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| Fetal anomalies v0.311 | TCTN2 | Rebecca Foulger edited their review of gene: TCTN2: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) and at a Fetal Working Group call on July 19th 2019. Outcome of review: Rate Green because of diagnostic finding in PAGE study (PMID:30712880) plus additional case. There are 3 reported unrelated families with Joubert syndrome and 3 with Meckel syndrome (all homozygous variants in consanguineous families: PMIDs 21565611, 25118024, 21462283). PMID:25118024 comments that all cases have cerebellar vermis hypoplasia.; Changed rating: GREEN; Changed publications: 21565611, 25118024 & 21462283 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.310 | TCTN2 |
Rebecca Foulger Source Expert Review Green was added to TCTN2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v0.176 | TCTN2 | Rebecca Foulger Publications for gene: TCTN2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.175 | TCTN2 | Rebecca Foulger commented on gene: TCTN2: Additional evidence from PAGE study: Diagnostic Homozygous variant identified in TCTN2 from fetal exome sequencing in Lord et al., 2019 (PMID:30712880). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TCTN2 | Rebecca Foulger reviewed gene: TCTN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | TCTN2 |
Rebecca Foulger gene: TCTN2 was added gene: TCTN2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TCTN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TCTN2 were set to JOUBERT SYNDROME AND RELATED DISORDERS |
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