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| Fetal anomalies v0.226 | TBL1XR1 |
Rebecca Foulger Source Expert Review Green was added to TBL1XR1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v0.225 | TBL1XR1 | Rebecca Foulger edited their review of gene: TBL1XR1: Added comment: 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: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Include based on combination of (subtle) phenotypes. Action taken: Upgraded TBL1XR1 from Amber to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.217 | TBL1XR1 | Rebecca Foulger Publications for gene: TBL1XR1 were set to 28687524; 30365874; 26769062; 25425123; 23160955 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.216 | TBL1XR1 | Rebecca Foulger Tag missense tag was added to gene: TBL1XR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.216 | TBL1XR1 | Rebecca Foulger commented on gene: TBL1XR1: Evidence assessment for 'Pierpont syndrome, 602342' comprises 6 unrelated patients from Heinen et al. 2016 (PMID:26769062) with the same de novo heterozygous missense variant in the TBL1XR1 gene (c.1337A>G, p.Y446C). Plus a male child with the same missense variant from Kahlert et al., 2017 (PMID:28562391). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.119 | TBL1XR1 | Rebecca Foulger Publications for gene: TBL1XR1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.117 | TBL1XR1 | Rebecca Foulger commented on gene: TBL1XR1: TBL1XR1 originally added to Fetal anomalies panel as Amber with phenotype 'AUTISM' based on DDG2P/PAGE rating of 'Probable'. DDG2P MOP for AUTISM was loss of function. DDG2P MOI for AUTISM was monoallelic. TBL1XR1 now has a 'Confirmed' rating in DDG2P for both 'Intellectual disability with autism spectrum disorder' and 'Pierpont syndrome'. Kept rating as Amber awaiting clinical review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.117 | TBL1XR1 | Rebecca Foulger Added comment: Comment on phenotypes: Pierpont syndrome added to DD-G2P as disorder associated with TBL1XR1 on 05/11/2018. DDG2P rating for Pierpont syndrome: confirmed. DDG2P MOI for Pierpont syndrome: monoallelic. DDG2P MOP for Pierpont syndrome: activating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.117 | TBL1XR1 | Rebecca Foulger Phenotypes for gene: TBL1XR1 were changed from AUTISM to Intellectual disability with autism spectrum disorder; Pierpont syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TBL1XR1 | Rebecca Foulger reviewed gene: TBL1XR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | TBL1XR1 |
Rebecca Foulger gene: TBL1XR1 was added gene: TBL1XR1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TBL1XR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TBL1XR1 were set to AUTISM |
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