TBX2:Ensemblv115

T-box transcription factor 2
OMIM: 600747, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber TBX2 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 1.0

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

Amber TBX2 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 2.0

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

Green TBX2 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
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 1.0

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