TUBGCP4

tubulin gamma complex associated protein 4
OMIM: 609610, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Red TUBGCP4 in Tubulinopathies


Level 2: Neurology and neurodevelopmental disorders
Version 1.1

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Brain Malformations Flagship
    Phenotypes
    • Microcephaly and chorioretinopathy, autosomal recessive, 3 (MIM#616335)

    Green TUBGCP4 in Mendeliome


    Version 1.1891

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Microcephaly and chorioretinopathy, autosomal recessive, 3, MIM# 616335

    Green TUBGCP4 in Microcephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.269

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Microcephaly and chorioretinopathy, autosomal recessive, MIM#616335

    Green TUBGCP4 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.522

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Amber TUBGCP4 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335

    Green TUBGCP4 in Syndromic Retinopathy


    Level 2: Ophthalmological disorders
    Version 0.209

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • RetNet
    Phenotypes
    • Microcephaly and chorioretinopathy, autosomal recessive, 3, MIM# 616335

    Green TUBGCP4 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 (3)

    Green TUBGCP4 in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Literature
    • Expert list
    Phenotypes
    • Microcephaly and chorioretinopathy, autosomal recessive, MIM#616335

    Green TUBGCP4 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 (3)