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| Fetal anomalies v0.152 | STAT1 | Rebecca Foulger commented on gene: STAT1: STAT1 was originally added to the Fetal anomalies panel, based on inclusion in the PAGE list. However, at the time of curation and review (April 2nd 2019), STAT1 is not listed on the DD-Gene2Phenotype panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.134 | STAT1 | Rebecca Foulger edited their review of gene: STAT1: 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: Phenotype is not fetally-relevant. Action taken: Demoted STAT1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.122 | STAT1 | Ellen McDonagh Marked gene: STAT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.122 | STAT1 | Ellen McDonagh Gene: stat1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.122 | STAT1 | Ellen McDonagh Classified gene: STAT1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.122 | STAT1 | Ellen McDonagh Added comment: Comment on list classification: This gene and phenotype were discussed in a meeting with Lyn Chitty, Anna de Burca, Richard Scott, Ellen McDonagh and Rebecca Foulger (Great Ormond Street, March 11th 2019). This gene-phenotype is not fetally-relevant. Agreed that this gene should be demoted to Red. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.122 | STAT1 | Ellen McDonagh Gene: stat1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | STAT1 | Rebecca Foulger commented on gene: STAT1: DDG2P rating in original PAGE list: Confirmed for STAT1 DEFICIENCY COMPLETE, Confirmed for MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE and Confirmed for FAMILIAL CANDIDIASIS TYPE 7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | STAT1 | Rebecca Foulger reviewed gene: STAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | STAT1 | Rebecca Foulger Added phenotypes FAMILIAL CANDIDIASIS TYPE 7 for gene: STAT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | STAT1 | Rebecca Foulger Added phenotypes MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE for gene: STAT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | STAT1 |
Rebecca Foulger gene: STAT1 was added gene: STAT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: STAT1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: STAT1 were set to STAT1 DEFICIENCY COMPLETE |
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