TUBGCP4

tubulin gamma complex associated protein 4
OMIM: 609610, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green TUBGCP4 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.267
Latest signed off version: v2.2 (2 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335

Amber TUBGCP4 in Fetal anomalies


Version 1.749
Latest signed off version: v1.92 (21 Aug 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AUTOSOMAL-RECESSIVE MICROCEPHALY WITH CHORIORETINOPATHY.
Tags
  • for-review

Amber TUBGCP4 in DDG2P


Version 2.50
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 Amber
    Phenotypes
    • AUTOSOMAL-RECESSIVE MICROCEPHALY WITH CHORIORETINOPATHY.

    Amber TUBGCP4 in Anophthalmia or microphthalmia

    Level 3: Ocular malformations
    Level 2: Ophthalmological disorders
    Version 1.42

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

    Amber TUBGCP4 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1394
    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
    • Expert Review Amber
    Phenotypes
    • Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335
    • mildly delayed development

    Amber TUBGCP4 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.228
    Latest signed off version: v2.195 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • RetNet
    • Expert Review Amber
    Phenotypes
    • Microcephaly and chorioretinopathy, autosomal recessive, 3, OMIM:616335
    Tags
    • for-review

    Green TUBGCP4 in Structural eye disease


    Version 1.88
    Latest signed off version: v1.3 (4 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335

    Green TUBGCP4 in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335