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RDH12

Synonyms
LCA13, RP53, SDR7C2
External resources
Summary
The protein encoded by this gene is an NADPH-dependent retinal reductase whose highest activity is toward 9-cis and all-trans-retinol. The encoded enzyme also plays a role in the metabolism of short-chain aldehydes but does not exhibit steroid dehydrogenase activity. Defects in this gene are a cause of Leber congenital amaurosis type 13 and Retinitis Pigmentosa 53.

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
8
Likely pathogenic
22
VUS
9,106
Likely benign
2,382
Benign
1

Patient phenotypes

Proportions of phenotypes among 28 patients carrying pathogenic or likely pathogenic variants on RDH12 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
50%
Abnormality of the nervous system
28.6%
Abnormality of head or neck
10.7%
Abnormality of the cardiovascular system
10.7%
Abnormality of the immune system
10.7%
Abnormality of the musculoskeletal system
10.7%
Abnormality of blood and blood-forming tissues
7.1%
Abnormality of the genitourinary system
7.1%
Abnormality of the respiratory system
7.1%
Growth abnormality
7.1%
Abnormal cellular phenotype
3.6%
Abnormality of prenatal development or birth
3.6%
Abnormality of the integument
3.6%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
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 thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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