KIF21A

kinesin family member 21A
OMIM: 608283, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green KIF21A in Congenital fibrosis of the extraocular muscles


Level 2: Ophthalmology
Version 2.3
Latest signed off version: v2.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
  • Literature
Phenotypes
  • Fibrosis of extraocular muscles, congenital, 1, OMIM:135700
  • Fibrosis of extraocular muscles, congenital, 3B, OMIM:135700
Green KIF21A in Arthrogryposis


Level 2: Neurology
Version 9.24
Latest signed off version: v9.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • arthrogryposis, MONDO:0008779
  • fetal akinesia
Green KIF21A 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
  • Literature
Phenotypes
  • Arthrogryposis
  • fetal akinesia
Red KIF21A 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 Not set
    Sources
    • Victorian Clinical Genetics Services
    Amber KIF21A in Hereditary neuropathy or pain disorder


    Level 2: Neurology
    Version 7.36
    Latest signed off version: v7.0 (30 Apr 2025)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • CFEOM
    • agenesis of the corpus callosum
    • peripheral neuropathy, MONDO:0005244
    Tags
    • Q4_25_promote_green
    • Q4_25_NHS_review