Mitochondrial disorders
Gene: TMEM126B
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
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
Comment on list classification: Sufficient evidence for this gene to now be promoted from Amber to Green.Created: 25 Feb 2019, 4:56 p.m.
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
no mutation reports in literature
Created: 6 Feb 2016, 11:44 p.m.
Publications for gene: TMEM126B were set to 27374774
Gene: tmem126b has been classified as Green List (High Evidence).
Victorian Clinical Genetics Services was added to TMEM126B. Panel: Mitochondrial disorders
Mode of inheritance for TMEM126B was changed to BIALLELIC, autosomal or pseudoautosomal
Publications for TMEM126B were set to 27374774
This gene has been classified as Amber List (Moderate Evidence).
TMEM126B was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list