Activity
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12 actions
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| Fetal anomalies v6.45 | EFL1 | Arina Puzriakova Phenotypes for gene: EFL1 were changed from Shwachman-Diamond syndrome 2 to Shwachman-Diamond syndrome 2, OMIM:617941 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.24 | EFL1 | Esther Kinning reviewed gene: EFL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31151987, 29970384, 34115847, 28331068; Phenotypes: Shwachman-Diamond syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.21 | EFL1 |
Arina Puzriakova gene: EFL1 was added gene: EFL1 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: EFL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EFL1 were set to 28331068; 31151987; 34115847; 29970384 Phenotypes for gene: EFL1 were set to Shwachman-Diamond syndrome 2 |
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| Fetal anomalies v0.311 | SBDS | Rebecca Foulger edited their review of gene: SBDS: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team). Outcome of review: Shwachman-Diamond syndrome: skeletal defects usually develop within first 2 years but PMID:23254443 reports a case with prenatal onset of short limbs. Therefore Green rating is appropriate.; Changed rating: GREEN; Changed publications: 23254443 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.229 | WAC |
Rebecca Foulger Source Expert Review Red was added to WAC. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.228 | WAC | Rebecca Foulger edited their review of gene: WAC: 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. Action taken: Demoted WAC gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | WAC | Rebecca Foulger reviewed gene: WAC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SRP54 | Rebecca Foulger commented on gene: SRP54: DDG2P rating in original PAGE list: Probable for Syndromic neutropenia with Shwachman-Diamond-like features | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | WAC | Rebecca Foulger Added phenotypes WAC syndrome for gene: WAC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | WAC |
Rebecca Foulger gene: WAC was added gene: WAC was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: WAC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: WAC were set to INTELLECTUAL DISABILITY |
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| Fetal anomalies v0.1 | SRP54 |
Rebecca Foulger gene: SRP54 was added gene: SRP54 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SRP54 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SRP54 were set to Syndromic neutropenia with Shwachman-Diamond-like features |
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| Fetal anomalies v0.1 | SBDS |
Rebecca Foulger gene: SBDS was added gene: SBDS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SBDS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SBDS were set to SHWACHMAN-DIAMOND SYNDROME |
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