| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v1.941 | MANBA | Arina Puzriakova Publications for gene: MANBA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.900 | MANBA | Rhiannon Mellis reviewed gene: MANBA: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 33249554; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | MANBA | Rebecca Foulger commented on gene: MANBA: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) under the category of storage disorders. Outcome of review: Rate as Amber- Single case report of neonatal onset seizures & development of hydrocephalus; most cases present later. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.310 | MANBA |
Rebecca Foulger Source Expert Review Amber was added to MANBA. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Fetal anomalies v0.9 | MANBA | Rebecca Foulger reviewed gene: MANBA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | MANBA |
Rebecca Foulger gene: MANBA was added gene: MANBA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MANBA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MANBA were set to LYSOSOMAL BETA-MANNOSIDOSIS |
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