Activity
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| Fetal anomalies v8.26 | UNC13A | Ida Ertmanska commented on gene: UNC13A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v8.25 | UNC13A | Soo-Mi Park reviewed gene: UNC13A: Rating: GREEN; Mode of pathogenicity: ; Publications: 41125872, 36447687, 27648472; Phenotypes: Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, OMIM:621455, neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MONDO:0980940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v8.23 | UNC13A |
Ida Ertmanska gene: UNC13A was added gene: UNC13A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: UNC13A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UNC13A were set to 41125872; 36447687; 27648472 Phenotypes for gene: UNC13A were set to Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, OMIM:621455; neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MONDO:0980940 |
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