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  2. Rare Disease Genes
  3. TMEM126B

TMEM126B gene related symptoms and diseases

All the information presented here about the TMEM126B gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to TMEM126B gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Left ventricular hypertrophy Very Common - Between 80% and 100% cases
Pigmentary retinopathy Very Common - Between 80% and 100% cases
Optic disc pallor Very Common - Between 80% and 100% cases
Congenital diaphragmatic hernia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with TMEM126B gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Cardiomegaly
  • Coarctation of aorta
  • Ventricular hypertrophy
  • Wide anterior fontanel
  • Febrile seizures
  • Leukodystrophy
  • Aspiration
  • Cardiac arrest

And 132 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to TMEM126B gene

Here you will find a list of rare diseases related to the TMEM126B. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ISOLATED COMPLEX I DEFICIENCY

Alternate names

ISOLATED COMPLEX I DEFICIENCY Is also known as isolated nadh-ubiquinone reductase deficiency, nadh:q(1) oxidoreductase deficiency, isolated nadh-coq reductase deficiency, isolated mitochondrial respiratory chain complex i deficiency, isolated nadh-coenzyme q reductase deficiency, nadh-coenzyme q reductase

Description

Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).

Most common symptoms of ISOLATED COMPLEX I DEFICIENCY

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


More info about ISOLATED COMPLEX I DEFICIENCY

SOURCES: ORPHANET MESH OMIM


Potential gene panels for TMEM126B gene

Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection that also includes the following genes: BCS1L MRPL12 MRPL3 SCO1 SCO2 SDHB SDHD SLC25A1 SLC25A3 SLC25A4

More info about this panel
United States.

TMEM126B Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TMEM126B gene.

More info about this panel
United States.

Comprehensive Muscular Dystrophy / Myopathy Panel Panel

Finland.

By Blueprint Genetics Comprehensive Muscular Dystrophy / Myopathy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP TNNT1 TPM2 TPM3 MYOT TTN

More info about this panel
Finland.

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