Primary lymphoedema

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

3 reviews

Ellen McDonagh (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.
Created: 20 Feb 2019, 2:17 p.m.

Pia Ostergaard (St George's)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Microcephaly-Chorioretinopathy-Lymphoedema-Mental retardation

Publications

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. Numerous variants reported.
Created: 2 Nov 2016, 10:54 a.m.

Details

Mode of Inheritance
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
OMIM
148760
Clinvar variants
Variants in KIF11
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

19 Jun 2019, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: KIF11 were changed from Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, 152950 to Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, MCLMR 152950

20 Feb 2019, Gel status: 3

Added New Source, Status Update

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to KIF11. Rating Changed from Green List (high evidence) to Green List (high evidence)

2 Nov 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

A combined panel for lymphatic disorders - Meiges disease - Milroy disease - Lymphoedema distichiasis Promoted to V1 02/11/2016

2 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

30 Sep 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

KIF11 was added to Lymphatic Disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green

30 Sep 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

KIF11 was created by sleigh