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RDH10

Synonyms
SDR16C4
External resources
Summary
This gene encodes a retinol dehydrogenase, which converts all-trans-retinol to all-trans-retinal, with preference for NADP as a cofactor. Studies in mice suggest that this protein is essential for synthesis of embryonic retinoic acid and is required for limb, craniofacial, and organ development.

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
7
Likely pathogenic
0
VUS
4,184
Likely benign
193
Benign
0

Patient phenotypes

Proportions of phenotypes among 3 patients carrying pathogenic or likely pathogenic variants on RDH10 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
33.3%
Abnormality of the cardiovascular system
33.3%
Abnormality of the genitourinary system
33.3%
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 digestive system
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the eye
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the musculoskeletal system
0%
Abnormality of the nervous 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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