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CHRD

Synonyms
-
External resources
Summary
This gene encodes a secreted protein that dorsalizes early vertebrate embryonic tissues by binding to ventralizing TGF-beta-like bone morphogenetic proteins and sequestering them in latent complexes. The encoded protein may also have roles in organogenesis and during adulthood. It has been suggested that this gene could be a candidate gene for Cornelia de Lange syndrome. Reduced expression of this gene results in enhanced bone regeneration. Alternative splicing results in multiple transcript variants. Other alternative splice variants have been described but their full length sequence has not been determined.

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
8
Likely pathogenic
0
VUS
3,327
Likely benign
434
Benign
0

Patient phenotypes

Proportions of phenotypes among 8 patients carring pathogenic or likely pathogenic variants on CHRD gene are displayed below.

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

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