CEP63

centrosomal protein 63
OMIM: 614724, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red CEP63 in Cerebral vascular malformations

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.48

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Seckel syndrome 6 614728

Green CEP63 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
  • Other
  • Expert list
Phenotypes
  • MCPH
  • primary microcephaly
  • ?Seckel syndrome 6, 614728
  • Microcephaly

Amber CEP63 in Fetal anomalies


Version 0.348

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SECKEL SYNDROME 6

Amber CEP63 in DDG2P


Version 1.148

Component of the following Super Panels:

  • Paediatric disorders v4.401
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • SECKEL SYNDROME 6 614728

    Amber CEP63 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.1102

    Component of the following Super Panels:

  • Paediatric disorders v4.401
  • White matter disorders - childhood onset v4.233
  • Hypotonic infant with a likely central cause v3.1053
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert Review Red
    Phenotypes
    • ?Seckel syndrome 6 614728
    • Developmental dyslexia