Activity
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| Intellectual disability v9.330 | FICD | Ida Ertmanska Tag gene-checked was removed from gene: FICD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.330 | FICD | Ida Ertmanska Tag gene-checked tag was added to gene: FICD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.127 | FICD |
Arina Puzriakova changed review comment from: Paper by Perera et al 2022 has now been published (PMID: 36704923). An additional 6 unrelated families have been reported with biallelic variants in this gene presenting with motor neuron disease. Unlike the cases reported by Perera et al, these individuals did not display any significant cognitive deficits (PMID: 36136088; 40062579); to: Paper by Perera et al 2022 has now been published (PMID: 36704923). An additional 6 unrelated families have been reported with biallelic variants in this gene presenting with motor neuron disease. Unlike the cases reported by Perera et al, these individuals did not display any significant cognitive deficits (PMID: 36136088; 40062579). Therefore maintaining the Amber rating on this panel. |
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| Intellectual disability v9.127 | FICD | Arina Puzriakova commented on gene: FICD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.127 | FICD | Arina Puzriakova Publications for gene: FICD were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1727 | FICD | Eleanor Williams Entity copied from Diabetes - neonatal onset v2.53 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1727 | FICD |
Eleanor Williams gene: FICD was added gene: FICD was added to Intellectual disability. Sources: Expert review,Expert Review Amber watchlist tags were added to gene: FICD. Mode of inheritance for gene: FICD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FICD were set to Neonatal diabetes; Neonatal insulin-dependent diabetes mellitus, HP:0000857; severe neurodevelopmental delay, HP:0012758; skeletal abnormalities. |
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