Monogenic hearing loss
Gene: TBC1D24Comment on list classification: Changed from Red to Green. Appropriate phenotype, sufficient cases, and external review comment all support gene-disease associationCreated: 21 Nov 2018, 1:28 p.m.
Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to GreenCreated: 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,16,615338Created: 21 Nov 2018, 1:24 p.m.
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
Publications for gene: TBC1D24 were set to 10574461; 10741954; 20727515; 20797691; 21087195; 22211675; 23343562; 23526554; 24291220; 24387994; 24729539; 24729547
Gene: tbc1d24 has been classified as Green List (High Evidence).
Mode of inheritance for gene: TBC1D24 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TBC1D24 were set to
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
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
TBC1D24 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Expert
TBC1D24 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Expert