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Deafness_IsolatedAndComplex

Gene: FITM2

Green List (high evidence)

FITM2 (fat storage inducing transmembrane protein 2)
EnsemblGeneIds (GRCh38): ENSG00000197296
EnsemblGeneIds (GRCh37): ENSG00000197296
OMIM: 612029, Gene2Phenotype
FITM2 is in 6 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

7 cases from 3 unrelated families (2 consanguineous) with a dystonia-deafness syndrome and a supporting Drosophila model.
Sources: Literature
Created: 19 Jun 2020, 2:46 a.m.

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
  • Literature
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 Deafness. Sources: Literature 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