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| Fetal anomalies v0.142 | CASK | Rebecca Foulger commented on gene: CASK: In the original PAGE file, MOI listed as X-linked dominant for 'MENTAL RETARDATION X-LINKED CASK-RELATED, and Hemizygous for 'FG SYNDROME TYPE 4' and 'MRX WITH/WITHOUT NYSTAGMUS'. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.134 | CASK | Rebecca Foulger edited their review of gene: CASK: 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 Green. Additional notes from clinical review: Phenotype includes structural brain abnormalities.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CASK | Rebecca Foulger commented on gene: CASK: DDG2P rating in original PAGE list: Confirmed for MENTAL RETARDATION X-LINKED CASK-RELATED, FG SYNDROME TYPE 4 and Confirmed for MRX WITH/WITHOUT NYSTAGMUS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | CASK | Rebecca Foulger reviewed gene: CASK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | CASK | Rebecca Foulger Added phenotypes MRX WITH/WITHOUT NYSTAGMUS for gene: CASK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | CASK | Rebecca Foulger Added phenotypes FG SYNDROME TYPE 4 for gene: CASK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | CASK |
Rebecca Foulger gene: CASK was added gene: CASK was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CASK was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: CASK were set to MENTAL RETARDATION X-LINKED CASK-RELATED |
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