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CLDN19

Synonyms
HOMG5
External resources
Summary
The product of this gene belongs to the claudin family. It plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. Defects in this gene are the cause of hypomagnesemia renal with ocular involvement (HOMGO). HOMGO is a progressive renal disease characterized by primary renal magnesium wasting with hypomagnesemia, hypercalciuria and nephrocalcinosis associated with severe ocular abnormalities such as bilateral chorioretinal scars, macular colobomata, significant myopia and nystagmus. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene.

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
1
Likely pathogenic
0
VUS
329
Likely benign
166
Benign
0

Patient Phenotypes

Proportions of phenotypes among 1 patients carrying pathogenic or likely pathogenic variants on CLDN19 gene are displayed below. The following symptoms were found in patients with a variant in CLDN19. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of limbs
100%
Abnormality of metabolism homeostasis
100%
Abnormality of the cardiovascular system
100%
Abnormality of the digestive system
100%
Abnormality of the eye
100%
Abnormality of the genitourinary system
100%
Abnormality of the musculoskeletal system
100%
Abnormality of the nervous system
100%
Growth abnormality
100%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of head or neck
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the immune 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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