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| Speech apraxia v0.38 | ARHGEF9 |
Thomas Scerri changed review comment from: Only reported CAS proband with a de novo nonsense ARHGEF9 variant (Kaspi et al., 2022; PMID: 36117209). Sources: Expert list, Expert Review; to: First reported CAS case with a de novo ARHGEF9 nonsense variant (Kaspi et al., 2022; PMID: 36117209). Sources: Expert list, Expert Review |
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| Speech apraxia v0.10 | ARHGEF9 | Zornitza Stark Marked gene: ARHGEF9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v0.10 | ARHGEF9 | Zornitza Stark Gene: arhgef9 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v0.10 | ARHGEF9 | Zornitza Stark Mode of inheritance for gene: ARHGEF9 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v0.9 | ARHGEF9 | Zornitza Stark Classified gene: ARHGEF9 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v0.9 | ARHGEF9 | Zornitza Stark Gene: arhgef9 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v0.8 | ARHGEF9 |
Thomas Scerri gene: ARHGEF9 was added gene: ARHGEF9 was added to Speech apraxia. Sources: Expert list,Expert Review Mode of inheritance for gene: ARHGEF9 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: ARHGEF9 were set to 36117209 Phenotypes for gene: ARHGEF9 were set to Developmental and epileptic encephalopathy 8, MIM# 300607 Review for gene: ARHGEF9 was set to RED Added comment: Only reported CAS proband with a de novo nonsense ARHGEF9 variant (Kaspi et al., 2022; PMID: 36117209). Sources: Expert list, Expert Review |
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