| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v1.890 | NMNAT2 | Arina Puzriakova Publications for gene: NMNAT2 were set to 31136762; 31132363; 23082226 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.880 | NMNAT2 | Rhiannon Mellis reviewed gene: NMNAT2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 33442022; Phenotypes: Hydrops fetalis, brain malformation, oligohydramnios; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.344 | NMNAT2 | Rebecca Foulger Classified gene: NMNAT2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.344 | NMNAT2 | Rebecca Foulger Added comment: Comment on list classification: NMNAT2 was added to the Fetal anomalies panel and rated Green by Michael Coleman (University of Cambridge). Not yet associated with a disorder in OMIM or Gene2Phenotype. Currently 2 fetal siblings (1 case) in PMID:31136762 and a mouse model. Rated as Amber awaiting clinical feedback and further cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.344 | NMNAT2 | Rebecca Foulger Gene: nmnat2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.343 | NMNAT2 | Rebecca Foulger commented on gene: NMNAT2: PMID:31132363, Huppke et al., 2019 report a homozygous missense variant (c.281C>T (T94M) in NMNAT2 in 2 siblings with childhood onset polyneuropathy with erythromelalgia: symptoms were first seen age 4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.343 | NMNAT2 | Rebecca Foulger commented on gene: NMNAT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.343 | NMNAT2 | Rebecca Foulger Publications for gene: NMNAT2 were set to PMID: 31136762 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.341 | NMNAT2 |
Michael Coleman gene: NMNAT2 was added gene: NMNAT2 was added to Fetal anomalies. Sources: Research Mode of inheritance for gene: NMNAT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NMNAT2 were set to PMID: 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 Added comment: Closely related phenotype in homozygous null mouse (PMID 23946398) Sources: Research |
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