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  3. TMEM106B
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Leukodystrophy - paediatric

Gene: TMEM106B

Green List (high evidence)
TMEM106B (transmembrane protein 106B)
EnsemblGeneIds (GRCh38): ENSG00000106460
EnsemblGeneIds (GRCh37): ENSG00000106460
OMIM: 613413, Gene2Phenotype
TMEM106B is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Leukodystrophy, hypomyelinating, 16, MIM #617964

Publications

Mode of pathogenicity
Other

Created: 4 Feb 2020, 7:21 a.m.
Last Modified: 4 Feb 2020, 7:21 a.m.
Panel version: Imported from Leukodystrophy panel version 0.38

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 29186371: 4 unrelated patients with heterozygous de novo c.754G>A p.(Asp252Asn).
PMID: 29444210: Heterozygous and de novo in 1 patient with hypomyelinating leukodystrophy

functional studies:
Disease mechanism is not clearly established. However, patient's fibroblasts harbouring p.(Asp252Asn) (PMID: 30643851) demonstrated opposite effects to what was observed in the knockout mouse model (PMID: 28728022). Therefore, suggestive of gain-of-function.
Created: 4 Feb 2020, 5:04 a.m. | Last Modified: 4 Feb 2020, 5:04 a.m.
Panel Version: 0.49

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Leukodystrophy, hypomyelinating, 16, (MIM #617964)

Publications

Mode of pathogenicity
Other

Created: 4 Feb 2020, 5:04 a.m.
Last Modified: 4 Feb 2020, 5:04 a.m.
Panel version: 0.49

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Australian Genomcis Health Alliance Leukodystrophy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukodystrophy, hypomyelinating 16, MIM#617964
OMIM
613413
Clinvar variants
Variants in TMEM106B
Penetrance
None
Panels with this gene

History Filter Activity

30 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: TMEM106B was added gene: TMEM106B was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: TMEM106B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TMEM106B were set to Leukodystrophy, hypomyelinating 16, MIM#617964