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DYNC1H1

Synonyms
CMT2O, DHC1, DHC1a, DNCH1, DNCL, DNECL, DYHC, Dnchc1, HL-3, SMALED1, p22
External resources
Summary
Dyneins are a group of microtubule-activated ATPases that function as molecular motors. They are divided into two subgroups of axonemal and cytoplasmic dyneins. The cytoplasmic dyneins function in intracellular motility, including retrograde axonal transport, protein sorting, organelle movement, and spindle dynamics. Molecules of conventional cytoplasmic dynein are comprised of 2 heavy chain polypeptides and a number of intermediate and light chains.This gene encodes a member of the cytoplasmic dynein heavy chain family.

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
34
Likely pathogenic
3
VUS
4,695
Likely benign
21,712
Benign
4,567

Patient phenotypes

Proportions of phenotypes among 24 patients carrying pathogenic or likely pathogenic variants on DYNC1H1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
58.3%
Abnormality of the musculoskeletal system
29.2%
Abnormality of head or neck
20.8%
Abnormality of the cardiovascular system
20.8%
Abnormality of the genitourinary system
12.5%
Abnormality of blood and blood-forming tissues
8.3%
Abnormality of the eye
8.3%
Growth abnormality
8.3%
Abnormality of limbs
4.2%
Abnormality of the digestive system
4.2%
Abnormality of the ear
4.2%
Abnormality of the immune system
4.2%
Constitutional symptom
4.2%
Abnormal cellular phenotype
0%
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 integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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