Possible mitochondrial disorder - nuclear genes
Gene: TMEM126A

TMEM126A (transmembrane protein 126A)
EnsemblGeneIds (GRCh38): ENSG00000171202
EnsemblGeneIds (GRCh37): ENSG00000171202
OMIM: 612988, Gene2Phenotype
TMEM126A is in 8 panels

2 reviews

Ivone Leong (Genomics England Curator)

Red List (low evidence)

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
Optic atrophy 7, 612989

Created: 4 Feb 2019, 1:36 p.m.

Panel version: 0.5

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 5 Feb 2016, 8:04 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0.16

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Red

Phenotypes

Optic atrophy 7, 612989

OMIM

612988

Clinvar variants

Variants in TMEM126A

Penetrance

None

Panels with this gene

History Filter Activity

4 Feb 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: TMEM126A was added gene: TMEM126A was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: TMEM126A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM126A were set to Optic atrophy 7, 612989

Possible mitochondrial disorder - nuclear genes Gene: TMEM126A