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Speech apraxia v0.38 | GNB1 |
Thomas Scerri changed review comment from: Only reported CAS proband with a de novo nonsense GNB1 variant (Hildebrand et al., 2020; PMID: 32345733). Sources: Expert list, Expert Review; to: First reported CAS proband with a de novo GNB1 nonsense variant (Hildebrand et al., 2020; PMID: 32345733). Sources: Expert list, Expert Review |
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Speech apraxia v0.17 | GNB1 | Zornitza Stark Marked gene: GNB1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Speech apraxia v0.17 | GNB1 | Zornitza Stark Gene: gnb1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Speech apraxia v0.17 | GNB1 | Zornitza Stark Classified gene: GNB1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Speech apraxia v0.17 | GNB1 | Zornitza Stark Gene: gnb1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Speech apraxia v0.8 | GNB1 |
Thomas Scerri gene: GNB1 was added gene: GNB1 was added to Speech apraxia. Sources: Expert list,Expert Review Mode of inheritance for gene: GNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GNB1 were set to 32345733 Phenotypes for gene: GNB1 were set to Intellectual developmental disorder, autosomal dominant 42, MIM# 616973 Review for gene: GNB1 was set to RED Added comment: Only reported CAS proband with a de novo nonsense GNB1 variant (Hildebrand et al., 2020; PMID: 32345733). Sources: Expert list, Expert Review |