1. Genes and Genomic Entities
  2. TUBGCP4

TUBGCP4

tubulin gamma complex associated protein 4
OMIM: 609610, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green TUBGCP4 in Severe microcephaly


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

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
Green TUBGCP4 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
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AUTOSOMAL-RECESSIVE MICROCEPHALY WITH CHORIORETINOPATHY.
Green TUBGCP4 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
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • AUTOSOMAL-RECESSIVE MICROCEPHALY WITH CHORIORETINOPATHY.
    Amber TUBGCP4 in Anophthalmia or microphthalmia

    Level 3: Ocular malformations
    Level 2: Ophthalmological disorders
    Version 1.56

    		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 2: Developmental disorders
    Version 9.280
    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
    Phenotypes
    • Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335
    • mildly delayed development
    Green TUBGCP4 in Retinal disorders


    Level 2: Ophthalmology
    Version 8.86
    Latest signed off version: v8.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • RetNet
    Phenotypes
    • Microcephaly and chorioretinopathy, autosomal recessive, 3, OMIM:616335
    Green TUBGCP4 in Structural eye disease


    Level 2: Ophthalmology
    Version 4.37
    Latest signed off version: v4.0 (7 Aug 2024)

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