Retinal disorders
Gene: KIF11EnsemblGeneIds (GRCh38): ENSG00000138160
EnsemblGeneIds (GRCh37): ENSG00000138160
OMIM: 148760, Gene2Phenotype
KIF11 is in 7 panels
2 reviews
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
Ellen McDonagh (Genomics England Curator)
This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.Created: 2 Jun 2016, 8:04 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Genetic Retinal Degeneration Conditions
- OMIM
- 148760
- Clinvar variants
- Variants in KIF11
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to KIF11. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for KIF11 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created
Ellen McDonagh (Genomics England Curator)KIF11 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)KIF11 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green