Meiges disease
Gene: KIF11EnsemblGeneIds (GRCh38): ENSG00000138160
EnsemblGeneIds (GRCh37): ENSG00000138160
OMIM: 148760, Gene2Phenotype
KIF11 is in 7 panels
1 review
Pia Ostergaard (St George's)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Microcephaly-Chorioretinopathy-Lymphoedema-Mental retardation
Publications
- [PMID: 22284827]
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, 152950
- OMIM
- 148760
- Clinvar variants
- Variants in KIF11
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set publications
Sarah Leigh (Genomics England Curator)Publications for KIF11 were set to 22284827
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for KIF11 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
panel promoted to version 1
Richard Scott (Genomics England Curator)Ready for version 1
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)KIF11 was added to Meiges diseasepanel. Sources: Radboud University Medical Center, Nijmegen