Possible mitochondrial disorder - nuclear genes
Gene: TMEM126BEnsemblGeneIds (GRCh38): ENSG00000171204
EnsemblGeneIds (GRCh37): ENSG00000171204
OMIM: 615533, Gene2Phenotype
TMEM126B is in 9 panels
5 reviews
Ivone Leong (Genomics England Curator)
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.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 29, 618250
Zornitza Stark (Australian Genomics)
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)
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
- PMID: 27374774
Ellen McDonagh (Genomics England Curator)
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)
no mutation reports in literature
Created: 6 Feb 2016, 11:44 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Mitochondrial complex I deficiency, nuclear type 29, 618250
- OMIM
- 615533
- Clinvar variants
- Variants in TMEM126B
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Mitochondrial disorder with complex I deficiency
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: TMEM126B was added gene: TMEM126B was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TMEM126B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM126B were set to Mitochondrial complex I deficiency, nuclear type 29, 618250