Activity
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11 actions
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| Fetal anomalies v0.240 | TRIM32 | Rebecca Foulger commented on gene: TRIM32: Summary of evidence: 1 Bedouin family reported in PMID:16606853 (Chiang et al., 2006). Plus PMID:30823891 (Servián-Morilla et al 2019) report variations in TRIM32 causing a muscle dystrophy. Two patients from Family C (II.3 and II.4) had symptoms of both muscular dystrophy and BBS including hypogonadism, hearing loss, and behavioral abnormalities. Therefore 2 families reported so far. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.226 | TRIM32 | Rebecca Foulger Marked gene: TRIM32 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.226 | TRIM32 | Rebecca Foulger Added comment: Comment when marking as ready: Marked TRIM32 as ready following clinical review, and review of evidence. April 29th 2019. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.226 | TRIM32 | Rebecca Foulger Gene: trim32 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.223 | TRIM32 |
Rebecca Foulger Source Expert Review Amber was added to TRIM32. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Fetal anomalies v0.222 | TRIM32 | Rebecca Foulger commented on gene: TRIM32: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 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 fetally-relevant but limited evidence: include on the Fetal anomalies panel as an Amber gene. Additional notes from clinical review: Demote from Green to Amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.163 | TRIM32 | Rebecca Foulger Publications for gene: TRIM32 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TRIM32 | Rebecca Foulger commented on gene: TRIM32: DDG2P rating in original PAGE list: Confirmed for BARDET-BIEDL SYNDROME TYPE 11 and Confirmed for LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | TRIM32 | Rebecca Foulger reviewed gene: TRIM32: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | TRIM32 | Rebecca Foulger Added phenotypes LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H for gene: TRIM32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | TRIM32 |
Rebecca Foulger gene: TRIM32 was added gene: TRIM32 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRIM32 were set to BARDET-BIEDL SYNDROME TYPE 11 |
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