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GRAMD4

Synonyms
DIP
External resources
Summary
GRAMD4 is a mitochondrial effector of E2F1 (MIM 189971)-induced apoptosis (Stanelle et al., 2005

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
6
Likely pathogenic
12
VUS
3,922
Likely benign
153
Benign
0

Patient Phenotypes

Proportions of phenotypes among 17 patients carrying pathogenic or likely pathogenic variants on GRAMD4 gene are displayed below. The following symptoms were found in patients with a variant in GRAMD4. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
70.6%
Abnormality of the musculoskeletal system
58.8%
Abnormality of the nervous system
52.9%
Abnormality of limbs
23.5%
Abnormality of the genitourinary system
23.5%
Abnormality of the ear
17.6%
Growth abnormality
17.6%
Abnormality of the eye
11.8%
Abnormality of the integument
11.8%
Abnormality of blood and blood forming tissues
5.9%
Abnormality of metabolism homeostasis
5.9%
Abnormality of prenatal development or birth
5.9%
Abnormality of the cardiovascular system
5.9%
Abnormality of the immune system
5.9%
Abnormality of the respiratory system
5.9%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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