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


Version 1.16
Latest signed off version: v1.2 (3 Mar 2020)

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 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.22
Latest signed off version: v5.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • arthrogryposis, MONDO:0008779
  • fetal akinesia
Green KIF21A in Fetal anomalies


Version 3.135
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Arthrogryposis
  • fetal akinesia
Red KIF21A in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.453
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review Not set
    Sources
    • Victorian Clinical Genetics Services
    Green KIF21A in Severe Paediatric Disorders


    Version 1.182

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Fibrosis of extraocular muscles, congenital, 1, 135700
    • Fibrosis of extraocular muscles, congenital, 3B, 135700