Tetralogy of Fallot
- Synonyms
- Fallot tetralogy
- Modes of inheritance
- Autosomal dominant inheritance (Orphanet)
Non-Mendelian inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Genes See tests for all associated and related genes
Also known as: ASD2, TACHD, TOF, VSD1, GATA4
Summary: GATA binding protein 4Also known as: , GATA6
Summary: GATA binding protein 6Also known as: AGS, AGS1, AHD, AWS, CD339, CMT2HH, DCHE, HJ1, JAGL1, JAG1
Summary: jagged canonical Notch ligand 1Also known as: CHNG5, CSX, CSX1, HLHS2, NKX2.5, NKX2E, NKX4-1, VSD3, NKX2-5
Summary: NK2 homeobox 5Also known as: CAFS, CATCH22, CTHM, DGCR, DGS, DORV, TBX1C, TGA, VCF, VCFS, TBX1
Summary: T-box transcription factor 1Also known as: DIH3, FOG2, SRXY9, ZC2HC11B, ZNF89B, hFOG-2, ZFPM2
Summary: zinc finger protein, FOG family member 2
Clinical features
Help- Abnormality of head or neck
- Broad forehead
Broad forehead
- MedGen UID: 338610
- Concept ID: C1849089
- Finding: Finding
Abnormality of head or neck
- Broad forehead
- Abnormality of limbs
- Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
- MedGen UID: 340456
- Concept ID: C1850049
- Finding: Congenital Abnormality
Abnormality of limbs
- Clinodactyly of the 5th finger
- Abnormality of the cardiovascular system
- Tetralogy of Fallot
Tetralogy of Fallot
- MedGen UID: 21498
- Concept ID: C0039685
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Tetralogy of Fallot
- Abnormality of the eye
- Proptosis
Proptosis
- MedGen UID: 41917
- Concept ID: C0015300
- Finding: Disease or Syndrome
Abnormality of the eye
- Proptosis
- Abnormality of the integument
- Preauricular pit
Preauricular pit
- MedGen UID: 120587
- Concept ID: C0266610
- Finding: Congenital Abnormality
Abnormality of the integument
- Preauricular pit
- ACMG ACT, 2013American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Hypoxemia, Critical Congenital Heart Disease, 2013
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