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| Fetal anomalies v0.161 | TCTN1 | Rebecca Foulger edited their review of gene: TCTN1: 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 a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.38 | TCTN1 | Rebecca Foulger commented on gene: TCTN1: Removed watchlist tag following clinical review by Anna de Burca. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.38 | TCTN1 | Rebecca Foulger Tag watchlist was removed from gene: TCTN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.38 | TCTN1 | Rebecca Foulger Classified gene: TCTN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.38 | TCTN1 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following email correspondance from Anna de Burca. Originally assigned an Amber rating because of different PAGE/DDG2P ratings for different disorders. Anna notes that TCTN1 is Green on the 'Rare multisystem ciliopathy disorders' panel with Joubert syndrome phenotype, and therefore Green rating is appropriate for this Fetal anomalies panel. 3 cases from the literature to support Green rating: Two Bangladeshi sisters in PMID:21725307 with homozgyous variant in TCTN1. A compound het variant from PMID:26477546 in a male fetus, and PMID:26489806 report an additional compound het case. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.38 | TCTN1 | Rebecca Foulger Gene: tctn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | TCTN1 | Rebecca Foulger Tag watchlist tag was added to gene: TCTN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | TCTN1 | Rebecca Foulger commented on gene: TCTN1: 'watchlist' tag added to highlight different DD-G2P ratings for this gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | TCTN1 | Rebecca Foulger reviewed gene: TCTN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | TCTN1 |
Rebecca Foulger Source PAGE Additional Gene List was added to TCTN1. Added phenotypes Joubert syndrome 13 614173 for gene: TCTN1 |
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| Fetal anomalies v0.1 | TCTN1 |
Rebecca Foulger gene: TCTN1 was added gene: TCTN1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TCTN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TCTN1 were set to JOUBERT SYNDROME AND RELATED DISORDERS |
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