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Prepair 1000+

Gene: TMEM126A

Green List (high evidence)

TMEM126A (transmembrane protein 126A)
EnsemblGeneIds (GRCh38): ENSG00000171202
EnsemblGeneIds (GRCh37): ENSG00000171202
OMIM: 612988, Gene2Phenotype
TMEM126A is in 6 panels

1 review

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

Patients generally present bilateral deficiency in visual acuity with onset from infancy to 6 y of age, optic nerve pallor, and central scotoma (PMID: 33879611).

p.(Arg55X*) is a recurrent variant (PMID: 30961538).

According to OMIM, there is variable age of onset and variable severity.
Created: 20 Jan 2025, 11:03 p.m. | Last Modified: 20 Jan 2025, 11:03 p.m.
Panel Version: 1.1257

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Optic atrophy 7 MIM#612989

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Optic atrophy 7 MIM#612989
OMIM
612988
Clinvar variants
Variants in TMEM126A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmem126a has been classified as Green List (High Evidence).

24 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TMEM126A were changed from Optic atrophy 7, 612989 (3) to Optic atrophy 7 MIM#612989

24 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TMEM126A were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TMEM126A was added gene: TMEM126A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TMEM126A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM126A were set to Optic atrophy 7, 612989 (3)