PanelApp (staging)
  1. Genes and Genomic Entities
  2. GTPBP2

GTPBP2

GTP binding protein 2
OMIM: 607434, ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green GTPBP2 in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Jaberi-Elahi syndrome, MIM#617988

Green GTPBP2 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.295

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Jaberi-Elahi syndrome, MIM#617988

Green GTPBP2 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.108

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Jaberi-Elahi syndrome, MIM#617988

    Green GTPBP2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Jaberi-Elahi syndrome, MIM#617988

    Green GTPBP2 in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.272

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Jaberi-Elahi syndrome, MIM#617988

    Red GTPBP2 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review
    Phenotypes
    • Jaberi-Elahi syndrome, MIM#617988

    Amber GTPBP2 in Neurodegeneration with brain iron accumulation


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Jaberi-Elahi syndrome, MIM# 617988

    Green GTPBP2 in Fetal anomalies


    Version 1.313

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Jaberi-Elahi syndrome MIM#617988

    Red GTPBP2 in Prepair 1000+


    Level 2: Screening
    Version 1.1566

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert Review
    Phenotypes
    • Jaberi-Elahi syndrome, MIM#617988
    Tags
    • for review