Cerebellar hypoplasia
Gene: NMNAT2Comment on list classification: New gene added by external expert 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)Created: 20 Sep 2019, 4:54 p.m. | Last Modified: 20 Sep 2019, 4:54 p.m.
Panel Version: 1.37
Closely related phenotype in homozygous null mouse (PMID 23946398)
Sources: ResearchCreated: 11 Sep 2019, 9:50 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
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
Publications
Gene: nmnat2 has been classified as Red List (Low Evidence).
gene: NMNAT2 was added gene: NMNAT2 was added to Cerebellar hypoplasia. Sources: Research 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 Penetrance for gene: NMNAT2 were set to Complete Review for gene: NMNAT2 was set to GREEN