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| Fetal anomalies v0.2607 | MBOAT7 | Zornitza Stark Marked gene: MBOAT7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2607 | MBOAT7 | Zornitza Stark Gene: mboat7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2607 | MBOAT7 | Zornitza Stark Phenotypes for gene: MBOAT7 were changed from Intellectual Disability Accompanied by Epilepsy and Autistic Features to Intellectual disability MIM#617188 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2606 | MBOAT7 | Zornitza Stark Publications for gene: MBOAT7 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2316 | MBOAT7 |
Ain Roesley changed review comment from: 20 families with ID and seizures as main features microcephaly reported though OFC at birth are largely unknown low birth weight (>-3SD) reported in 1 family; to: > 20 families with ID and seizures as main features microcephaly reported though OFC at birth are largely unknown low birth weight (>-3SD) reported in 1 family |
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| Fetal anomalies v0.2316 | MBOAT7 | Ain Roesley reviewed gene: MBOAT7: Rating: AMBER; Mode of pathogenicity: None; Publications: 33335874, 32645526, 32744787, 31852446, 31282596, 30701556; Phenotypes: intellectual disability MIM#617188; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MBOAT7 |
Zornitza Stark gene: MBOAT7 was added gene: MBOAT7 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: MBOAT7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MBOAT7 were set to Intellectual Disability Accompanied by Epilepsy and Autistic Features |
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