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ANKLE2

Synonyms
KIAA0692, LEMD7, Lem4, MCPH16
External resources
Summary
This gene encodes a member of the LEM family of inner nuclear membrane proteins. The encoded protein functions as a mitotic regulator through postmitotic formation of the nuclear envelope. Mutations in this gene cause morphology defects in the nuclear envelope and BAF hyperphosphorylation.

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
31
Likely pathogenic
3
VUS
8,236
Likely benign
7,144
Benign
198

Patient phenotypes

Proportions of phenotypes among 16 patients carrying pathogenic or likely pathogenic variants on ANKLE2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
50%
Abnormality of the cardiovascular system
37.5%
Abnormality of head or neck
31.3%
Abnormality of the musculoskeletal system
31.3%
Abnormality of the respiratory system
31.3%
Abnormality of the ear
25%
Abnormality of limbs
18.8%
Abnormality of the immune system
18.8%
Abnormality of the integument
18.8%
Abnormality of the eye
12.5%
Growth abnormality
12.5%
Abnormality of prenatal development or birth
6.3%
Abnormality of the digestive system
6.3%
Neoplasm
6.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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