This Panel is marked as Deleted
Cholestasis Victorian Clinical Genetics Services
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
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 609883
- Clinvar variants
- Variants in MKS1
- Penetrance
- None
- Panels with this gene
-
- VACTERL-like phenotypes
- Renal ciliopathies
- Ophthalmological ciliopathies
- Skeletal ciliopathies
- Bardet Biedl syndrome
- Clefting
- Limb disorders
- Structural eye disease
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Severe early-onset obesity
- Neurological ciliopathies
- Retinal disorders
- Familial Neural Tube Defects
- Unexplained kidney failure in young people
- Intellectual disability
- Ductal plate malformation
- Cystic kidney disease
- Fetal anomalies
- DDG2P
- Neonatal cholestasis
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)MKS1 was added to Cholestasis Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)MKS1 was created by Sarah Leigh