This Panel is marked as Internal
Joubert syndrome
Gene: MKS1
MKS1 (Meckel syndrome, type 1)
EnsemblGeneIds (GRCh38): ENSG00000011143
EnsemblGeneIds (GRCh37): ENSG00000011143
OMIM: 609883, Gene2Phenotype
MKS1 is in 25 panels
EnsemblGeneIds (GRCh38): ENSG00000011143
EnsemblGeneIds (GRCh37): ENSG00000011143
OMIM: 609883, Gene2Phenotype
MKS1 is in 25 panels
1 review
Penny Clouston (Oxford)
On current diagnostic panel and positive families within patient cohort. Evidence from literature.Created: 15 Mar 2016, 3:37 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome; Meckel-Gruber syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Phenotypes
-
- Joubert syndrome
- Meckel-Gruber syndrome
- OMIM
- 609883
- Clinvar variants
- Variants in MKS1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Skeletal dysplasia
- Familial Neural Tube Defects
- Intellectual disability
- Unexplained kidney failure in young people
- Ductal plate malformation
- Renal ciliopathies
- DDG2P
- Severe early-onset obesity
- Rare multisystem ciliopathy disorders
- Cystic kidney disease
- Fetal anomalies
- Retinal disorders
- Neonatal cholestasis
- Glaucoma (developmental)
- Bardet Biedl syndrome
- Thoracic dystrophies
- Primary ciliary disorders
- Skeletal ciliopathies
- Clefting
- Structural eye disease
- VACTERL-like phenotypes
- Limb disorders
- Ophthalmological ciliopathies
- Neurological ciliopathies
History Filter Activity
17 Nov 2016, Gel status: 0
Approved Gene
Alice Gardham (Genomics England)This proposed gene was validated and added to this panel
15 Mar 2016, Gel status: 0
Created
Penny Clouston (Oxford)MKS1 was created by PennyC
15 Mar 2016, Gel status: 0
Added New Source
Penny Clouston (Oxford)MKS1 was added to Joubert syndromepanel. Sources: Expert Review