Vitreoretinopathy
Gene: KIF11EnsemblGeneIds (GRCh38): ENSG00000138160
EnsemblGeneIds (GRCh37): ENSG00000138160
OMIM: 148760, Gene2Phenotype
KIF11 is in 9 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association.Created: 16 Jan 2021, 9:24 a.m. | Last Modified: 16 Jan 2021, 9:24 a.m.
Panel Version: 0.35
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, MIM# 152950
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, MIM# 152950
- OMIM
- 148760
- Clinvar variants
- Variants in KIF11
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kif11 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: KIF11 were changed from to Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, MIM# 152950
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: KIF11 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: KIF11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Alison Yeung (Victorian Clinical Genetics Services)gene: KIF11 was added gene: KIF11 was added to Vitreoretinopathy. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KIF11 was set to Unknown