PanelApp (stage)
  1. Genes and Genomic Entities
  2. TNNI2

TNNI2

troponin I2, fast skeletal type
OMIM: 191043, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green TNNI2 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.411

Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Arthrogryposis, distal, type 2B1, MIM# 601680

    Green TNNI2 in Mendeliome


    Version 1.1891

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Arthrogryposis, distal, type 2B1 (MIM#601680)

    Green TNNI2 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Distal arthrogryposis syndrome 2b

    Green TNNI2 in Fetal anomalies


    Version 1.255

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Arthrogryposis multiplex congenita, distal, type 2B MIM#601680

    Red TNNI2 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Arthrogryposis, distal, type 2B1 MIM#601680