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Hearing loss

Gene: TBC1D24

Green List (high evidence)

TBC1D24 (TBC1 domain family member 24)
EnsemblGeneIds (GRCh38): ENSG00000162065
EnsemblGeneIds (GRCh37): ENSG00000162065
OMIM: 613577, Gene2Phenotype
TBC1D24 is in 5 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed from Red to Green. Appropriate phenotype, sufficient cases, and external review comment all support gene-disease association
Created: 21 Nov 2018, 1:28 p.m.
Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to Green
Created: 21 Nov 2018, 1:26 p.m.
Comment on phenotypes: Added phenotypes that indicate relevance to inclusion on the Hearing loss panel from OMIM. Removed: Myoclonic epilepsy, infantile, familial, 605021;Myoclonicepilepsy,infantile,familial,605021Epilepticencephalopathy,earlyinfantile,16,615338
Created: 21 Nov 2018, 1:24 p.m.

Jun Shen (Harvard Medical School)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
#220500:DOOR syndrome[MicrocephalyNarrow bifrontal diameter; Coarse faciesLong philtrum; Deafness, sensorineural, profoundLow-set ears; Optic atrophyBlindnessHigh myopiaCataracts; Broad nasal bridgeLarge noseBulbous nasal tipAnteverted nares; Thick, everted lower lipDownturned corners of the mouthHigh-arched palate; Congenital heart defects (less common); Cystic renal dysplasia (less common)Renal aplasia (less common); Small or absent distal phalangesTriphalangeal thumbs; Small or absent distal phalanges; Small or absent nails on the hands and feet; Mental retardationHypotoniaSeizuresCerebral atrophyDilated ventriclesDandy-Walker malformation (rare); Peripheral polyneuropathyHyporeflexia; Increased serum and urinary 2-oxoglutarate]; #605021:Myoclonic epilepsy, infantile, familial[Delayed motor and speech development, mild (1 family)Myoclonic seizures, frequent, long-lasting (many hours)Focal seizuresFebrile seizuresGeneralized tonic-clonic seizuresIctal EEG with bisynchronous spike wavesIntellectual disabilities (in 1 family)Ataxia, (1 family)Dysarthria, mild (1 family)Brain MRI shows abnormal cortical thickening in the anteromesial frontal areas (1 family)]; #614617:Deafness , autosomal recessive 86[Deafness, profound, affects all frequencies]; #615338:Epileptic encephalopathy, early infantile, 16[Microcephaly, acquired (in some patients); Loss of eye contactVisual lossOptic atrophy (rare); Hypotonia, severe; Epileptic encephalopathySeizures, tonic, clonic, focalProlonged seizuresStatus epilepticusMigrating clonic jerks (in some patients)MyoclonusPsychomotor regressionPsychomotor retardation, severeHypotoniaDystoniaHemiparesisExtrapyramidal signsHemiparesisMultifocal spikes and progressive slowing of background activity seen on EEGProgressive cerebral atrophy seen on MRIDelayed myelination]; #616044:Deafness, autosomal dominant 65[Hearing loss, progressive, (high frequency loss at first progressing to loss of all frequencies)Absent or abnormal otoacoustic emissions]

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Deafness, autosomal recessive 86, 614617
  • Deafness, autosomal dominant 65, 616044
  • DOORS syndrome, 220500
  • deafness, onychodystrophy, osteodystrophy, and mental retardation
OMIM
613577
Clinvar variants
Variants in TBC1D24
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

21 Nov 2018, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: TBC1D24 were set to 10574461; 10741954; 20727515; 20797691; 21087195; 22211675; 23343562; 23526554; 24291220; 24387994; 24729539; 24729547

21 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

21 Nov 2018, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: TBC1D24 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

21 Nov 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: TBC1D24 were set to

21 Nov 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: TBC1D24 were changed from Deafness , autosomal recessive 86, 614617; Deafness, autosomal dominant 65, 616044; DOORS syndrome, 220500; deafness, onychodystrophy, osteodystrophy, and mental retardation to Deafness, autosomal recessive 86, 614617; Deafness, autosomal dominant 65, 616044; DOORS syndrome, 220500; deafness, onychodystrophy, osteodystrophy, and mental retardation

21 Nov 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: TBC1D24 were changed from Myoclonic epilepsy, infantile, familial, 605021; Myoclonicepilepsy,infantile,familial,605021Epilepticencephalopathy,earlyinfantile,16,615338 to Deafness , autosomal recessive 86, 614617; Deafness, autosomal dominant 65, 616044; DOORS syndrome, 220500; deafness, onychodystrophy, osteodystrophy, and mental retardation

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TBC1D24 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TBC1D24 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Expert