KIF14

kinesin family member 14
OMIM: 611279, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Red KIF14 in Familial Neural Tube Defects


Version 1.6

review Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Meckel Syndrome

Red KIF14 in Ductal plate malformation


Version 1.11

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Meckel syndrome 12 (616258)

Red KIF14 in Autism


Version 0.16

review Not set
Sources
  • Expert Review Red
  • SFARI

No list KIF14 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.47
Signed off v.2.2 on 2 Mar 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Microcephaly 20, primary, autosomal recessive, MIM# 617914

No list KIF14 in Fetal anomalies


Version 1.115
Signed off v.1.92 on 21 Aug 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • ?Meckel syndrome 12
  • Microcephaly 20, primary

Amber KIF14 in DDG2P


Version 2.12
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Expert Review Amber
    • DD-Gene2Phenotype
    Phenotypes
    • Severe microcephaly and short stature

    Green KIF14 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.568
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Literature
    Phenotypes
    • Microcephaly 20, primary, autosomal recessive, 617914

    Red KIF14 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.130

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Other
    • Orphanet
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • intrauterine growth restriction (IUGR)
    • microcephaly
    • renal cystic dysplasia/agenesis
    • complex brain malformation
    • genitourinary malformation
    • ?Meckel syndrome 12, 616258
    • Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
    • ?Meckel syndrome 12

    Red KIF14 in Neurological ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.10
    Signed off v.1.5 on 4 Mar 2020

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • ?Meckel syndrome 12, 616258
    • complex brain malformation
    • ?Meckel syndrome 12
    • intrauterine growth restriction (IUGR)
    • microcephaly
    • Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
    • genitourinary malformation
    • renal cystic dysplasia/agenesis

    Amber KIF14 in Renal ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.31
    Signed off v.1.2 on 4 Mar 2020

    Component of the following Super Panels:

  • Cystic renal disease
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Orphanet
    • Expert list
    • Radboud University Medical Center, Nijmegen
    • Other
    Phenotypes
    • ?Meckel syndrome 12, 616258
    • complex brain malformation
    • ?Meckel syndrome 12
    • intrauterine growth restriction (IUGR)
    • microcephaly
    • Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
    • genitourinary malformation
    • renal cystic dysplasia/agenesis
    Tags
    • watchlist

    Green KIF14 in Severe Paediatric Disorders


    Version 1.20

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Microcephaly 20, primary, autosomal recessive, 617914
    • ?Meckel syndrome 12, 616258