Activity
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3 actions
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| Fetal anomalies v8.26 | NAE1 | Ida Ertmanska commented on gene: NAE1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v8.25 | NAE1 | Esther Kinning reviewed gene: NAE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36608681; Phenotypes: Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, OMIM:620210, neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, MONDO:0859361; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v8.23 | NAE1 |
Ida Ertmanska gene: NAE1 was added gene: NAE1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: NAE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAE1 were set to 36608681 Phenotypes for gene: NAE1 were set to Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, OMIM:620210; neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, MONDO:0859361 |
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