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| Speech apraxia v0.38 | TNRC6B | Thomas Scerri edited their review of gene: TNRC6B: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v0.38 | TNRC6B |
Thomas Scerri changed review comment from: First reported CAS case with a TNRC6B nonsense variant (Eising et al., 2019; PMID: 29463886) These additional supporting studies are for speech delay rather than speech apraxia per se: Granadillo et al., (2020; PMID: 32152250) studied seventeen further probands with LoF TNRC6B variants and found "speech delay in 94% (16/17), fine motor delay in 82% (14/17) and gross motor delay in 71% (12/17)". Yahia et al. (2024; PMID: 38300321) looked at a Swedish cohort with severe developmental language disorder and find another case with a LoF variant in TNRC6B. Yang et al. (2024; PMID: 38404251) report two independent cases with speech delay/abnormalities carrying LoF variants in TNRC6B. Sources: Expert list, Expert Review; to: First reported CAS case with a TNRC6B nonsense variant (Eising et al., 2019; PMID: 29463886) These additional supporting studies are for speech delay rather than speech apraxia per se: Granadillo et al., (2020; PMID: 32152250) studied seventeen further probands with LoF TNRC6B variants and found "speech delay in 94% (16/17), fine motor delay in 82% (14/17) and gross motor delay in 71% (12/17)". Yahia et al. (2024; PMID: 38300321) looked at a Swedish cohort with severe developmental language disorder and find another case with a loss-of-function variant in TNRC6B. Yang et al. (2024; PMID: 38404251) report two independent cases with speech delay/abnormalities carrying loss-of-function variants in TNRC6B. Sources: Expert list, Expert Review |
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| Speech apraxia v0.38 | TNRC6B |
Thomas Scerri changed review comment from: First reported CAS case with a TNRC6B nonsense variant (Eising et al., 2019; PMID: 29463886) These additional supporting studies are for speech delay rather than speech apraxia per se: Granadillo et al., (2020; PMID: 32152250) studied seventeen further probands with LoF TNRC6B variants and found "speech delay in 94% (16/17), fine motor delay in 82% (14/17) and gross motor delay in 71% (12/17)". Yahia et al. (2024; PMID: 38300321) looked at a Swedish cohort with severe developmental language disorder and find another case with a LoF variant in TNRC6B. Yang et al., (2024; PMID: 38404251) report two independent cases with speech delay/abnormalities carrying LoF variants in TNRC6B. Sources: Expert list, Expert Review; to: First reported CAS case with a TNRC6B nonsense variant (Eising et al., 2019; PMID: 29463886) These additional supporting studies are for speech delay rather than speech apraxia per se: Granadillo et al., (2020; PMID: 32152250) studied seventeen further probands with LoF TNRC6B variants and found "speech delay in 94% (16/17), fine motor delay in 82% (14/17) and gross motor delay in 71% (12/17)". Yahia et al. (2024; PMID: 38300321) looked at a Swedish cohort with severe developmental language disorder and find another case with a LoF variant in TNRC6B. Yang et al. (2024; PMID: 38404251) report two independent cases with speech delay/abnormalities carrying LoF variants in TNRC6B. Sources: Expert list, Expert Review |
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| Speech apraxia v0.38 | TNRC6B |
Thomas Scerri changed review comment from: First reported CAS case with a TNRC6B nonsense variant (Eising et al., 2019; PMID: 29463886) These additional supporting studies are for speech delay rather than speech apraxia per se: Granadillo et al., (2020; PMID: 32152250) studied seventeen further probands with LoF TNRC6B variants and found "speech delay in 94% (16/17), fine motor delay in 82% (14/17) and gross motor delay in 71% (12/17)". Yahia et al., (2024; PMID: 38300321) looked at a Swedish cohort with severe developmental language disorder and find another case with a LoF variant in TNRC6B. Yang et al., (2024; PMID: 38404251) report two independent cases with speech delay/abnormalities carrying LoF variants in TNRC6B. Sources: Expert list, Expert Review; to: First reported CAS case with a TNRC6B nonsense variant (Eising et al., 2019; PMID: 29463886) These additional supporting studies are for speech delay rather than speech apraxia per se: Granadillo et al., (2020; PMID: 32152250) studied seventeen further probands with LoF TNRC6B variants and found "speech delay in 94% (16/17), fine motor delay in 82% (14/17) and gross motor delay in 71% (12/17)". Yahia et al. (2024; PMID: 38300321) looked at a Swedish cohort with severe developmental language disorder and find another case with a LoF variant in TNRC6B. Yang et al., (2024; PMID: 38404251) report two independent cases with speech delay/abnormalities carrying LoF variants in TNRC6B. Sources: Expert list, Expert Review |
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| Speech apraxia v0.38 | TNRC6B |
Thomas Scerri changed review comment from: First proband with a LoF TNRC6B variant reported for CAS (Eising et al., 2019; PMID: 29463886). These additional supporting studies are for speech delay rather than speech apraxia per se: Granadillo et al., (2020; PMID: 32152250) studied seventeen further probands with LoF TNRC6B variants and found "speech delay in 94% (16/17), fine motor delay in 82% (14/17) and gross motor delay in 71% (12/17)". Yahia et al., (2024; PMID: 38300321) looked at a Swedish cohort with severe developmental language disorder and find another case with a LoF variant in TNRC6B. Yang et al., (2024; PMID: 38404251) report two independent cases with speech delay/abnormalities carrying LoF variants in TNRC6B. Sources: Expert list, Expert Review; to: First reported CAS case with a TNRC6B nonsense variant (Eising et al., 2019; PMID: 29463886) These additional supporting studies are for speech delay rather than speech apraxia per se: Granadillo et al., (2020; PMID: 32152250) studied seventeen further probands with LoF TNRC6B variants and found "speech delay in 94% (16/17), fine motor delay in 82% (14/17) and gross motor delay in 71% (12/17)". Yahia et al., (2024; PMID: 38300321) looked at a Swedish cohort with severe developmental language disorder and find another case with a LoF variant in TNRC6B. Yang et al., (2024; PMID: 38404251) report two independent cases with speech delay/abnormalities carrying LoF variants in TNRC6B. Sources: Expert list, Expert Review |
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| Speech apraxia v0.22 | TNRC6B | Zornitza Stark Marked gene: TNRC6B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v0.22 | TNRC6B | Zornitza Stark Gene: tnrc6b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v0.22 | TNRC6B | Zornitza Stark Classified gene: TNRC6B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v0.22 | TNRC6B | Zornitza Stark Gene: tnrc6b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v0.8 | TNRC6B | Thomas Scerri edited their review of gene: TNRC6B: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v0.8 | TNRC6B |
Thomas Scerri changed review comment from: First proband with a LoF TNRC6B variant reported for CAS (Eising et al., 2019; PMID: 29463886). Granadillo et al., (2020; PMID: 32152250) studied seventeen further probands with LoF TNRC6B variants and found "speech delay in 94% (16/17), fine motor delay in 82% (14/17) and gross motor delay in 71% (12/17)". Yahia et al., (2024; PMID: 38300321) looked at a Swedish cohort with severe developmental language disorder and find another case with a LoF variant in TNRC6B. Yang et al., (2024; PMID: 38404251) report two independent cases with speech delay/abnormalities carrying LoF variants in TNRC6B. Sources: Expert list, Expert Review; to: First proband with a LoF TNRC6B variant reported for CAS (Eising et al., 2019; PMID: 29463886). These additional supporting studies are for speech delay rather than speech apraxia per se: Granadillo et al., (2020; PMID: 32152250) studied seventeen further probands with LoF TNRC6B variants and found "speech delay in 94% (16/17), fine motor delay in 82% (14/17) and gross motor delay in 71% (12/17)". Yahia et al., (2024; PMID: 38300321) looked at a Swedish cohort with severe developmental language disorder and find another case with a LoF variant in TNRC6B. Yang et al., (2024; PMID: 38404251) report two independent cases with speech delay/abnormalities carrying LoF variants in TNRC6B. Sources: Expert list, Expert Review |
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| Speech apraxia v0.8 | TNRC6B |
Thomas Scerri gene: TNRC6B was added gene: TNRC6B was added to Speech apraxia. Sources: Expert list,Expert Review Mode of inheritance for gene: TNRC6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TNRC6B were set to 29463886; 32152250; 38300321; 38404251 Phenotypes for gene: TNRC6B were set to Global developmental delay with speech and behavioral abnormalities, MIM# 619243 Review for gene: TNRC6B was set to GREEN Added comment: First proband with a LoF TNRC6B variant reported for CAS (Eising et al., 2019; PMID: 29463886). Granadillo et al., (2020; PMID: 32152250) studied seventeen further probands with LoF TNRC6B variants and found "speech delay in 94% (16/17), fine motor delay in 82% (14/17) and gross motor delay in 71% (12/17)". Yahia et al., (2024; PMID: 38300321) looked at a Swedish cohort with severe developmental language disorder and find another case with a LoF variant in TNRC6B. Yang et al., (2024; PMID: 38404251) report two independent cases with speech delay/abnormalities carrying LoF variants in TNRC6B. Sources: Expert list, Expert Review |
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