Leukodystrophy - paediatric
Gene: TMEM163EnsemblGeneIds (GRCh38): ENSG00000152128
EnsemblGeneIds (GRCh37): ENSG00000152128
TMEM163 is in 4 panels
1 review
Teresa Zhao (Victorian Clinical Genetics Services)
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: LiteratureCreated: 1 Sep 2022, 6:51 a.m. | Last Modified: 1 Sep 2022, 7:01 a.m.
Panel Version: 0.275
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hypomyelinating leukodystrophy
Publications
- PMID: 35953447
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
-
- PMID: 35953447
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tmem163 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tmem163 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TMEM163 were changed from Hypomyelinating leukodystrophy to Hypomyelinating leukodystrophy, MONDO:0019046
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 Leukodystrophy - paediatric. 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