CEP63:Ensemblv90

centrosomal protein 63
OMIM: 614724, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Amber CEP63 in Mendeliome


Version 1.3802

1 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 1.376

1 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 0.578

1 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 1.508

1 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 1.9

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • Vascular Malformations SuperPanel
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Seckel syndrome 6 614728

    Amber CEP63 in Fetal anomalies


    Version 1.482

    1 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

    Red CEP63 in Cerebral vascular malformations


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    • Expert Review Amber
    • Genomics England PanelApp
    • Expert Review Red
    Phenotypes
    • Seckel syndrome 6 614728