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  2. Ataxia - paediatric
  3. TMEM106B
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Ataxia - 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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Cerebellar signs including ataxia prominent.
Created: 16 Apr 2020, 8:32 a.m. | Last Modified: 16 Apr 2020, 8:32 a.m.
Panel Version: 0.74

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Leukodystrophy, hypomyelinating, 16, MIM# 617964

Publications

Created: 16 Apr 2020, 8:32 a.m.
Last Modified: 16 Apr 2020, 8:32 a.m.
Panel version: 0.75

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Hypomyelinating leukodystrophy 16, 617964
OMIM
613413
Clinvar variants
Variants in TMEM106B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmem106b has been classified as Green List (High Evidence).

16 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TMEM106B were set to

19 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 Ataxia - 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 Hypomyelinating leukodystrophy 16, 617964