1. Genes and Genomic Entities
  2. CEP295

CEP295

centrosomal protein 295
OMIM: 617728, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green CEP295 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
  • NHS GMS
Phenotypes
  • Seckel syndrome 11, OMIM:620767
Amber CEP295 in Intellectual disability


Level 2: Developmental disorders
Version 9.285
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 Amber
    • Expert Review
    Phenotypes
    • Seckel syndrome 11, OMIM:620767