TBC1D24

TBC1 domain family member 24
OMIM: 613577, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green TBC1D24 in Fetal anomalies


Version 1.638
Latest signed off version: v1.637 (30 Jun 2021)

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 2.21
Latest signed off version: v2.2 (13 Feb 2020)

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 Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.159
    Latest signed off version: v2.158 (29 Jun 2021)

    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 Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.312
    Latest signed off version: v2.311 (16 Dec 2021)

    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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1002
    Latest signed off version: v3.1001 (16 Dec 2021)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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

    No list TBC1D24 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.87
    Latest signed off version: v1.86 (16 Dec 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    Phenotypes
    • Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp, MIM# 608105

    Green TBC1D24 in Severe Paediatric Disorders


    Version 1.66

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • DOORS syndrome, 220500
    • Deafness , autosomal recessive 86, 614617
    • Deafness, autosomal dominant 65, 616044
    • Epileptic encephalopathy, early infantile, 16, 615338
    • Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp, 608105
    • Myoclonic epilepsy, infantile, familial, 605021