1. Genes and Genomic Entities
  2. CEP85L

CEP85L

centrosomal protein 85 like
Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green CEP85L in Malformations of cortical development


Level 2: Neurology
Version 7.30
Latest signed off version: v7.0 (30 Oct 2024)

Component of the following Super Panels:

  • Cerebral malformation

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Lissencephaly 10, OMIM:618873
    • Lissencephaly 10, MONDO:0030031
    Tags
    • gene-checked
    Green CEP85L in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Lissencephaly 10, posterior predominant, OMIM:618873
    Tags
    • gene-checked
    Green CEP85L in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CEP85L-associated posterior-predominant lissencephaly, OMIM:618873
    Tags
    • gene-checked
    Green CEP85L in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.120
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Lissencephaly 10, OMIM:618873
    • Lissencephaly 10, MONDO:0030031
    Tags
    • gene-checked
    Green CEP85L 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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Lissencephaly 10, OMIM:618873
    • Lissencephaly 10, MONDO:0030031
    Tags
    • gene-checked