TBX2

T-box 2
OMIM: 600747, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Amber TBX2 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.474

1 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

Green TBX2 in Mendeliome


Version 1.3512

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Vertebral anomalies and variable endocrine and T-cell dysfunction - MIM#618223
  • Hearing loss disorder, MONDO:0005365, TBX2-related

Amber TBX2 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.238

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Hearing loss disorder, MONDO:0005365, TBX2-related

Amber TBX2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.410

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

Green TBX2 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.346

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
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 0.278

1 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 1.465

2 reviews 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