KIF11

kinesin family member 11
OMIM: 148760, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green KIF11 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.74

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • UKGTN
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, 152950
  • Autosomal-dominant microcephaly associated with lymphedema and/or chorioretinopathy, 152950

Green KIF11 in Fetal anomalies


Version 0.346

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AUTOSOMAL-DOMINANT MICROCEPHALY ASSOCIATED WITH LYMPHEDEMA AND/OR CHORIORETINOPATHY

Green KIF11 in DDG2P


Version 1.148

Component of the following Super Panels:

  • Paediatric disorders v4.354
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • AUTOSOMAL-DOMINANT MICROCEPHALY ASSOCIATED WITH LYMPHEDEMA AND/OR CHORIORETINOPATHY 152950

    Green KIF11 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.1098

    Component of the following Super Panels:

  • Paediatric disorders v4.354
  • White matter disorders - childhood onset v4.202
  • Hypotonic infant with a likely central cause v3.1022
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, 152950
    • AUTOSOMAL-DOMINANT MICROCEPHALY ASSOCIATED WITH LYMPHEDEMA AND/OR CHORIORETINOPATHY

    Green KIF11 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 1.203

    Component of the following Super Panels:

  • Super panel Test v2.4
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Genetic Retinal Degeneration Conditions

    Amber KIF11 in Structural eye disease


    Version 0.95

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Amber
    • London North GLH
    Phenotypes
    • Chorioretinopathy, Lymphedema or Mental Retardation, MCLMR, 152950

    Green KIF11 in Primary lymphoedema

    Level 3: Lymphatic Disorders
    Level 2: Cardiovascular disorders
    Version 2.0

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • London South GLH
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, MCLMR 152950