Activity
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4 actions
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| Intellectual disability v8.101 | ARHGEF40 | Sarah Leigh Tag watchlist tag was added to gene: ARHGEF40. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.86 | ARHGEF40 | Sarah Leigh Classified gene: ARHGEF40 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.86 | ARHGEF40 | Sarah Leigh Gene: arhgef40 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.85 | ARHGEF40 |
Sarah Leigh gene: ARHGEF40 was added gene: ARHGEF40 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: ARHGEF40 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ARHGEF40 were set to 39838643 Phenotypes for gene: ARHGEF40 were set to developmental delay Review for gene: ARHGEF40 was set to AMBER Added comment: Two de novo ARHGEF40 variants have been identified in two individuals with multiple congenital anomalies and developmental delay (PMID: 39838643). The two variants affected the same residue (NM_018071: c.673 C>T, NP_060541: p.Arg225Trp, NM_018071: c.674 G>A, NP_060541: p.Arg225Gln). Both patients had global developmental delay, delayed speech and language development, hypotonia, short stature and impaired hearing. Sources: Literature |
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