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GTF2IRD2

Synonyms
FP630, GTF2IRD2 alpha, GTF2IRD2A
External resources
Summary
This gene is one of several closely related genes on chromosome 7 encoding proteins containing helix-loop-helix motifs. These proteins may function as regulators of transcription. The encoded protein is unique in that its C-terminus is derived from CHARLIE8 transposable element sequence. This gene is located in a region of chromosome 7 that is deleted in Williams-Beuren syndrome, and loss of this locus may contribute to the cognitive phenotypes observed in this disease. Alternative splicing results in multiple transcript variants.

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
20
Likely pathogenic
0
VUS
6,706
Likely benign
53
Benign
0

Patient Phenotypes

Proportions of phenotypes among 20 patients carrying pathogenic or likely pathogenic variants on GTF2IRD2 gene are displayed below. The following symptoms were found in patients with a variant in GTF2IRD2. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
60%
Abnormality of the eye
20%
Abnormality of head or neck
15%
Abnormality of the musculoskeletal system
15%
Abnormality of the integument
10%
Abnormality of limbs
5%
Abnormality of the digestive system
5%
Abnormality of the ear
5%
Abnormality of the endocrine system
5%
Abnormality of the genitourinary system
5%
Growth abnormality
5%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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