TUBGCP6

tubulin gamma complex associated protein 6
OMIM: 610053, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green TUBGCP6 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.74

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Other
  • Expert list
Phenotypes
  • MCPH
  • primary microcephaly
  • Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270
  • MCCRP1
  • Microcephaly and chorioretinopathy with or without mental retardation, 251270

Green TUBGCP6 in Fetal anomalies


Version 0.346

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION

Green TUBGCP6 in DDG2P


Version 1.148

Component of the following Super Panels:

  • Paediatric disorders v4.376
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION 251270

    Green TUBGCP6 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.1098

    Component of the following Super Panels:

  • Paediatric disorders v4.376
  • White matter disorders - childhood onset v4.208
  • Hypotonic infant with a likely central cause v3.1028
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION