Activity

Filter

Cancel
Date Panel Item Activity
3 actions
Fetal anomalies v0.134 TMEM138 Rebecca Foulger edited their review of gene: TMEM138: 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 v0.9 TMEM138 Rebecca Foulger reviewed gene: TMEM138: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.1 TMEM138 Rebecca Foulger gene: TMEM138 was added
gene: TMEM138 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: TMEM138 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM138 were set to Joubert syndrome 16 614465