TBC1D23

TBC1 domain family member 23
OMIM: 617687, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Amber TBC1D23 in Ataxia and cerebellar anomalies - narrow panel


Version 2.300
Latest signed off version: v2.23 (8 Oct 2020)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Pontocerebellar hypoplasia, type 11, OMIM:617695
    Tags
    • Q2_21_rating

    Green TBC1D23 in Fetal anomalies


    Version 1.880
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Non-degenerative Pontocerebellar Hypoplasia

    Green TBC1D23 in DDG2P


    Version 2.76
    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
    • Non-degenerative Pontocerebellar Hypoplasia

    Green TBC1D23 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1651
    Latest signed off version: v3.2 (13 Feb 2020)

    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
    • Literature
    Phenotypes
    • Pontocerebellar hypoplasia, type 11, 617695
    • Intellectual disability

    Amber TBC1D23 in Hereditary ataxia - adult onset


    Version 2.158
    Latest signed off version: v2.13 (6 Oct 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • Pontocerebellar hypoplasia type 11 OMIM:617695
    • pontocerebellar hypoplasia, type 11 MONDO:0054669

    Red TBC1D23 in Structural eye disease


    Version 1.132
    Latest signed off version: v1.3 (4 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    Phenotypes
    • coloboma, MONDO:0001476
    • strabismus, MONDO:0003432

    Green TBC1D23 in Severe Paediatric Disorders


    Version 1.127

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Pontocerebellar hypoplasia, type 11, 617695