1. Genes and Genomic Entities
  2. TUBGCP2

TUBGCP2

tubulin gamma complex associated protein 2
Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green TUBGCP2 in Malformations of cortical development


Level 2: Neurology
Version 7.30
Latest signed off version: v7.0 (30 Oct 2024)

Component of the following Super Panels:

  • Cerebral malformation

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM:618737
    Tags
    • gene-checked
    Green TUBGCP2 in Severe microcephaly


    Level 2: Neurology
    Version 8.31
    Latest signed off version: v8.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM:618737
    Tags
    • gene-checked
    Amber TUBGCP2 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Amber
    Phenotypes
    • Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM:618737
    Tags
    • gene-checked
    Green TUBGCP2 in DDG2P


    Version 6.424
    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
    • Microcephaly and Lissencephaly Spectrum Disorders
    Tags
    • gene-checked
    Green TUBGCP2 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.125
    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
    • Expert Review Green
    • Literature
    Phenotypes
    • Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM:618737
    Tags
    • gene-checked
    Amber TUBGCP2 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    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
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM:618737
    Tags
    • Q1_25_ promote_green
    • gene-checked