Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Genetic Epilepsy

Gene: TMEM163

Green List (high evidence)

TMEM163 (transmembrane protein 163)
EnsemblGeneIds (GRCh38): ENSG00000152128
EnsemblGeneIds (GRCh37): ENSG00000152128
TMEM163 is in 4 panels

2 reviews

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 35953447
Four unrelated families with a hypomyelinating leukodystrophy phenotype. Three our of five have seizures.


PMID: 35455965
Two unrelated Hypomyelination Leukodystrophy (HLD) patients with de novo heterozygous variants, c.227T>G p.(L76R) or c.227T>C p.(L76P) in TMEM163 were identified. However, NO seizures were noted.
Created: 14 Dec 2023, 5:30 a.m. | Last Modified: 14 Dec 2023, 5:30 a.m.
Panel Version: 0.2028

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Leukodystrophy, hypomyelinating, 25 MIM#620243

Publications

Teresa Zhao (Victorian Clinical Genetics Services)

Green List (high evidence)

Four unrelated families with a hypomyelinating leukodystrophy phenotype. Genomic testing identified three distinct heterozygous missense variants in TMEM163 with two unrelated individuals sharing the same de novo variant.

All have global developmental delay, three of them have seizures.
Sources: Literature
Created: 1 Sep 2022, 7:06 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Hypomyelinating leukodystrophy

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Hypomyelinating leukodystrophy, MONDO:0019046
Clinvar variants
Variants in TMEM163
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Dec 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TMEM163 were set to PMID: 35953447

1 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmem163 has been classified as Green List (High Evidence).

1 Sep 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TMEM163 were changed from Hypomyelinating leukodystrophy, MONDO:0019046 to Hypomyelinating leukodystrophy, MONDO:0019046

1 Sep 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TMEM163 were changed from Hypomyelinating leukodystrophy to Hypomyelinating leukodystrophy, MONDO:0019046

1 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmem163 has been classified as Green List (High Evidence).

1 Sep 2022, Gel status: 0

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

Teresa Zhao (Victorian Clinical Genetics Services)

gene: TMEM163 was added gene: TMEM163 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: TMEM163 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TMEM163 were set to PMID: 35953447 Phenotypes for gene: TMEM163 were set to Hypomyelinating leukodystrophy Review for gene: TMEM163 was set to GREEN