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Inborn errors of metabolism

Gene: TMEM126B

Green List (high evidence)

TMEM126B (transmembrane protein 126B)
EnsemblGeneIds (GRCh38): ENSG00000171204
EnsemblGeneIds (GRCh37): ENSG00000171204
OMIM: 615533, Gene2Phenotype
TMEM126B is in 9 panels

4 reviews

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

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

Shamima Rahman (UCL Institute of Child Health)

I don't know

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

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source, Set Phenotypes, Set publications, Status Update

Sarah Leigh (Genomics England Curator)

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)

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

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