report three independent cases with de novo missense variants (all three curiously substituting the same amino acid). All three cases have "expressive speech disorder (3/3)" and a range of dysarthria and apraxia. Deisseroth et al. (2022; PMID: 35340043) report a total of 83 individuals with missense or protein-truncating variants for EBF3 from a meta-analysis and find 10% have speech apraxia. Specifically, of these ten cases, carried de novo EBF3 variants and were reported as having speech apraxia (supplementary tables). Sources: Expert list, Expert Review |
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| Speech apraxia v0.15 | EBF3 | Zornitza Stark Marked gene: EBF3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v0.15 | EBF3 | Zornitza Stark Gene: ebf3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v0.15 | EBF3 | Zornitza Stark Classified gene: EBF3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v0.15 | EBF3 | Zornitza Stark Gene: ebf3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v0.8 | EBF3 |
Thomas Scerri changed review comment from: First proband with a de novo nonsense EBF3 variant reported for CAS (Hildebrand et al., 2020; PMID: 32345733). Chao et al. (2017; PMID: 28017372) report three independent cases with de novo missense variants (all three curiously substituting the same amino acid). All three cases have "expressive speech disorder (3/3)" and a range of dysarthria and apraxia. Deisseroth et al. (2022; PMID: 35340043) report a total of 83 individuals with missense or protein-truncating variants for EBF3 from a meta-analysis and find 10% have speech apraxia. Ten cases carried de novo EBF3 variants and were reported as having speech apraxia (supplementary tables). Sources: Expert list, Expert Review; to: First proband with a de novo nonsense EBF3 variant reported for CAS (Hildebrand et al., 2020; PMID: 32345733). Chao et al. (2017; PMID: 28017372) report three independent cases with de novo missense variants (all three curiously substituting the same amino acid). All three cases have "expressive speech disorder (3/3)" and a range of dysarthria and apraxia. Deisseroth et al. (2022; PMID: 35340043) report a total of 83 individuals with missense or protein-truncating variants for EBF3 from a meta-analysis and find 10% have speech apraxia. Of these ten cases carried de novo EBF3 variants and were reported as having speech apraxia (supplementary tables). Sources: Expert list, Expert Review |
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| Speech apraxia v0.8 | EBF3 |
Thomas Scerri changed review comment from: First proband with a de novo nonsense EBF3 variant reported for CAS (Hildebrand et al., 2020; PMID: 32345733). Chao et al., (2017; PMID: 28017372) report three independent cases with de novo missense variants (all three curiously substituting the same amino acid). All three cases have "expressive speech disorder (3/3)" and a range of dysarthria and apraxia. Sources: Expert list, Expert Review; to: First proband with a de novo nonsense EBF3 variant reported for CAS (Hildebrand et al., 2020; PMID: 32345733). Chao et al. (2017; PMID: 28017372) report three independent cases with de novo missense variants (all three curiously substituting the same amino acid). All three cases have "expressive speech disorder (3/3)" and a range of dysarthria and apraxia. Deisseroth et al. (2022; PMID: 35340043) report a total of 83 individuals with missense or protein-truncating variants for EBF3 from a meta-analysis and find 10% have speech apraxia. Ten cases carried de novo EBF3 variants and were reported as having speech apraxia (supplementary tables). Sources: Expert list, Expert Review |
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| Speech apraxia v0.8 | EBF3 |
Thomas Scerri gene: EBF3 was added gene: EBF3 was added to Speech apraxia. Sources: Expert list,Expert Review Mode of inheritance for gene: EBF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EBF3 were set to 32345733; 28017372 Phenotypes for gene: EBF3 were set to Hypotonia, ataxia, and delayed development syndrome, MIM# 617330 Review for gene: EBF3 was set to GREEN Added comment: First proband with a de novo nonsense EBF3 variant reported for CAS (Hildebrand et al., 2020; PMID: 32345733). Chao et al., (2017; PMID: 28017372) report three independent cases with de novo missense variants (all three curiously substituting the same amino acid). All three cases have "expressive speech disorder (3/3)" and a range of dysarthria and apraxia. Sources: Expert list, Expert Review |
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