Structural eye disease
Gene: KIF11
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
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 microphthalmiaCreated: 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
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 fatherCreated: 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
Phenotypes
Chorioretinopathy, Lymphedema or Mental Retardation, MCLMR
Tag Q4_23_promote_green tag was added to gene: KIF11. Tag Q4_23_NHS_review tag was added to gene: KIF11.
Gene: kif11 has been classified as Amber List (Moderate Evidence).
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
Publications for gene: KIF11 were set to 27212378
Mode of inheritance for gene: KIF11 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Source NHS GMS was added to KIF11. Publications for gene KIF11 were changed from to 27212378
Source Expert Review Amber was added to KIF11. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
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