Dystonia - complex
Gene: FITM2
FITM2 (fat storage inducing transmembrane protein 2)
EnsemblGeneIds (GRCh38): ENSG00000197296
EnsemblGeneIds (GRCh37): ENSG00000197296
OMIM: 612029, Gene2Phenotype
FITM2 is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000197296
EnsemblGeneIds (GRCh37): ENSG00000197296
OMIM: 612029, Gene2Phenotype
FITM2 is in 6 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
7 cases from 3 unrelated families (2 consanguineous) with a dystonia-deafness syndrome and a supporting Drosophila model.
Sources: Expert listCreated: 19 Jun 2020, 2:40 a.m. | Last Modified: 19 Jun 2020, 2:45 a.m.
Panel Version: 0.66
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Siddiqi syndrome MIM#618635; dystonia; deafness
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Siddiqi syndrome MIM#618635
- dystonia
- deafness
- OMIM
- 612029
- Clinvar variants
- Variants in FITM2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
19 Jun 2020, Gel status: 3
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: fitm2 has been classified as Green List (High Evidence).
19 Jun 2020, Gel status: 3
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: fitm2 has been classified as Green List (High Evidence).
19 Jun 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: FITM2 was added gene: FITM2 was added to Dystonia - complex. Sources: Expert list Mode of inheritance for gene: FITM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FITM2 were set to 28067622; 30214770; 30288795 Phenotypes for gene: FITM2 were set to Siddiqi syndrome MIM#618635; dystonia; deafness Review for gene: FITM2 was set to GREEN