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| Fetal anomalies v0.149 | SPTLC2 |
Rebecca Foulger Source Expert Review Red was added to SPTLC2. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Fetal anomalies v0.148 | SPTLC2 | Rebecca Foulger edited their review of gene: SPTLC2: 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 not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted SPTLC2 gene rating from Amber to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.110 | SPTLC2 | Rebecca Foulger commented on gene: SPTLC2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.109 | SPTLC2 |
Rebecca Foulger Source Expert Review Amber was added to SPTLC2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Fetal anomalies v0.7 | SPTLC2 | Rebecca Foulger commented on gene: SPTLC2: Rating in original PAGE file: 'both DD and IF' for NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | SPTLC2 | Rebecca Foulger reviewed gene: SPTLC2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | SPTLC2 |
Rebecca Foulger gene: SPTLC2 was added gene: SPTLC2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SPTLC2 were set to NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC |
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