Activity
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24 actions
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| Fetal anomalies v6.121 | PTEN |
Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PTEN. Tag Q3_25_NHS_review was removed from gene: PTEN. |
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| Fetal anomalies v6.120 | PTEN | Achchuthan Shanmugasundram reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.119 | PTEN |
Arina Puzriakova Source Expert Review Green was added to PTEN. Source NHS GMS was added to PTEN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v6.71 | PTEN | Arina Puzriakova Phenotypes for gene: PTEN were changed from COWDEN DISEASE; Cowden syndrome 1; LHERMITTE-DUCLOS DISEASE; PROTEUS SYNDROME; MACROCEPHALY/AUTISM SYNDROME; BANNAYAN-ZONANA SYNDROME; VACTERL ASSOCIATION WITH HYDROCEPHALUS to Cowden syndrome 1, OMIM:158350 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.70 | PTEN |
Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: PTEN. Tag Q3_25_NHS_review tag was added to gene: PTEN. |
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| Fetal anomalies v6.29 | PTEN | Arina Puzriakova reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.28 | PTEN | Sunayna Best commented on gene: PTEN: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.24 | PTEN | Sunayna Best reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: 40261085; Phenotypes: Cowden syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.21 | PTEN |
Arina Puzriakova Source Expert Review Amber was added to PTEN. Mode of inheritance for gene PTEN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Cowden syndrome 1 for gene: PTEN Publications for gene: PTEN were updated from to 40261085 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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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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