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GEMIN6

Synonyms
-
External resources
Summary
GEMIN6 is part of a large macromolecular complex, localized to both the cytoplasm and the nucleus, that plays a role in the cytoplasmic assembly of small nuclear ribonucleoproteins (snRNPs). Other members of this complex include SMN (MIM 600354), GEMIN2 (SIP1; MIM 602595), GEMIN3 (DDX20; MIM 606168), GEMIN4 (MIM 606969), and GEMIN5 (MIM 607005).

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
4
Likely pathogenic
0
VUS
2,297
Likely benign
16
Benign
0

Patient phenotypes

Proportions of phenotypes among 4 patients carring pathogenic or likely pathogenic variants on GEMIN6 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
75%
Abnormality of the nervous system
75%
Abnormality of head or neck
50%
Abnormality of limbs
50%
Neoplasm
50%
Abnormality of blood and blood-forming tissues
25%
Abnormality of the ear
25%
Abnormality of the endocrine system
25%
Abnormality of the eye
25%
Abnormality of the immune system
25%
Abnormality of the respiratory system
25%
Growth abnormality
25%
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 genitourinary system
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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