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| Fetal anomalies v3.144 | PIK3R2 | Arina Puzriakova Phenotypes for gene: PIK3R2 were changed from MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.102 | AKT3 | Arina Puzriakova Phenotypes for gene: AKT3 were changed from HEMIMEGALENCEPHALY AKT3 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.754 | CRADD | Arina Puzriakova Phenotypes for gene: CRADD were changed from Megalencephaly with Variant Lissencephaly to Mental retardation, autosomal recessive 34, with variant lissencephaly, OMIM:614499 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.548 | STRADA | Arina Puzriakova Phenotypes for gene: STRADA were changed from Polyhydramnios, megalencephaly, and symptomatic epilepsy to Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087; Polyhydramnios, megalencephaly, and symptomatic epilepsy, MONDO:0012611 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.187 | STRADA |
Rhiannon Mellis gene: STRADA was added gene: STRADA was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: STRADA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STRADA were set to Polyhydramnios, megalencephaly, and symptomatic epilepsy Review for gene: STRADA was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Hydrocephalus). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Sources: Literature |
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| Fetal anomalies v0.318 | PIK3R2 | Rebecca Foulger edited their review of gene: PIK3R2: Changed rating: GREEN; Changed phenotypes: Megalencephaly, neuronal migrational anomaly, congenital heart defect, heterotopias | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | GALE | Rebecca Foulger edited their review of gene: GALE: Added comment: This gene was reviewed 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: Phenotype includes cataracts. Although unclear if cataracts are congenital, include on panel. Therefore GALE was upgraded from Red to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.310 | GALE |
Rebecca Foulger Source Expert Review Green was added to GALE. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Fetal anomalies v0.273 | PIK3R2 | Rebecca Foulger edited their review of gene: PIK3R2: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a heterozygous de novo likely-pathogenic variant in PIK3R2 in a case where the main ultrasound finding was Megalencephaly, neuronal migrational anomaly, congenital heart defect, heterotopias (Table 1).; Changed rating: AMBER; Changed phenotypes: Megalencephaly, neuronal migrational anomaly, congenital heart defect, heterotopias | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.135 | GALE |
Rebecca Foulger Source Expert Review Red was added to GALE. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.134 | GALE | Rebecca Foulger edited their review of gene: GALE: 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: Phenotype is not fetally-relevant. Action taken: Demoted GALE gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.63 | AKT3 | Rebecca Foulger edited their review of gene: AKT3: Added comment: Additional details for change of rating from Amber ('probable' PAGE rating) to Green: Phenotype is fetally-relevant, and rated Green on the 'Hydrocephalus', 'Malformations of cortical development' and 'Segmental overgrowth disorders' panels. Sufficient evidence to support causation: 3 AKT3 variants and multiple unrelated cases documented on OMIM to support association with 'Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937'.; Changed rating: GREEN; Changed phenotypes: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.12 | AKT3 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Rated Green on relevant V1 panel(s) PLUS phenotype (HEMIMEGALENCEPHALY AKT3) appropriate for fetal panel, as noted by Helen Brittain and Anna de Burca (Genomics England Clinical team). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PIK3R2 | Rebecca Foulger commented on gene: PIK3R2: DDG2P rating in original PAGE list: Confirmed for MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PIK3CA | Rebecca Foulger commented on gene: PIK3CA: DDG2P rating in original PAGE list: Confirmed for CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, Confirmed for HEMIMEGALENCEPHALY PIK3CA and Confirmed for MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GALE | Rebecca Foulger reviewed gene: GALE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CRADD | Rebecca Foulger commented on gene: CRADD: DDG2P rating in original PAGE list: Probable for Megalencephaly with Variant Lissencephaly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CCND2 | Rebecca Foulger commented on gene: CCND2: DDG2P rating in original PAGE list: Confirmed for MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | AKT3 | Rebecca Foulger commented on gene: AKT3: DDG2P rating in original PAGE list: Probable for HEMIMEGALENCEPHALY AKT3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | PIK3CA | Rebecca Foulger commented on gene: PIK3CA: Mosaicism tag added based on original PAGE file which records Mosaic MOI for CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, HEMIMEGALENCEPHALY PIK3CA and MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | AKT3 | Rebecca Foulger commented on gene: AKT3: Mosaicism tag added based on original PAGE file which records Mosaic MOI for HEMIMEGALENCEPHALY AKT3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | RNASET2 |
Rebecca Foulger gene: RNASET2 was added gene: RNASET2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RNASET2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RNASET2 were set to LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY |
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| Fetal anomalies v0.1 | PIK3R2 |
Rebecca Foulger gene: PIK3R2 was added gene: PIK3R2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PIK3R2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PIK3R2 were set to MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 |
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| Fetal anomalies v0.1 | PIK3CA | Rebecca Foulger Added phenotypes MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3 for gene: PIK3CA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | PIK3CA | Rebecca Foulger Added phenotypes HEMIMEGALENCEPHALY PIK3CA for gene: PIK3CA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | MLC1 |
Rebecca Foulger gene: MLC1 was added gene: MLC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MLC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MLC1 were set to LEUKOENCEPHALOPATHY MEGALENCEPHALIC WITH SUBCORTICAL CYSTS |
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| Fetal anomalies v0.1 | GALE |
Rebecca Foulger gene: GALE was added gene: GALE was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GALE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALE were set to EPIMERASE-DEFICIENCY GALACTOSEMIA |
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| Fetal anomalies v0.1 | CRADD |
Rebecca Foulger gene: CRADD was added gene: CRADD was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CRADD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CRADD were set to Megalencephaly with Variant Lissencephaly |
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| Fetal anomalies v0.1 | CCND2 |
Rebecca Foulger gene: CCND2 was added gene: CCND2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CCND2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CCND2 were set to MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME |
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| Fetal anomalies v0.1 | AKT3 |
Rebecca Foulger gene: AKT3 was added gene: AKT3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: AKT3 were set to HEMIMEGALENCEPHALY AKT3 |
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