NIPA1

non imprinted in Prader-Willi/Angelman syndrome 1
OMIM: 608145, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green NIPA1 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spastic paraplegia 6, autosomal dominant, MIM# 600363
  • MONDO:0010878

Green NIPA1 in Hereditary Spastic Paraplegia - adult onset


Level 2: Neurology and neurodevelopmental disorders
Version 1.11

Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    • Royal Melbourne Hospital
    Phenotypes
    • Spastic paraplegia 6, autosomal dominant, MIM# 600363
    • MONDO:0010878

    Green NIPA1 in Hereditary Spastic Paraplegia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.76

    Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spastic paraplegia 6, autosomal dominant, MIM# 600363

    Green NIPA1 in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.14

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Spastic paraplegia 6

    Red NIPA1 STR in Repeat Disorders


    Version 0.167

    review Unknown
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Amyotrophic lateral sclerosis
    Tags
    • adult-onset