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| Ataxia and cerebellar anomalies - narrow panel v1.7 | NMNAT2 |
Louise Daugherty gene: NMNAT2 was added gene: NMNAT2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Mode of inheritance for gene: NMNAT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NMNAT2 were set to 31136762 Phenotypes for gene: NMNAT2 were set to hydrops fetalis; cystic hygroma; bilateral hypoplastic lungs; hydrocephalus; hypoplastic cerebellum; severely reduced skeletal muscle mass or absence; flexion contractures of all extremities; micrognathia; cleft palate; hydropic placenta Review for gene: NMNAT2 was set to RED Added comment: New gene added by external expert (Michael Coleman (University of Cambridge), 11 Sep 2019) on Cerebellar hypoplasia panel v 1.37 and reviewed by curation team: Although appropriate to include on the panel the gene has been rated Red until there is more information to support gene-disease association. The current information in the literature does not support a Green rating as suggested by external reviewer, there are not sufficient cases, only an animal model (PMID:31136762) Sources: Expert Review |
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