Likely inborn error of metabolism - targeted testing not possible
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.
Source Expert Review Green was added to TMEM126B. Added phenotypes Isolated complex I deficiency for gene: TMEM126B Publications for gene TMEM126B were changed from 27374774 to 27374773; 27374774 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Sarah Leigh: Associated with phenotype in O
gene: TMEM126B was added gene: TMEM126B was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: TMEM126B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM126B were set to 27374774 Phenotypes for gene: TMEM126B were set to Isolated complex I deficiency