PanelApp
  1. Genes and Genomic Entities
  2. INPP5K

INPP5K

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

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green INPP5K in Cataract


Level 2: Ophthalmological disorders
Version 0.375

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green INPP5K in Mendeliome


Version 1.3499

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy, congenital, with cataracts and intellectual disability MIM#617404

Green INPP5K in Muscular dystrophy and myopathy_Paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 1.108

Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel

    		•  2 reviews Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green INPP5K in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.398

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • congenital muscular dystrophy with cataracts and intellectual disability MONDO:0024607

    Green INPP5K in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Muscular dystrophy, congenital, with cataracts and intellectual disability, 617404 (3), Autosomal recessive

    Amber INPP5K in Fetal anomalies


    Version 1.465

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Genomics England PanelApp
    Phenotypes
    • Muscular dystrophy, congenital, with cataracts and intellectual disability MIM#617404

    Green INPP5K in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Muscular dystrophy, congenital, with cataracts and intellectual disability MIM#617404
    Tags
    • founder