Home > Gene Browser > EFHC1

EFHC1

Synonyms
EJM1, POC9, RIB72, dJ304B14.2
External resources
Summary
This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described.

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
22
Likely pathogenic
6
VUS
850
Likely benign
1,413
Benign
2,233

Patient phenotypes

Proportions of phenotypes among 26 patients carrying pathogenic or likely pathogenic variants on EFHC1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
23.1%
Abnormality of the eye
19.2%
Abnormality of the musculoskeletal system
19.2%
Abnormality of the genitourinary system
15.4%
Abnormality of blood and blood-forming tissues
11.5%
Abnormality of the cardiovascular system
11.5%
Abnormality of the integument
11.5%
Abnormality of head or neck
7.7%
Neoplasm
7.7%
Abnormality of limbs
3.8%
Abnormality of the ear
3.8%
Abnormality of the immune system
3.8%
Constitutional symptom
3.8%
Growth abnormality
3.8%
Abnormal cellular phenotype
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 endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

Have a question or need assistance? Ask here.

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