NIPA1

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

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green NIPA1 in Mendeliome


Version 1.4232

1 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


Level 2: Neurology and neurodevelopmental disorders
Version 1.139

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 1 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 1.55

    Component of the following Super Panels:

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

    Red NIPA1_ALS_GCG STR in Repeat Disorders


    Version 0.272

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

    Red ISCA-37448-Loss Region in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.650

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • ClinGen
    • ClinGen
    Phenotypes
    • Chromosome 15q11.2 deletion syndrome, MIM#615656

    Red ISCA-37448-Loss Region in Common deletion and duplication syndromes


    Version 0.155

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • ClinGen
    Phenotypes
    • Chromosome 15q11.2 deletion syndrome, MIM#615656