NMNAT2

nicotinamide nucleotide adenylyltransferase 2
OMIM: 608701, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
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