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| Fetal anomalies v0.329 | PTEN | Rebecca Foulger changed review comment from: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: No structural features. Demote from Green to Red. ; to: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Hydrocephalus is very unusual, and PTEN is on the Hydrocephalus panel because of the macrocephaly phenotype. Demote from Green to Red. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | PTEN | Rebecca Foulger edited their review of gene: PTEN: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: No structural features. Demote from Green to Red. ; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.310 | PTEN |
Rebecca Foulger Source Expert Review Red was added to PTEN. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.222 | PTEN | Rebecca Foulger edited their review of gene: PTEN: 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: Although caution was taken when considering PTEN for the Fetal anomalies panel because of the cancer association (and therefore a potential incidental finding), macrocephaly presents at birth and PTEN is Green on the Hydrocephalus panel. Therefore after group review, it was decided to include PTEN on the Fetal anomalies panel.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.219 | PTEN | Rebecca Foulger commented on gene: PTEN: In original PAGE file (and in DD-G2P), mode of inheritance is 'Monoallelic' for MACROCEPHALY/AUTISM SYNDROME; BANNAYAN-ZONANA SYNDROME; COWDEN DISEASE; VACTERL ASSOCIATION WITH HYDROCEPHALUS; LHERMITTE-DUCLOS DISEASE. Mode of inheritance in original PAGE file (and in DD-G2P) is mosaic for PROTEUS SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PTEN | Rebecca Foulger commented on gene: PTEN: DDG2P rating in original PAGE list: Confirmed for BANNAYAN-ZONANA SYNDROME, Confirmed for COWDEN DISEASE, Confirmed for VACTERL ASSOCIATION WITH HYDROCEPHALUS, Confirmed for LHERMITTE-DUCLOS DISEASE, Confirmed for PROTEUS SYNDROME and Confirmed for MACROCEPHALY/AUTISM SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | PTEN | Rebecca Foulger Tag mosaicism tag was added to gene: PTEN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | PTEN | Rebecca Foulger commented on gene: PTEN: Mosaicism tag added based on original PAGE file which records Mosaic MOI for PROTEUS SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | PTEN | Rebecca Foulger reviewed gene: PTEN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | PTEN | Rebecca Foulger Added phenotypes MACROCEPHALY/AUTISM SYNDROME for gene: PTEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | PTEN | Rebecca Foulger Added phenotypes PROTEUS SYNDROME for gene: PTEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | PTEN | Rebecca Foulger Added phenotypes LHERMITTE-DUCLOS DISEASE for gene: PTEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | PTEN | Rebecca Foulger Added phenotypes VACTERL ASSOCIATION WITH HYDROCEPHALUS for gene: PTEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | PTEN | Rebecca Foulger Added phenotypes COWDEN DISEASE for gene: PTEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | PTEN |
Rebecca Foulger gene: PTEN was added gene: PTEN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PTEN were set to BANNAYAN-ZONANA SYNDROME |
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