INPP4A

inositol polyphosphate-4-phosphatase type I A
OMIM: 600916, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green INPP4A in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 1.98

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, MIM# 621354

Green INPP4A in Mendeliome


Version 1.4216

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, MIM# 621354

Green INPP4A in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.405

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, MIM# 621354

Green INPP4A in Muscular dystrophy and myopathy_Paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 1.120

Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, MIM# 621354

    Green INPP4A in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.362

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, MIM# 621354

    Green INPP4A in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.638

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, MIM# 621354

    Green INPP4A in Hereditary Spastic Paraplegia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.139

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, MIM# 621354