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L3MBTL1

Synonyms
H-L(3)MBT, L3MBTL, ZC2HC3, dJ138B7.3
External resources
Summary
This gene represents a polycomb group gene. The encoded protein functions to regulate gene activity, likely via chromatin modification. The encoded protein may also be necessary for mitosis. Alternatively spliced transcript variants encoding different isoforms have been identified.

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
25
Likely pathogenic
0
VUS
5,530
Likely benign
424
Benign
0

Patient Phenotypes

Proportions of phenotypes among 25 patients carrying pathogenic or likely pathogenic variants on L3MBTL1 gene are displayed below. The following symptoms were found in patients with a variant in L3MBTL1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40%
Abnormality of head or neck
28%
Growth abnormality
28%
Abnormality of the cardiovascular system
20%
Abnormality of blood and blood forming tissues
16%
Abnormality of the musculoskeletal system
16%
Abnormality of metabolism homeostasis
12%
Abnormality of the digestive system
8%
Abnormality of the integument
8%
Neoplasm
8%
Abnormality of limbs
4%
Abnormality of the endocrine system
4%
Abnormality of the eye
4%
Abnormality of the genitourinary system
4%
Abnormality of the immune system
4%
Abnormality of the respiratory system
4%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the ear
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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