Deafness_IsolatedAndComplex
Gene: TBC1D24EnsemblGeneIds (GRCh38): ENSG00000162065
EnsemblGeneIds (GRCh37): ENSG00000162065
OMIM: 613577, Gene2Phenotype
TBC1D24 is in 14 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Melbourne Genomics Health Alliance Deafness Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- DOORS syndrome, MIM#220500
- Deafness, autosomal dominant 65, MIM#616044
- Deafness , autosomal recessive 86, MIM#614617
- OMIM
- 613577
- Clinvar variants
- Variants in TBC1D24
- Penetrance
- None
- Publications
- Panels with this gene
-
- BabyScreen+ newborn screening
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Early-onset Parkinson disease
- Paroxysmal Dyskinesia
- Deafness_IsolatedAndComplex
- Mackenzie's Mission_Reproductive Carrier Screening
- Progressive Myoclonic Epilepsy
- Deafness_Isolated
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tbc1d24 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TBC1D24 were changed from to DOORS syndrome, MIM#220500; Deafness, autosomal dominant 65, MIM#616044; Deafness , autosomal recessive 86, MIM#614617
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: TBC1D24 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: TBC1D24 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TBC1D24 was added gene: TBC1D24 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: TBC1D24 was set to Unknown