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NIPAL4

Synonyms
ARCI6, ICHTHYIN, ICHYN, SLC57A6
External resources
Summary
This gene likely encodes a membrane receptor. Mutations in this gene have been associated with autosomal recessive congenital ichthyosis.

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
1
VUS
1,375
Likely benign
806
Benign
60

Patient phenotypes

Proportions of phenotypes among 20 patients carrying pathogenic or likely pathogenic variants on NIPAL4 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
35%
Abnormality of the cardiovascular system
30%
Abnormality of the musculoskeletal system
30%
Abnormality of limbs
25%
Abnormality of head or neck
20%
Abnormality of the eye
20%
Abnormality of the digestive system
15%
Abnormality of the integument
15%
Abnormality of the immune system
10%
Constitutional symptom
10%
Growth abnormality
10%
Abnormal cellular phenotype
5%
Abnormality of blood and blood-forming tissues
5%
Abnormality of the ear
5%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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