Primary ciliary disorders
Gene: MKKS
MKKS (McKusick-Kaufman syndrome)
EnsemblGeneIds (GRCh38): ENSG00000125863
EnsemblGeneIds (GRCh37): ENSG00000125863
OMIM: 604896, Gene2Phenotype
MKKS is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000125863
EnsemblGeneIds (GRCh37): ENSG00000125863
OMIM: 604896, Gene2Phenotype
MKKS is in 19 panels
2 reviews
Ian Berry (Leeds Genetics Laboratory)
Gene should be deleted - causes a primary ciliopathy;PCD is a motile ciliopathy, likely unrelated at a functional level.Created: 8 Dec 2015, 5:33 p.m.
Phenotypes
ciliopathies
Hannah Mitchison (UCL and GOSH)
This is a ciliopathy but not a Primary Ciliary Disorder gene and should be removed from the panelCreated: 8 Dec 2015, 4:25 p.m.
Phenotypes
ciliopathies
Details
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- ciliopathies
- OMIM
- 604896
- Clinvar variants
- Variants in MKKS
- Penetrance
- Complete
- Panels with this gene
-
- Skeletal ciliopathies
- Intellectual disability
- Ophthalmological ciliopathies
- Fetal anomalies
- Structural eye disease
- Renal ciliopathies
- Monogenic hearing loss
- Severe early-onset obesity
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Bardet Biedl syndrome
- Ductal plate malformation
- Limb disorders
- DDG2P
- Retinal disorders
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
16 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)MKKS was added to Primary ciliary disorderspanel. Sources: Emory Genetics Laboratory