TBX2

T-box 2
OMIM: 600747, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber TBX2 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.418

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Vertebral anomalies and variable endocrine and T-cell dysfunction, MIM# 618223

Amber TBX2 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Vertebral anomalies and variable endocrine and T-cell dysfunction - MIM#618223

Red TBX2 in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.252

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Vertebral anomalies and variable endocrine and T-cell dysfunction, MIM# 618223

Amber TBX2 in Fetal anomalies


Version 1.255

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
  • Literature
Phenotypes
  • Vertebral anomalies and variable endocrine and T-cell dysfunction - MIM#618223
  • Congenital heart disease
  • skeletal abnormalities
  • thymus aplasia