KIF21A

kinesin family member 21A
OMIM: 608283, ClinGen, DECIPHER

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green KIF21A in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 1.14

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Arthrogryposis multiplex congenita, MONDO:0015168, KIF21A-related

    Green KIF21A in Mendeliome


    Version 1.4216

    2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fibrosis of extraocular muscles, congenital, 1/3B, MIM#135700
    • Arthrogryposis multiplex congenita, MONDO:0015168, KIF21A-related

    Green KIF21A in Multiple pterygium syndrome_Fetal akinesia sequence


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.10

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Arthrogryposis multiplex congenita, MONDO:0015168, KIF21A-related

    Green KIF21A in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.588

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Fibrosis of extraocular muscles, congenital, 1/3B, MIM#135700

    Amber KIF21A in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.638

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Genetic Health Queensland
    Phenotypes
    • Fibrosis of extraocular muscles, congenital, 1/3B, MIM#135700

    Green KIF21A in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.53

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Fibrosis of extraocular muscles, congenital, 1/3B, MIM#135700

    Green KIF21A in Additional findings_Paediatric


    Level 2: Screening
    Version 0.280

    0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Fibrosis of extraocular muscles, congenital

    Green KIF21A in Congenital ophthalmoplegia


    Level 2: Ophthalmological disorders
    Version 1.14

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Fibrosis of extraocular muscles, congenital, 1/3B, MIM# 135700

    Green KIF21A in Fetal anomalies


    Version 1.522

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Arthrogryposis multiplex congenita, MONDO:0015168, KIF21A-related

    Red KIF21A in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.147

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Fibrosis of extraocular muscles, congenital, 1/3B, MIM# 135700