1. Genes and Genomic Entities
  2. CEP135

CEP135

centrosomal protein 135
OMIM: 611423, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green CEP135 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
  • UKGTN
  • Other
  • Literature
  • Expert list
Phenotypes
  • MCPH
  • primary microcephaly
  • Autosomal recessive primary microcephaly (MCPH)
  • ?Microcephaly 8, primary, autosomal recessive, 614673
  • Primary Microcephaly and Disturbed Centrosomal Function, 614673
Green CEP135 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
  • Microcephaly 8, primary, autosomal recessive, OMIM:614673
  • Microcephaly 8, primary, autosomal recessive, MONDO:0013849
Green CEP135 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
    • PRIMARY MICROCEPHALY AND DISTURBED CENTROSOMAL FUNCTION 614673
    Green CEP135 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    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 Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Microcephaly 8, primary, autosomal recessive, 614673
    • PRIMARY MICROCEPHALY AND DISTURBED CENTROSOMAL FUNCTION