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  3. KIF11
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Structural eye disease

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

5 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.
Created: 2 May 2024, 1:56 p.m. | Last Modified: 2 May 2024, 1:56 p.m.
Panel Version: 3.79

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 2 May 2024, 1:56 p.m.
Last Modified: 2 May 2024, 1:56 p.m.
Panel version: 3.79

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: As reviewed by Hannah Knight, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.
Created: 20 Dec 2023, 10:43 a.m. | Last Modified: 20 Dec 2023, 10:43 a.m.
Panel Version: 3.69

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development, OMIM:152950

Created: 20 Dec 2023, 10:41 a.m.
Last Modified: 20 Dec 2023, 10:41 a.m.
Panel version: 3.65

Hannah Knight (NIHR BioResource - University of Cambridge)

Green List (high evidence)

PMID: 24281367 (2014) report nine previously unreported families with KIF11 disease and additional information for some of those reported previously. This includes three cases with microphthalmia - appears to be different patients to those reported by Li et al. (2016) - different variants in the patients with microphthalmia
Created: 24 Nov 2023, 11:24 a.m. | Last Modified: 24 Nov 2023, 11:24 a.m.
Panel Version: 3.58

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development

Publications

Created: 24 Nov 2023, 11:24 a.m.
Last Modified: 24 Nov 2023, 11:24 a.m.
Panel version: 3.58

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

Created: 2 Oct 2019, 3:48 p.m.
Last Modified: 2 Oct 2019, 3:48 p.m.
Panel version: 0.91

Mariya Moosajee (Moorfields Eye Hospital)

Green List (high evidence)

Phenotypes
Chorioretinopathy, Lymphedema or Mental Retardation, MCLMR

Created: 23 Apr 2019, 2:12 p.m.

Panel version: 0.60

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • London North GLH
Phenotypes
  • Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development, OMIM:152950
OMIM
148760
Clinvar variants
Variants in KIF11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 May 2024, Gel status: 3

Removed Tag, Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q4_23_promote_green was removed from gene: KIF11. Tag Q4_23_NHS_review was removed from gene: KIF11.

2 May 2024, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

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

20 Dec 2023, Gel status: 2

Added Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_23_promote_green tag was added to gene: KIF11. Tag Q4_23_NHS_review tag was added to gene: KIF11.

20 Dec 2023, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: kif11 has been classified as Amber List (Moderate Evidence).

20 Dec 2023, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: KIF11 were changed from Chorioretinopathy, Lymphedema or Mental Retardation, MCLMR, 152950 to Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development, OMIM:152950

20 Dec 2023, Gel status: 2

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: KIF11 were set to 27212378

20 Dec 2023, Gel status: 2

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene: KIF11 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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