Familial Neural Tube Defects
Gene: MKS1EnsemblGeneIds (GRCh38): ENSG00000011143
EnsemblGeneIds (GRCh37): ENSG00000011143
OMIM: 609883, Gene2Phenotype
MKS1 is in 25 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Meckel Syndrome
- OMIM
- 609883
- Clinvar variants
- Variants in MKS1
- Penetrance
- Complete
- Panels with this gene
-
- Structural eye disease
- Familial Neural Tube Defects
- Unexplained kidney failure in young people
- Retinal disorders
- Ductal plate malformation
- Clefting
- Renal ciliopathies
- DDG2P
- Severe early-onset obesity
- Rare multisystem ciliopathy disorders
- Cystic kidney disease
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Neonatal cholestasis
- Glaucoma (developmental)
- Bardet Biedl syndrome
- Thoracic dystrophies
- Primary ciliary disorders
- Skeletal ciliopathies
- VACTERL-like phenotypes
- Limb disorders
- Ophthalmological ciliopathies
- Neurological ciliopathies
- Fetal anomalies
- Skeletal dysplasia
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)25th Oct 2016: This panel was discussed internally, and as Neural tube defects (NTDs) are common multifactorial disorders caused by multiple genes and environmental factors, all genes on this panel should be considered red at this stage. Ready to promote to Version 1.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Olivia Niblock (Genomics England Curator)MKS1 was added to Familial Neural Tube Defectspanel. Source: UKGTN
Set Mode of Inheritance, Added New Source
Olivia Niblock (Genomics England Curator)MKS1 was added to Familial Neural Tube Defectspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene MKS1 was set to BIALLELIC, autosomal or pseudoautosomal
Created
Olivia Niblock (Genomics England Curator)MKS1 was created by oniblock
Added New Source
Olivia Niblock (Genomics England Curator)MKS1 was added to Familial Neural Tube Defectspanel. Sources: Radboud University Medical Center, Nijmegen