Genetic Epilepsy

Gene: TMEM163

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

• 35455965
• 35953447

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

• PMID: 35953447