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LMNB1

Synonyms
ADLD, LMN, LMN2, LMNB, MCPH26
External resources
Summary
This gene encodes one of the two B-type lamin proteins and is a component of the nuclear lamina. A duplication of this gene is associated with autosomal dominant adult-onset leukodystrophy (ADLD). 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
21
Likely pathogenic
0
VUS
915
Likely benign
3,786
Benign
0

Patient phenotypes

Proportions of phenotypes among 13 patients carrying pathogenic or likely pathogenic variants on LMNB1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
61.5%
Growth abnormality
38.5%
Abnormality of head or neck
30.8%
Abnormality of the immune system
15.4%
Abnormality of blood and blood-forming tissues
7.7%
Abnormality of the cardiovascular system
7.7%
Abnormality of the ear
7.7%
Abnormality of the eye
7.7%
Abnormality of the musculoskeletal system
7.7%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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