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Prepair 500+

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

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Continuum of distinct phenotypes, ranging from isolated deafness to to early-onset epileptic encephalopathy with severe developmental delay and early death.
GeneReviews: Intra- and inter-familial variability has been reported. Same variant can present with different phenotype across different families. Null alleles/LoF variants typically associated with a more severe presentation.
Created: 6 Jan 2025, 4:01 a.m. | Last Modified: 6 Jan 2025, 4:01 a.m.
Panel Version: 1.992

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 86 MIM#614617; Developmental and epileptic encephalopathy 16 MIM#615338; DOORS syndrome MIM#220500; Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp MIM#608105; Myoclonic epilepsy, infantile, familial MIM#605021

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Developmental and epileptic encephalopathy 16 MIM#615338
  • DOORS syndrome MIM#220500
  • Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp MIM#608105
  • Myoclonic epilepsy, infantile, familial MIM#605021
OMIM
613577
Clinvar variants
Variants in TBC1D24
Penetrance
None
Panels with this gene

History Filter Activity

29 May 2025, 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).

29 May 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TBC1D24 were changed from Epileptic encephalopathy, early infantile, 16, 615338 (3) to Developmental and epileptic encephalopathy 16 MIM#615338; DOORS syndrome MIM#220500; Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp MIM#608105; Myoclonic epilepsy, infantile, familial MIM#605021

3 Nov 2023, Gel status: 3

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

Seb Lunke (Victorian Clinical Genetics Services)

gene: TBC1D24 was added gene: TBC1D24 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TBC1D24 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TBC1D24 were set to Epileptic encephalopathy, early infantile, 16, 615338 (3)