Hereditary ataxia

Gene: TMEM240

Green List (high evidence)

TMEM240 (transmembrane protein 240)
EnsemblGeneIds (GRCh38): ENSG00000205090
EnsemblGeneIds (GRCh37): ENSG00000205090
OMIM: 616101, Gene2Phenotype
TMEM240 is in 7 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: corrected MIM
Created: 9 Jan 2019, 12:03 p.m.

emma baple (Genomics England Curator)

Comment when marking as ready: multiple mutations reported
Created: 11 Jul 2016, 8:10 p.m.

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

Green List (high evidence)

Fine. Good evidence, positive in our cohort. Mode of pathogenicity: loss-of-function.
Created: 24 Nov 2015, 4:57 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Spinocerebellar ataxia 21 (#616101)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 21, 607454
OMIM
616101
Clinvar variants
Variants in TMEM240
Penetrance
Complete
Panels with this gene

History Filter Activity

9 Jan 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: TMEM240 were changed from Spinocerebellar ataxia 21 (#616101) to Spinocerebellar ataxia 21, 607454

11 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Nov 2015, Gel status: 0

Added New Source

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

TMEM240 was added to Hereditary ataxiapanel. Sources: Expert Review

24 Nov 2015, Gel status: 0

Created

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

TMEM240 was created by jonathan.williams