1. Panels
  2. Mitochondrial disease
  3. TMEM126B
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Mitochondrial disease

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, 12:49 a.m. | Last Modified: 7 Apr 2022, 12:49 a.m.
Panel Version: 0.779

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 7 Apr 2022, 12:49 a.m.
Last Modified: 7 Apr 2022, 12:49 a.m.
Panel version: 0.779

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 29, MIM# 618250
OMIM
615533
Clinvar variants
Variants in TMEM126B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

7 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TMEM126B were changed from to Mitochondrial complex I deficiency, nuclear type 29, MIM# 618250

7 Apr 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TMEM126B were set to

7 Apr 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TMEM126B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TMEM126B was added gene: TMEM126B was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: TMEM126B was set to Unknown