Activity
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6 actions
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| Fetal anomalies v5.16 | MMP2 | Achchuthan Shanmugasundram commented on gene: MMP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | MMP2 | Samantha Doyle reviewed gene: MMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: 16542393; Phenotypes: Multicentric osteolysis, nodulosis, and arthropathy, MIM#259600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | MMP2 |
Achchuthan Shanmugasundram gene: MMP2 was added gene: MMP2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: MMP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMP2 were set to 16542393 Phenotypes for gene: MMP2 were set to Multicentric osteolysis, nodulosis, and arthropathy, OMIM:259600 |
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| Fetal anomalies v0.134 | MMP21 | Rebecca Foulger edited their review of gene: MMP21: 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 | MMP21 | Rebecca Foulger reviewed gene: MMP21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | MMP21 |
Rebecca Foulger gene: MMP21 was added gene: MMP21 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MMP21 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MMP21 were set to MMP21-associated heterotaxy |
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