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GOLM1

Synonyms
C9orf155, GOLPH2, GP73, HEL46, PSEC0257, bA379P1.3
External resources
Summary
The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is a type II Golgi transmembrane protein. It processes proteins synthesized in the rough endoplasmic reticulum and assists in the transport of protein cargo through the Golgi apparatus. The expression of this gene has been observed to be upregulated in response to viral infection. Alternatively spliced transcript variants encoding the same protein have been described 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
14
Likely pathogenic
3
VUS
12,202
Likely benign
92
Benign
0

Patient phenotypes

Proportions of phenotypes among 17 patients carring pathogenic or likely pathogenic variants on GOLM1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
41.2%
Abnormality of the musculoskeletal system
41.2%
Abnormality of the nervous system
41.2%
Abnormality of head or neck
23.5%
Abnormality of the ear
23.5%
Abnormality of limbs
11.8%
Abnormality of the genitourinary system
11.8%
Abnormality of the integument
11.8%
Growth abnormality
11.8%
Abnormality of blood and blood-forming tissues
5.9%
Abnormality of prenatal development or birth
5.9%
Abnormality of the digestive system
5.9%
Abnormality of the endocrine system
5.9%
Abnormality of the immune system
5.9%
Abnormality of the respiratory system
5.9%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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