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TMEM126B

Synonyms
HT007, MC1DN29
External resources
Summary
This gene encodes a mitochondrial transmembrane protein which is a component of the mitochondrial complex I assembly complex. The encoded protein serves as an assembly factor that is required for formation of the membrane arm of the complex. It interacts with NADH dehydrogenase

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
49
Likely pathogenic
1
VUS
6,578
Likely benign
382
Benign
0

Patient Phenotypes

Proportions of phenotypes among 40 patients carrying pathogenic or likely pathogenic variants on TMEM126B gene are displayed below. The following symptoms were found in patients with a variant in TMEM126B. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
52.5%
Abnormality of head or neck
42.5%
Abnormality of the eye
42.5%
Abnormality of the nervous system
37.5%
Abnormality of the integument
20%
Abnormality of limbs
17.5%
Abnormality of the ear
17.5%
Growth abnormality
17.5%
Abnormality of the cardiovascular system
12.5%
Abnormality of the genitourinary system
10%
Abnormality of the immune system
10%
Abnormality of the digestive system
7.5%
Abnormality of the endocrine system
7.5%
Abnormality of blood and blood forming tissues
2.5%
Abnormality of metabolism homeostasis
2.5%
Abnormality of prenatal development or birth
2.5%
Abnormality of the breast
2.5%
Abnormality of the respiratory system
2.5%
Neoplasm
2.5%
Abnormal cellular phenotype
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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