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Deafness_Isolated

Gene: TBC1D24

Green List (high evidence)
TBC1D24 (TBC1 domain family member 24)
EnsemblGeneIds (GRCh38): ENSG00000162065
EnsemblGeneIds (GRCh37): ENSG00000162065
OMIM: 613577, Gene2Phenotype
TBC1D24 is in 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Variants in this gene are associated with both syndromic and non-syndromic deafness. Note the evidence for mono allelic variants causing deafness is limited, with just two families reported.
Created: 28 Jan 2020, 11:34 p.m. | Last Modified: 28 Jan 2020, 11:34 p.m.
Panel Version: 0.263

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
DOORS syndrome, MIM#220500; Deafness, autosomal dominant 65, MIM#616044; Deafness , autosomal recessive 86, MIM#614617

Publications

Created: 28 Jan 2020, 11:34 p.m.
Last Modified: 28 Jan 2020, 11:34 p.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.263

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal dominant 65, MIM#616044
  • DOORS syndrome, MIM#220500
  • Deafness , autosomal recessive 86, MIM#614617
OMIM
613577
Clinvar variants
Variants in TBC1D24
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tbc1d24 has been classified as Green List (High Evidence).

21 Jul 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TBC1D24 was added gene: TBC1D24 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TBC1D24 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TBC1D24 were set to 24387994; 24729539; 24729547; 24291220 Phenotypes for gene: TBC1D24 were set to Deafness, autosomal dominant 65, MIM#616044; DOORS syndrome, MIM#220500; Deafness , autosomal recessive 86, MIM#614617