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| Fetal anomalies v0.134 | ASPA | Rebecca Foulger edited their review of gene: ASPA: 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 v0.9 | ASPA | Rebecca Foulger reviewed gene: ASPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | ASPA |
Rebecca Foulger gene: ASPA was added gene: ASPA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ASPA were set to CANAVAN DISEASE |
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| Fetal anomalies v0.1 | ASNS |
Rebecca Foulger gene: ASNS was added gene: ASNS was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: ASNS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ASNS were set to Asparagine synthetase deficiency 615574 |
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| Fetal anomalies v0.1 | AGA |
Rebecca Foulger gene: AGA was added gene: AGA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGA were set to ASPARTYLGLUCOSAMINURIA |
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