Skeletal dysplasia
Gene: MKS1EnsemblGeneIds (GRCh38): ENSG00000011143
EnsemblGeneIds (GRCh37): ENSG00000011143
OMIM: 609883, Gene2Phenotype
MKS1 is in 25 panels
4 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
polydactyly-syndactyly-triphalangism SD gp, several families, mostly Finnish with founder mutation (29bp del in intron 15); Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome 13 615990; Meckel syndrome 1 249000
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: MKS1; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Numerous variants reported in these phenotypesCreated: 12 Jul 2016, 10 a.m.
Ana Beleza (Bristol Regional Genetics Service)
Tier 2Created: 17 Jun 2016, 8:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome 13 615990; Meckel syndrome 1 249000
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- UKGTN
- Expert list
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Phenotypes
-
- Meckel syndrome 1 249000
- Bardet-Biedl syndrome 13 615990
- OMIM
- 609883
- Clinvar variants
- Variants in MKS1
- Penetrance
- Complete
- Panels with this gene
-
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
- VACTERL-like phenotypes
- Renal ciliopathies
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Limb disorders
- DDG2P
- Intellectual disability
- Clefting
- Severe early-onset obesity
- Retinal disorders
- Familial Neural Tube Defects
- Ductal plate malformation
- Skeletal ciliopathies
- Neurological ciliopathies
- Cystic kidney disease
- Bardet Biedl syndrome
- Structural eye disease
- Neonatal cholestasis
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Added phenotypes Meckel syndrome 1 249000; Bardet-Biedl syndrome 13 615990 for gene: MKS1
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to MKS1. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 9th August 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for MKS1 were set to Bardet-Biedl syndrome 13 615990; Meckel syndrome 1 249000
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for MKS1 was changed to BIALLELIC, autosomal or pseudoautosomal
Upload gene information
Sarah Leigh (Genomics England Curator)MKS1 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Added New Source
Sarah Leigh (Genomics England Curator)MKS1 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory
Added New Source
Sarah Leigh (Genomics England Curator)MKS1 was added to Unexplained skeletal dysplasiapanel. Sources:
Created
Sarah Leigh (Genomics England Curator)MKS1 was created by sleigh