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| Fetal anomalies v0.135 | CTSA | Rebecca Foulger Publications for gene CTSA were changed from to 7759227 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.134 | CTSA | Rebecca Foulger edited their review of gene: CTSA: 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: PMID:7759227 (Landau et al, 1995) reports that galactosialidosis can cause non-immune hydrops.; Changed rating: GREEN; Changed publications: 7759227 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CTSA | Rebecca Foulger reviewed gene: CTSA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | CTSA |
Rebecca Foulger gene: CTSA was added gene: CTSA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CTSA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTSA were set to GALACTOSIALIDOSIS |
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