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ZMYM2

Synonyms
FIM, MYM, RAMP, SCLL, ZNF198
External resources
Summary
The protein encoded by this gene is a zinc finger protein that may act as a transcription factor. The encoded protein may be part of a BHC histone deacetylase complex. Translocation of this gene with the fibroblast growth factor receptor-1 gene (FGFR1) results in a fusion gene, which may be a cause of stem cell leukemia lymphoma syndrome (SCLL). Several transcript variants encoding the same protein have been found for this gene.

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
5
Likely pathogenic
0
VUS
5,558
Likely benign
503
Benign
0

Patient Phenotypes

Proportions of phenotypes among 5 patients carrying pathogenic or likely pathogenic variants on ZMYM2 gene are displayed below. The following symptoms were found in patients with a variant in ZMYM2. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
40%
Abnormality of the musculoskeletal system
40%
Abnormality of the nervous system
40%
Abnormality of blood and blood forming tissues
20%
Abnormality of metabolism homeostasis
20%
Abnormality of the cardiovascular system
20%
Abnormality of the digestive system
20%
Abnormality of the ear
20%
Abnormality of the eye
20%
Constitutional symptom
20%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Growth abnormality
0%
Neoplasm
0%

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