Genes in panel
STRs in panel
Prev Next

Cardiomyopathies - including childhood onset

Gene: TMEM126B

Green List (high evidence)

TMEM126B (transmembrane protein 126B)
EnsemblGeneIds (GRCh38): ENSG00000171204
EnsemblGeneIds (GRCh37): ENSG00000171204
OMIM: 615533, Gene2Phenotype
TMEM126B is in 10 panels

5 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: TMEM126B; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.
Created: 1 Feb 2019, 4:29 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 29, 618250

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Sufficient number of different mutations reported between the two papers to merit Green.
Created: 1 Sep 2018, 4:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, MIM#252010

Publications

Variants in this GENE are reported as part of current diagnostic practice

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Sufficient evidence for green based on PMID: 27374774.
Created: 16 Aug 2016, 2:18 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Complex I Deficiency

Publications

Ellen McDonagh (Genomics England Curator)

I don't know

A recent publication is out (PMID: 27374774) that reports TMEM126B variants in 6 cases from 4 unrelated families: "Here, we describe the clinical, biochemical, and molecular findings in six cases of mitochondrial disease from four unrelated families affected by biallelic (c.635G>T, p.Gly212Val and/or c.401delA, p.Asn134Ilefs.2) TMEM126B variants. We provide functional evidence to support the pathogenicity of these TMEM126B variants, including evidence of founder effects for both variants, and establish defects within this gene as a cause of complex I deficiency in association with either pure myopathy in adulthood or, in one individual, a severe multisystem presentation (chronic renal failure and cardiomyopathy) in infancy." Only two variants were identified in the 4 families, and haplotype analysis supported evidence of common ancestors, and the variants as founder mutations.
Created: 16 Aug 2016, 12:28 p.m.

Publications

Shamima Rahman (UCL Institute of Child Health)

I don't know

no mutation reports in literature
Created: 6 Feb 2016, 11:44 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • MetBioNet
  • Expert Review Green
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 29, 618250
OMIM
615533
Clinvar variants
Variants in TMEM126B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Sep 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: TMEM126B was added gene: TMEM126B was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet Mode of inheritance for gene: TMEM126B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM126B were set to 27374773; 27374774 Phenotypes for gene: TMEM126B were set to Mitochondrial complex I deficiency, nuclear type 29, 618250