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Structural eye disease

Gene: KIF11

Amber List (moderate evidence)

KIF11 (kinesin family member 11)
EnsemblGeneIds (GRCh38): ENSG00000138160
EnsemblGeneIds (GRCh37): ENSG00000138160
OMIM: 148760, Gene2Phenotype
KIF11 is in 8 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

I don't know

Li reported three cases with microphthalmia (and microcephaly) , a case with a de novo nonsense variant , a case with a frameshift inherited from the unaffected father, and a case with a missense inherited from the mildly affected father
Created: 2 Oct 2019, 3:48 p.m. | Last Modified: 2 Oct 2019, 3:48 p.m.
Panel Version: 0.91

Publications

Variants in this GENE are reported as part of current diagnostic practice

Mariya Moosajee (Moorfields Eye Hospital)

Green List (high evidence)

Phenotypes
Chorioretinopathy, Lymphedema or Mental Retardation, MCLMR

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Amber
  • London North GLH
Phenotypes
  • Chorioretinopathy, Lymphedema or Mental Retardation, MCLMR, 152950
OMIM
148760
Clinvar variants
Variants in KIF11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Oct 2019, Gel status: 2

Added New Source, Set publications

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to KIF11. Publications for gene KIF11 were changed from to 27212378

16 Sep 2019, Gel status: 2

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Amber was added to KIF11. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

23 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: KIF11 was added gene: KIF11 was added to Structural eye disease. Sources: London North GLH Mode of inheritance for gene: KIF11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KIF11 were set to Chorioretinopathy, Lymphedema or Mental Retardation, MCLMR, 152950