CEP63

centrosomal protein 63
OMIM: 614724, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Amber CEP63 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Seckel syndrome 6, MIM#614728

Amber CEP63 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.269

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Seckel syndrome 6, MIM#614728

Amber CEP63 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 0.522

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Seckel syndrome 6, MIM#614728

Amber CEP63 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
  • Genetic Health Queensland
Phenotypes
  • Seckel syndrome 6, MIM#614728

Red CEP63 in Cerebral vascular malformations


Level 2: Neurology and neurodevelopmental disorders
Version 0.39

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Genomics England PanelApp
    • Expert Review Red
    Phenotypes
    • Seckel syndrome 6 614728

    Amber CEP63 in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Seckel syndrome 6, OMIM:614728
    • Seckel syndrome 6, MONDO:0013871