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  3. TMEM240
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Ataxia - adult onset

Gene: TMEM240

Green List (high evidence)
TMEM240 (transmembrane protein 240)
EnsemblGeneIds (GRCh38): ENSG00000205090
EnsemblGeneIds (GRCh37): ENSG00000205090
OMIM: 616101, Gene2Phenotype
TMEM240 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 8 unrelated families reported. Onset in the first decades of life, including in childhood, of slowly progressive cerebellar ataxia, which is associated with cognitive impairment in most patients
Sources: Expert list
Created: 16 Apr 2020, 7:33 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 21, MIM# 607454

Publications

Created: 16 Apr 2020, 7:33 a.m.

Panel version: Imported from Mendeliome panel version Imported from Ataxia - paediatric panel version 0.66

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia 21, 607454
OMIM
616101
Clinvar variants
Variants in TMEM240
Penetrance
None
Panels with this gene

History Filter Activity

19 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: TMEM240 was added gene: TMEM240 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: TMEM240 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TMEM240 were set to Spinocerebellar ataxia 21, 607454