NMNAT2

nicotinamide nucleotide adenylyltransferase 2
OMIM: 608701, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Red NMNAT2 in Hydrocephalus Version 2.5 Signed off v.2.3 on 2 Mar 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Research 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
Red NMNAT2 in Ataxia and cerebellar anomalies - narrow panel Version 2.39 Signed off v.2.23 on 8 Oct 2020 Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review 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
Red NMNAT2 in Pain syndromes Level 3: Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Research Phenotypes polyneuropathy erythromelalgia
Red NMNAT2 in Paroxysmal central nervous system disorders Version 1.10 Signed off v.1.2 on 27 Feb 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes polyneuropathy erythromelalgia
Red NMNAT2 in Cerebellar hypoplasia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.41	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Research 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
Amber NMNAT2 in Fetal anomalies Version 1.175 Signed off v.1.92 on 21 Aug 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Research 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