| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v2.10 | EDA |
Arina Puzriakova Tag Q3_22_rating was removed from gene: EDA. Tag Q3_22_NHS_review was removed from gene: EDA. |
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| Fetal anomalies v2.10 | EDA | Arina Puzriakova edited their review of gene: EDA: Added comment: The rating of this gene has been updated to Red following NHS Genomic Medicine Service approval.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v2.9 | EDA |
Arina Puzriakova Source Expert Review Red was added to EDA. Source NHS GMS was added to EDA. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v1.980 | EDA | Eleanor Williams Tag Q3_22_expert_review was removed from gene: EDA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.980 | EDA | Eleanor Williams Tag Q3_22_expert_review tag was added to gene: EDA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.932 | EDA | Arina Puzriakova Classified gene: EDA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.932 | EDA | Arina Puzriakova Added comment: Comment on list classification: This gene should be demoted from Green to Red at the next GMS panel update in line with the recent Red review by Rhiannon Mellis (GOSH). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.932 | EDA | Arina Puzriakova Gene: eda has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.931 | EDA | Arina Puzriakova Phenotypes for gene: EDA were changed from TOOTH AGENESIS SELECTIVE X-LINKED TYPE 1; ECTODERMAL DYSPLASIA TYPE 1 to Ectodermal dysplasia 1, hypohidrotic, X-linked, OMIM:305100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.930 | EDA |
Arina Puzriakova Tag Q3_22_rating tag was added to gene: EDA. Tag Q3_22_NHS_review tag was added to gene: EDA. |
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| Fetal anomalies v1.900 | EDA | Rhiannon Mellis reviewed gene: EDA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.226 | EDAR |
Rebecca Foulger Source Expert Review Red was added to EDAR. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Fetal anomalies v0.225 | EDAR | Rebecca Foulger edited their review of gene: EDAR: 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: Phenotype is not fetally-relevant. Additional notes from clinical review: In agreement with previous review by Deirdre Cilliers, no structural phenotypes would present on a fetal scan. Action taken: Demoted EDAR gene rating from Amber to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.134 | EDA | Rebecca Foulger edited their review of gene: EDA: 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 v0.81 | EDAR | Rebecca Foulger Classified gene: EDAR as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.81 | EDAR | Rebecca Foulger Gene: edar has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.80 | EDAR | Rebecca Foulger commented on gene: EDAR: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019): No [EDAR should not be on the Fetal anomalies panel]. The AD and AR ectodermal dysplasia are not going to present as structural anomalies on scan and it would be difficult if there is a VUS present. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.80 | EDAR | Rebecca Foulger Phenotypes for gene: EDAR were changed from Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive to Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | EDAR | Rebecca Foulger commented on gene: EDAR: DDG2P rating in original PAGE list: Confirmed for Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | EDA | Rebecca Foulger commented on gene: EDA: DDG2P rating in original PAGE list: Confirmed for ECTODERMAL DYSPLASIA TYPE 1 and Confirmed for TOOTH AGENESIS SELECTIVE X-LINKED TYPE 1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | EDAR | Rebecca Foulger reviewed gene: EDAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | EDA | Rebecca Foulger reviewed gene: EDA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | GPX4 |
Rebecca Foulger gene: GPX4 was added gene: GPX4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: GPX4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GPX4 were set to SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE |
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| Fetal anomalies v0.1 | EDAR |
Rebecca Foulger gene: EDAR was added gene: EDAR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: EDAR was set to Unknown Phenotypes for gene: EDAR were set to Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive |
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| Fetal anomalies v0.1 | EDA | Rebecca Foulger Added phenotypes TOOTH AGENESIS SELECTIVE X-LINKED TYPE 1 for gene: EDA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | EDA |
Rebecca Foulger gene: EDA was added gene: EDA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: EDA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: EDA were set to ECTODERMAL DYSPLASIA TYPE 1 |
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