INPP5K

inositol polyphosphate-5-phosphatase K
OMIM: 607875, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green INPP5K in Neuromuscular disorders


Version 5.255
Latest signed off version: v5.43 (4 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment
  • Congenital Muscular Dystrophy Overlapping Marinesco-Sjogren Syndrome and Dystroglycanopathy

Green INPP5K in Cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.88
Latest signed off version: v2.76 (5 Aug 2021)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital Muscular Dystrophy Overlapping Marinesco-Sjogren Syndrome and Dystroglycanopathy
  • Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

Green INPP5K in Congenital muscular dystrophy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.20
Latest signed off version: v2.2 (2 Mar 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London South GLH
    • Expert Review Green
    • Literature
    Phenotypes
    • Congenital Muscular Dystrophy Overlapping Marinesco-Sjogren Syndrome and Dystroglycanopathy
    • Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

    Amber INPP5K in Fetal anomalies


    Version 1.749
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Muscular dystrophy, congenital, with cataracts and intellectual disability

    Amber INPP5K in DDG2P


    Version 2.50
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • Muscular dystrophy, congenital, with cataracts and intellectual disability

    Green INPP5K in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1396
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Literature
    Phenotypes
    • Congenital Muscular Dystrophy Overlapping Marinesco-Sjogren Syndrome and Dystroglycanopathy
    • Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

    Green INPP5K in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Muscular dystrophy, congenital, with cataracts and intellectual disability, 617404