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MAK

Synonyms
RP62
External resources
Summary
The product of this gene is a serine/threonine protein kinase related to kinases involved in cell cycle regulation. Studies of the mouse and rat homologs have localized the kinase to the chromosomes during meiosis in spermatogenesis, specifically to the synaptonemal complex that exists while homologous chromosomes are paired. Mutations in this gene have been associated with ciliary defects resulting in retinitis pigmentosa 62. Alternative splicing results in multiple transcript variants.

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
22
Likely pathogenic
1
VUS
1,499
Likely benign
553
Benign
206

Patient phenotypes

Proportions of phenotypes among 22 patients carring pathogenic or likely pathogenic variants on MAK gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
45.5%
Abnormality of head or neck
31.8%
Abnormality of the musculoskeletal system
31.8%
Abnormality of the ear
27.3%
Abnormality of the cardiovascular system
13.6%
Abnormality of the eye
13.6%
Growth abnormality
13.6%
Abnormality of limbs
9.1%
Abnormality of the immune system
9.1%
Abnormality of the integument
9.1%
Abnormality of blood and blood-forming tissues
4.5%
Abnormality of prenatal development or birth
4.5%
Abnormality of the endocrine system
4.5%
Abnormality of the genitourinary system
4.5%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the digestive system
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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