Home > Gene Browser > CEP104

CEP104

Synonyms
CFAP256, GlyBP, JBTS25, KIAA0562, ROC22
External resources
Summary
This gene encodes a centrosomal protein required for ciliogenesis and for ciliary tip structural integrity. The mammalian protein contains three amino-terminal hydrophobic domains, two glycosylation sites, four cysteine-rich motifs, and two regions with homology to the glutamate receptor ionotropic, NMDA 1 protein. During ciliogenesis, the encoded protein translocates from the distal tips of the centrioles to the tip of the elongating cilium. Knockdown of the protein in human retinal pigment cells results in severe defects in ciliogenesis with structural deformities at the ciliary tips. Allelic variants of this gene are associated with the autosomal-recessive disorder Joubert syndrome, which is characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia.

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
236
Likely pathogenic
19
VUS
9,963
Likely benign
16,697
Benign
68

Patient phenotypes

Proportions of phenotypes among 248 patients carrying pathogenic or likely pathogenic variants on CEP104 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
39.9%
Abnormality of the musculoskeletal system
31.5%
Abnormality of the eye
24.6%
Abnormality of head or neck
22.6%
Abnormality of the cardiovascular system
15.3%
Abnormality of the genitourinary system
14.5%
Growth abnormality
13.3%
Abnormality of the ear
12.5%
Abnormality of the digestive system
12.1%
Abnormality of limbs
10.9%
Abnormality of the integument
10.5%
Abnormality of the endocrine system
7.3%
Abnormality of the immune system
5.2%
Abnormality of the respiratory system
4%
Neoplasm
4%
Abnormality of blood and blood-forming tissues
2.4%
Abnormality of prenatal development or birth
2.4%
Abnormality of the breast
0.4%
Abnormality of the voice
0.4%
Constitutional symptom
0.4%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes