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MFF

Synonyms
C2orf33, EMPF2, GL004
External resources
Summary
This is a nuclear gene encoding a protein that functions in mitochondrial and peroxisomal fission. The encoded protein recruits dynamin-1-like protein (DNM1L) to mitochondria. There are multiple pseudogenes for this gene on chromosomes 1, 5, and X. Alternative splicing results in multiple transcript variants.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
478
Likely pathogenic
1
VUS
5,923
Likely benign
553
Benign
0

Patient phenotypes

Proportions of phenotypes among 403 patients carrying pathogenic or likely pathogenic variants on MFF gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
38.2%
Abnormality of the musculoskeletal system
33.5%
Abnormality of the eye
28.5%
Abnormality of head or neck
22.1%
Abnormality of the integument
13.6%
Growth abnormality
13.4%
Abnormality of limbs
12.4%
Abnormality of the ear
12.2%
Abnormality of the cardiovascular system
11.2%
Abnormality of the genitourinary system
10.7%
Abnormality of the digestive system
7.7%
Abnormality of the immune system
6.9%
Abnormality of blood and blood-forming tissues
5.7%
Neoplasm
3.2%
Abnormality of the endocrine system
2.7%
Abnormality of the respiratory system
2.7%
Constitutional symptom
1.7%
Abnormality of prenatal development or birth
1.5%
Abnormality of the breast
1.2%
Abnormal cellular phenotype
0.5%
Abnormality of the voice
0.5%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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