Home > Gene Browser > NALCN

NALCN

Synonyms
CLIFAHDD, CanIon, IHPRF, IHPRF1, INNFD, VGCNL1, bA430M15.1
External resources
Summary
This gene encodes a voltage-independent, nonselective cation channel which belongs to a family of voltage-gated sodium and calcium channels that regulates the resting membrane potential and excitability of neurons. This family is expressed throughout the nervous system and conducts a persistent sodium leak current that contributes to tonic neuronal excitability. The encoded protein forms a channelosome complex that includes G-protein-coupled receptors, UNC-79, UNC-80, NCA localization factor-1, and src family tyrosine kinases. Naturally occurring mutations in this gene are associated with infantile neuroaxonal dystrophy, infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) syndrome, and congenital contractures of the limbs and face with hypotonia and developmental delay (CLIFAHDD) syndrome. A knockout of the orthologous gene in mice results in paralysis with a severely disrupted respiratory rhythm, and lethality within 24 hours after birth.

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
19
Likely pathogenic
0
VUS
8,696
Likely benign
17,755
Benign
2,009

Patient phenotypes

Proportions of phenotypes among 17 patients carrying pathogenic or likely pathogenic variants on NALCN gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
47.1%
Abnormality of head or neck
35.3%
Abnormality of the musculoskeletal system
35.3%
Abnormality of the ear
17.6%
Abnormality of the eye
17.6%
Growth abnormality
17.6%
Abnormality of limbs
11.8%
Abnormality of the genitourinary system
11.8%
Abnormality of the integument
11.8%
Abnormality of blood and blood-forming tissues
5.9%
Neoplasm
5.9%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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