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 0.416

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 1.2302

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 1.313

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 1.116

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