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RBMX

Synonyms
HNRNPG, HNRPG, MRXS11, RBMXP1, RBMXRT, RNMX, hnRNP-G
External resources
Summary
This gene belongs to the RBMY gene family which includes candidate Y chromosome spermatogenesis genes. This gene, an active X chromosome homolog of the Y chromosome RBMY gene, is widely expressed whereas the RBMY gene evolved a male-specific function in spermatogenesis. Pseudogenes of this gene, found on chromosomes 1, 4, 9, 11, and 6, were likely derived by retrotransposition from the original gene. Alternatively spliced transcript variants encoding different isoforms have been identified. A snoRNA gene (SNORD61) is found in one of its introns.

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
357
Likely pathogenic
8,109
VUS
121,439
Likely benign
18,399
Benign
3

Patient phenotypes

Proportions of phenotypes among 8114 patients carrying pathogenic or likely pathogenic variants on RBMX gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
39.2%
Abnormality of the musculoskeletal system
25.6%
Abnormality of the cardiovascular system
22.8%
Abnormality of the eye
21.6%
Abnormality of head or neck
19.7%
Abnormality of the ear
12.9%
Growth abnormality
11.5%
Abnormality of the genitourinary system
11.3%
Abnormality of the integument
10.7%
Abnormality of limbs
9.8%
Abnormality of the digestive system
7.5%
Abnormality of the immune system
6.6%
Abnormality of blood and blood-forming tissues
4.6%
Abnormality of the endocrine system
4.5%
Abnormality of the respiratory system
3.6%
Neoplasm
2.7%
Abnormality of prenatal development or birth
2.3%
Constitutional symptom
1.2%
Abnormal cellular phenotype
0.8%
Abnormality of the breast
0.6%
Abnormality of the voice
0.4%
Abnormality of the thoracic cavity
0%
Abnormality of metabolism homeostasis
0%

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