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GMCL1

Synonyms
BTBD13, GCL, GCL1, SPATA29
External resources
Summary
This gene encodes a nuclear envelope protein that appears to be involved in spermatogenesis, either directly or by influencing genes that play a more direct role in the process. This multi-exon locus is the homolog of the mouse and drosophila germ cell-less gene but the human genome also contains a single-exon locus on chromosome 5 that contains an open reading frame capable of encoding a highly-related protein.

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
9
Likely pathogenic
0
VUS
2,107
Likely benign
186
Benign
0

Patient Phenotypes

Proportions of phenotypes among 8 patients carrying pathogenic or likely pathogenic variants on GMCL1 gene are displayed below. The following symptoms were found in patients with a variant in GMCL1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
50%
Abnormality of the nervous system
50%
Abnormality of metabolism homeostasis
37.5%
Abnormality of head or neck
25%
Abnormality of blood and blood forming tissues
12.5%
Abnormality of limbs
12.5%
Abnormality of prenatal development or birth
12.5%
Abnormality of the cardiovascular system
12.5%
Abnormality of the ear
12.5%
Abnormality of the immune system
12.5%
Abnormality of the integument
12.5%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the eye
0%
Abnormality of the genitourinary system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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