Severe microcephaly

Gene: KIF11

Green List (high evidence)

KIF11 (kinesin family member 11)
EnsemblGeneIds (GRCh38): ENSG00000138160
EnsemblGeneIds (GRCh37): ENSG00000138160
OMIM: 148760, Gene2Phenotype
KIF11 is in 7 panels

2 reviews

Alice Gardham (Genomics England)

Comment on list classification: Expert review.
11 Jan 2017, 4:28 p.m.

Rebecca Foulger (Genomics England curator)

Andrew Jackson (Professor of Human Genetics) agrees that it would be useful to include KIF11 on this panel.
3 Jan 2017, 10:17 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • 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
OMIM
148760
Clinvar variants
Variants in KIF11
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 Mar 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.

27 Feb 2017, Gel status: 4

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for KIF11 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

11 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

11 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

3 Jan 2017, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

KIF11 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: UKGTN

3 Jan 2017, Gel status: 1

Set Mode of Inheritance, Added New Source

Rebecca Foulger (Genomics England curator)

KIF11 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Other Model of inheritance for gene KIF11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

3 Jan 2017, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

KIF11 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Radboud University Medical Center, Nijmegen

3 Jan 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

KIF11 was created by rfoulger