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ZMYM3

Synonyms
DXS6673E, MYM, XFIM, ZNF198L2, ZNF261
External resources
Summary
This gene is located on the X chromosome and is subject to X inactivation. It is highly conserved in vertebrates and most abundantly expressed in the brain. The encoded protein is a component of histone deacetylase-containing multiprotein complexes that function through modifying chromatin structure to keep genes silent. A chromosomal translocation (X;13) involving this gene is associated with X-linked cognitive disability. Several alternatively spliced transcript variants 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
55
Likely pathogenic
0
VUS
2,209
Likely benign
734
Benign
0

Patient Phenotypes

Proportions of phenotypes among 49 patients carrying pathogenic or likely pathogenic variants on ZMYM3 gene are displayed below. The following symptoms were found in patients with a variant in ZMYM3. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
51%
Abnormality of the eye
30.6%
Abnormality of the musculoskeletal system
26.5%
Abnormality of head or neck
24.5%
Abnormality of metabolism homeostasis
16.3%
Abnormality of the genitourinary system
16.3%
Growth abnormality
16.3%
Abnormality of the cardiovascular system
14.3%
Abnormality of the integument
12.2%
Abnormality of the ear
10.2%
Abnormality of limbs
8.2%
Abnormality of the digestive system
6.1%
Abnormality of the immune system
6.1%
Constitutional symptom
6.1%
Abnormality of the respiratory system
4.1%
Neoplasm
4.1%
Abnormality of blood and blood forming tissues
2%
Abnormality of the endocrine system
2%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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