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SHQ1

Synonyms
GRIM-1, Shq1p
External resources
Summary
SHQ1 assists in the assembly of H/ACA-box ribonucleoproteins that function in the processing of ribosomal RNAs, modification of spliceosomal small nuclear RNAs, and stabilization of telomerase (see MIM 602322) (Grozdanov et al., 2009

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
24
Likely pathogenic
0
VUS
1,134
Likely benign
592
Benign
20

Patient Phenotypes

Proportions of phenotypes among 23 patients carrying pathogenic or likely pathogenic variants on SHQ1 gene are displayed below. The following symptoms were found in patients with a variant in SHQ1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
43.5%
Abnormality of the eye
30.4%
Abnormality of head or neck
21.7%
Abnormality of the musculoskeletal system
21.7%
Abnormality of the ear
17.4%
Abnormality of the immune system
17.4%
Abnormality of limbs
13%
Abnormality of the cardiovascular system
13%
Abnormality of the integument
13%
Growth abnormality
13%
Abnormality of blood and blood forming tissues
8.7%
Abnormality of the digestive system
8.7%
Abnormality of the genitourinary system
8.7%
Abnormality of the respiratory system
8.7%
Abnormality of metabolism homeostasis
4.3%
Abnormality of prenatal development or birth
4.3%
Abnormality of the endocrine system
4.3%
Neoplasm
4.3%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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