CKAP2L

cytoskeleton associated protein 2 like
OMIM: 616174, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green CKAP2L in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Filippi syndrome, MIM# 272440

Green CKAP2L in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.301

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Filippi syndrome (MIM#272440)

Green CKAP2L in Polydactyly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.281

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green CKAP2L in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Filippi syndrome, MIM# 272440

    Red CKAP2L in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.305

    review Not set
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Syndactyly with microcephaly and MR (Filippi syndrome) 272440

    Green CKAP2L in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Filippi syndrome, 272440 (3)

    Red CKAP2L in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.260

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Filippi syndrome, 272440

    Green CKAP2L in Fetal anomalies


    Version 1.314

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Literature
    Phenotypes
    • Filippi syndrome, MIM# 272440

    Green CKAP2L in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Filippi syndrome, MIM#272440

    Green CKAP2L in Prepair 500+


    Level 2: Screening
    Version 1.5

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Filippi syndrome, 272440 (3)