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Fetal anomalies v1.859 EXOC3L2 Arina Puzriakova Tag gene-checked tag was added to gene: EXOC3L2.
Fetal anomalies v1.836 EXOC3L2 Arina Puzriakova Tag for-review was removed from gene: EXOC3L2.
Fetal anomalies v1.836 EXOC3L2 Arina Puzriakova commented on gene: EXOC3L2
Fetal anomalies v1.835 EXOC3L2 Arina Puzriakova Source Expert Review Green was added to EXOC3L2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.749 EXOC3L2 Rhiannon Mellis reviewed gene: EXOC3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30327448, 28749478, 27894351; Phenotypes: Dandy Walker malformation, Meckel-Gruber like phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.83 EXOC3L2 Catherine Snow Tag for-review tag was added to gene: EXOC3L2.
Fetal anomalies v1.83 EXOC3L2 Catherine Snow Classified gene: EXOC3L2 as Amber List (moderate evidence)
Fetal anomalies v1.83 EXOC3L2 Catherine Snow Added comment: Comment on list classification: Change from Green to Amber, as requested by NHSE for signed-off panel.
Fetal anomalies v1.83 EXOC3L2 Catherine Snow Gene: exoc3l2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.58 EXOC3L2 Rebecca Foulger Phenotypes for gene: EXOC3L2 were changed from Dandy-Walker malformation to Dandy-Walker malformation; Meckel-Gruber-like syndrome
Fetal anomalies v1.31 EXOC3L2 Rebecca Foulger Classified gene: EXOC3L2 as Green List (high evidence)
Fetal anomalies v1.31 EXOC3L2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green: 3 unrelated fetal cases (PMIDs:27894351,28749478,30327448).
Fetal anomalies v1.31 EXOC3L2 Rebecca Foulger Gene: exoc3l2 has been classified as Green List (High Evidence).
Fetal anomalies v1.30 EXOC3L2 Rebecca Foulger changed review comment from: PMID: 27894351: Shaheen et al., 2016 examined 371 individuals from 265 families with ciliopathy phenotypes. They identified a LOF variant in EXOC3L2 and a lethal phenotype that resembles Meckel–Gruber syndrome (severe posterior fossa malformation with kidney enlargement) in one family.; to: PMID: 27894351: Shaheen et al., 2016 examined 371 individuals from 265 families with ciliopathy phenotypes. They identified a LOF variant in EXOC3L2 and a lethal phenotype that resembles Meckel–Gruber syndrome (severe posterior fossa malformation with kidney enlargement) in one family (reviewed briefly in PMID:28749478).
Fetal anomalies v1.30 EXOC3L2 Rebecca Foulger commented on gene: EXOC3L2: PMID: 27894351: Shaheen et al., 2016 examined 371 individuals from 265 families with ciliopathy phenotypes. They identified a LOF variant in EXOC3L2 and a lethal phenotype that resembles Meckel–Gruber syndrome (severe posterior fossa malformation with kidney enlargement) in one family.
Fetal anomalies v1.30 EXOC3L2 Rebecca Foulger Publications for gene: EXOC3L2 were set to 30327448; 28749478
Fetal anomalies v1.29 EXOC3L2 Rebecca Foulger Publications for gene: EXOC3L2 were set to 30327448
Fetal anomalies v1.28 EXOC3L2 Rebecca Foulger commented on gene: EXOC3L2: PMID: 28749478: Shamseldin et al., 2018 performed exome sequencing as part of molecular autopsy in a cohort of 44 families with at least one death or lethal fetal malformation. They report one fetus with a biallelic EXOC3L2 variant and a phenotype similar to Meckel-Gruber syndrome.
Fetal anomalies v1.28 EXOC3L2 Rebecca Foulger gene: EXOC3L2 was added
gene: EXOC3L2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: EXOC3L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOC3L2 were set to 30327448
Phenotypes for gene: EXOC3L2 were set to Dandy-Walker malformation
Added comment: Added to panel based on PMID:30327448: Shalata et al., 2019 report 3 fetuses from a family with homozygous variants in EXOC3L2 (missense p.Leu41Gln) and severe forms of Dandy-Walker that were detectable by prenatal ultrasound.
Sources: Literature