Home > Gene Browser > GATA6

GATA6

Synonyms
-
External resources
Summary
This gene is a member of a small family of zinc finger transcription factors that play an important role in the regulation of cellular differentiation and organogenesis during vertebrate development. This gene is expressed during early embryogenesis and localizes to endo- and mesodermally derived cells during later embryogenesis and thereby plays an important role in gut, lung, and heart development. Mutations in this gene are associated with several congenital defects.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
0
Likely pathogenic
1
VUS
995
Likely benign
1,017
Benign
422

Patient Phenotypes

Proportions of phenotypes among 1 patients carrying pathogenic or likely pathogenic variants on GATA6 gene are displayed below. The following symptoms were found in patients with a variant in GATA6. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
100%
Abnormality of prenatal development or birth
100%
Abnormality of the cardiovascular system
100%
Abnormality of the digestive system
100%
Abnormality of the ear
100%
Abnormality of the musculoskeletal system
100%
Abnormality of the nervous system
100%
Abnormality of the respiratory system
100%
Growth abnormality
100%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the eye
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes.