Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: TMEM106B

No list

TMEM106B (transmembrane protein 106B)
EnsemblGeneIds (GRCh38): ENSG00000106460
EnsemblGeneIds (GRCh37): ENSG00000106460
OMIM: 613413, Gene2Phenotype
TMEM106B is in 6 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Cerebellar signs including ataxia prominent.
Sources: Expert list
Created: 13 Sep 2020, 7:26 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Leukodystrophy, hypomyelinating, 16, MIM# 617964

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Leukodystrophy, hypomyelinating, 16, MIM# 617964
OMIM
613413
Clinvar variants
Variants in TMEM106B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: TMEM106B was added gene: TMEM106B was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: TMEM106B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TMEM106B were set to 29186371; 29444210 Phenotypes for gene: TMEM106B were set to Leukodystrophy, hypomyelinating, 16, MIM# 617964 Review for gene: TMEM106B was set to GREEN gene: TMEM106B was marked as current diagnostic