Bardet-Biedl Syndrome
Gene: MKS1EnsemblGeneIds (GRCh38): ENSG00000011143
EnsemblGeneIds (GRCh37): ENSG00000011143
OMIM: 609883, Gene2Phenotype
MKS1 is in 25 panels
2 reviews
Caroline Wright (Genomics England Curator)
Comment on list classification: Meckel syndromeCreated: 17 Dec 2015, 2:39 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Eligibility statement prior genetic testing
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Meckel syndrome
- Bardet‐Biedl syndrome 13
- 249000
- OMIM
- 609883
- Clinvar variants
- Variants in MKS1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- VACTERL-like phenotypes
- Ophthalmological ciliopathies
- Intellectual disability
- Retinal disorders
- Neurological ciliopathies
- Limb disorders
- Dystonia, chorea or related movement disorder, childhood onset
- Skeletal ciliopathies
- Familial Neural Tube Defects
- Renal ciliopathies
- Clefting
- Unexplained kidney failure in young people
- Ductal plate malformation
- Severe early-onset obesity
- Fetal anomalies
- Structural eye disease
- Rare multisystem ciliopathy disorders
- Skeletal dysplasia
- Bardet Biedl syndrome
- DDG2P
- Neonatal cholestasis
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Cystic kidney disease
History Filter Activity
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for MKS1 were set to Meckel syndrome; Bardet‐Biedl syndrome 13; 249000
Set publications
Ellen McDonagh (Genomics England Curator)Publications for MKS1 were set to PMID:18327255; 16415886
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Caroline Wright (Genomics England Curator)Phenotypes for MKS1 were set to Meckel syndrome; Bardet‐Biedl syndrome 13
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)MKS1 was added to Bardet-Biedl Syndrome panel. Sources: Eligibility statement prior genetic testing
Added New Source
GEL ()MKS1 was added to Bardet-Biedl Syndrome panel. Sources: Emory Genetics Laboratory
Added New Source
GEL ()MKS1 was added to Bardet-Biedl Syndrome panel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()MKS1 was added to Bardet-Biedl Syndrome panel. Sources: UKGTN
Added New Source
GEL ()MKS1 was added to Bardet-Biedl Syndrome panel. Sources: Illumina TruGenome Clinical Sequencing Services