1. Genes and Genomic Entities
  2. TBC1D24

TBC1D24

TBC1 domain family member 24
OMIM: 613577, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green TBC1D24 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.157
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL
  • DOORS SYNDROME
  • NON SYNDROMAL HEARING LOSS
Green TBC1D24 in DDG2P


Version 6.426
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • DOORS SYNDROME 220500
    • MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL 605021
    • NON SYNDROMAL HEARING LOSS 614617
    Green TBC1D24 in Monogenic hearing loss


    Level 2: Audiology
    Version 5.57
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review 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
    Green TBC1D24 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.147
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • NIHRBR-RD Consortium SPEED_v3.0_20170404
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert
    Phenotypes
    • DOORS syndrome 220500
    • Epileptic encephalopathy, early infantile, 16 615338
    • Myoclonic epilepsy, infantile, familial 605021
    Green TBC1D24 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.304
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Myoclonic epilepsy, infantile, familial, 605021Epileptic encephalopathy, early infantile, 16, 615338
    • NON SYNDROMAL HEARING LOSS
    Green TBC1D24 in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.17
    Latest signed off version: v7.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp, OMIM:608105
    • Developmental and epileptic encephalopathy 16, OMIM:615338