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| Fetal anomalies v0.154 | PAK3 | Rebecca Foulger Publications for gene PAK3 were changed from to 24556213 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.153 | PAK3 | Rebecca Foulger edited their review of gene: PAK3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN; Changed publications: 24556213 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PAK3 | Rebecca Foulger commented on gene: PAK3: DDG2P rating in original PAGE list: Confirmed for AGENESIS OF THE CORPUS CALLOSUM and Confirmed for MENTAL RETARDATION X-LINKED TYPE 30. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | PAK3 | Rebecca Foulger reviewed gene: PAK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | PAK3 | Rebecca Foulger Added phenotypes MENTAL RETARDATION X-LINKED TYPE 30 for gene: PAK3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | PAK3 |
Rebecca Foulger gene: PAK3 was added gene: PAK3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PAK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PAK3 were set to AGENESIS OF THE CORPUS CALLOSUM |
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