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PCARE

Synonyms
C2orf71, RP54
External resources
Summary
The protein encoded by this gene is highly expressed in photoreceptors and may associate with the primary cilium of the outer segment. The encoded protein appears to undergo post-translational lipid modification. Nonsense and missense variants of this gene appear to cause a recessive form of retinitis pigmentosa.

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
19
Likely pathogenic
0
VUS
1,459
Likely benign
1,597
Benign
518

Patient phenotypes

Proportions of phenotypes among 19 patients carrying pathogenic or likely pathogenic variants on PCARE gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
26.3%
Abnormality of the musculoskeletal system
26.3%
Abnormality of the nervous system
26.3%
Abnormality of limbs
15.8%
Abnormality of head or neck
10.5%
Abnormality of the ear
10.5%
Abnormality of the genitourinary system
10.5%
Abnormality of prenatal development or birth
5.3%
Abnormality of the cardiovascular system
5.3%
Abnormality of the digestive system
5.3%
Abnormality of the endocrine system
5.3%
Abnormality of the immune system
5.3%
Abnormality of the integument
5.3%
Abnormality of the respiratory system
5.3%
Constitutional symptom
5.3%
Growth abnormality
5.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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