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Speech apraxia v0.38 | MEIS2 |
Thomas Scerri changed review comment from: First reported CAS proband with a LoF MEI2 variant (Hildebrand et al., 2020; PMID: 32345733). Douglas et al. (2018; PMID: 30055086) report 3 new cases with de novo missense variants and 2 previously published deletion and nonsense variants. All cases have a range of differently worded speech problems, and one has verbal apraxia. Sources: Expert Review, Expert list; to: First reported CAS proband with a MEI2 frameshift variant (Hildebrand et al., 2020; PMID: 32345733). Douglas et al. (2018; PMID: 30055086) report 3 new cases with de novo missense variants and 2 previously published deletion and nonsense variants. All cases have a range of differently worded speech problems, and one has verbal apraxia. Sources: Expert Review, Expert list |
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Speech apraxia v0.18 | MEIS2 | Zornitza Stark Marked gene: MEIS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Speech apraxia v0.18 | MEIS2 | Zornitza Stark Gene: meis2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Speech apraxia v0.18 | MEIS2 | Zornitza Stark Classified gene: MEIS2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Speech apraxia v0.18 | MEIS2 | Zornitza Stark Gene: meis2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Speech apraxia v0.8 | MEIS2 |
Thomas Scerri gene: MEIS2 was added gene: MEIS2 was added to Speech apraxia. Sources: Expert Review,Expert list Mode of inheritance for gene: MEIS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MEIS2 were set to 32345733; 30055086 Phenotypes for gene: MEIS2 were set to Cleft palate, cardiac defects, and impaired intellectual development, MIM# 600987 Review for gene: MEIS2 was set to AMBER Added comment: First reported CAS proband with a LoF MEI2 variant (Hildebrand et al., 2020; PMID: 32345733). Douglas et al. (2018; PMID: 30055086) report 3 new cases with de novo missense variants and 2 previously published deletion and nonsense variants. All cases have a range of differently worded speech problems, and one has verbal apraxia. Sources: Expert Review, Expert list |