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  2. Rhabdomyolysis and Metabolic Myopathy
  3. TMEM126B
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Rhabdomyolysis and Metabolic Myopathy

Gene: TMEM126B

Green List (high evidence)
TMEM126B (transmembrane protein 126B)
EnsemblGeneIds (GRCh38): ENSG00000171204
EnsemblGeneIds (GRCh37): ENSG00000171204
OMIM: 615533, Gene2Phenotype
TMEM126B is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 7 unrelated families reported.
Created: 7 Apr 2022, 12:46 a.m. | Last Modified: 7 Apr 2022, 12:46 a.m.
Panel Version: 0.12694

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 29, MIM# 618250

Publications

Created: 7 Apr 2022, 12:46 a.m.
Last Modified: 7 Apr 2022, 12:46 a.m.
Panel version: Imported from Myopathy - adult onset panel version Imported from Mendeliome panel version 0.12694

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • mitochondrial complex 1 deficiency, nuclear type 29 MONDO:0032633
OMIM
615533
Clinvar variants
Variants in TMEM126B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tmem126b has been classified as Green List (High Evidence).

14 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tmem126b has been classified as Green List (High Evidence).

14 Apr 2023, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: TMEM126B was added gene: TMEM126B was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert list Mode of inheritance for gene: TMEM126B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM126B were set to 27374774; 27374773 Phenotypes for gene: TMEM126B were set to mitochondrial complex 1 deficiency, nuclear type 29 MONDO:0032633