Home > Gene Browser > SERAC1

SERAC1

Synonyms
-
External resources
Summary
The protein encoded by this gene is a phosphatidylglycerol remodeling protein found at the interface of mitochondria and endoplasmic reticula, where it mediates phospholipid exchange. The encoded protein plays a major role in mitochondrial function and intracellular cholesterol trafficking. Defects in this gene are a cause of 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL). Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
16
Likely pathogenic
0
VUS
3,003
Likely benign
2,171
Benign
0

Patient Phenotypes

Proportions of phenotypes among 16 patients carrying pathogenic or likely pathogenic variants on SERAC1 gene are displayed below. The following symptoms were found in patients with a variant in SERAC1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
75%
Abnormality of head or neck
50%
Abnormality of the nervous system
43.8%
Growth abnormality
31.3%
Abnormality of limbs
25%
Abnormality of the cardiovascular system
18.8%
Abnormality of the ear
18.8%
Abnormality of the eye
18.8%
Abnormality of the digestive system
12.5%
Abnormality of the integument
12.5%
Abnormality of metabolism homeostasis
6.3%
Abnormality of prenatal development or birth
6.3%
Abnormality of the breast
6.3%
Abnormality of the genitourinary system
6.3%
Abnormality of the immune system
6.3%
Abnormality of the respiratory system
6.3%
Constitutional symptom
6.3%
Neoplasm
6.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of the endocrine 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.