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FASTKD2

Synonyms
COXPD44, KIAA0971
External resources
Summary
This gene encodes a protein that is localized in the mitochondrial inner compartment and that may play a role in mitochondrial apoptosis. Nonsense mutations have been reported to result in cytochrome c oxidase deficiency.

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
8
Likely pathogenic
0
VUS
1,860
Likely benign
584
Benign
130

Patient Phenotypes

Proportions of phenotypes among 8 patients carrying pathogenic or likely pathogenic variants on FASTKD2 gene are displayed below. The following symptoms were found in patients with a variant in FASTKD2. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
75%
Abnormality of head or neck
37.5%
Abnormality of the genitourinary system
37.5%
Abnormality of the musculoskeletal system
37.5%
Growth abnormality
37.5%
Abnormality of the cardiovascular system
25%
Abnormality of the eye
25%
Abnormality of limbs
12.5%
Abnormality of prenatal development or birth
12.5%
Abnormality of the digestive system
12.5%
Abnormality of the respiratory system
12.5%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the ear
0%
Abnormality of the endocrine 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%

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