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| Fetal anomalies v8.26 | SPATA5L1 | Ida Ertmanska commented on gene: SPATA5L1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v8.25 | SPATA5L1 | Natalie Chandler reviewed gene: SPATA5L1: Rating: GREEN; Mode of pathogenicity: ; Publications: 37902276, 41375745, 34626583; Phenotypes: Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616, neurodevelopmental disorder with hearing loss and spasticity, MONDO:0859206; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v8.23 | SPATA5L1 |
Ida Ertmanska gene: SPATA5L1 was added gene: SPATA5L1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: SPATA5L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPATA5L1 were set to 37902276; 41375745; 34626583 Phenotypes for gene: SPATA5L1 were set to Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616; neurodevelopmental disorder with hearing loss and spasticity, MONDO:0859206 |
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