Childhood onset dystonia, chorea or related movement disorder

Gene: FITM2

Green List (high evidence)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Created: 14 Mar 2022, 10:59 a.m. | Last Modified: 14 Mar 2022, 10:59 a.m.

Panel Version: 1.217

The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Created: 3 Mar 2022, 4:45 p.m. | Last Modified: 3 Mar 2022, 4:45 p.m.

Panel Version: 1.212

Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least four variants reported in at least three unrelated cases. Supportive drosophila model.

Created: 4 May 2021, 5:03 p.m. | Last Modified: 4 May 2021, 5:03 p.m.

Panel Version: 1.96

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.

Created: 4 May 2021, 5 p.m. | Last Modified: 4 May 2021, 5 p.m.

Panel Version: 1.96

Green List (high evidence)

7 cases from 3 unrelated families (2 consanguineous) with a dystonia-deafness syndrome and a supporting Drosophila model.
Sources: Expert list

Created: 5 Sep 2020, 7:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Siddiqi syndrome MIM#618635; dystonia; deafness

Publications

• 28067622
• 30214770
• 30288795

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