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DYSF

Synonyms
FER1L1, LGMD2B, LGMDR2, MMD1
External resources
Summary
The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. 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
81
Likely pathogenic
13
VUS
18,590
Likely benign
7,503
Benign
161

Patient Phenotypes

Proportions of phenotypes among 74 patients carrying pathogenic or likely pathogenic variants on DYSF gene are displayed below. The following symptoms were found in patients with a variant in DYSF. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
43.2%
Abnormality of the nervous system
25.7%
Abnormality of the cardiovascular system
21.6%
Abnormality of head or neck
20.3%
Abnormality of the eye
16.2%
Abnormality of the ear
13.5%
Abnormality of metabolism homeostasis
10.8%
Growth abnormality
10.8%
Abnormality of limbs
9.5%
Abnormality of the integument
6.8%
Abnormality of the genitourinary system
5.4%
Abnormality of blood and blood forming tissues
4.1%
Abnormality of prenatal development or birth
4.1%
Abnormality of the immune system
4.1%
Abnormality of the digestive system
2.7%
Abnormality of the respiratory system
1.4%
Neoplasm
1.4%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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