Limb disorders
Gene: MKS1Comment on list classification: The Bardet-Biedl syndrome genes are being added back to this panel to avoid missing a potential diagnosis in the Genomic Medicine Service.Created: 25 Nov 2019, 10 p.m. | Last Modified: 25 Nov 2019, 10 p.m.
Panel Version: 1.96
Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded.Created: 2 Dec 2018, 11:07 p.m.
Comment when marking as ready: Numerous variants reported in these phenotypesCreated: 12 Jul 2016, 10 a.m.
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
Gene: mks1 has been classified as Green List (High Evidence).
Phenotypes for gene: MKS1 were changed from Bardet-Biedl syndrome 13 615990; Meckel syndrome 1 249000; Polydactyly to Bardet-Biedl syndrome 13 615990; Meckel syndrome 1 249000; Joubert syndrome 28, 617121; Polydactyly
Ana Beleza: Tier 2
Gene: mks1 has been removed from the panel.
Gene: mks1 has been removed from the panel.
Source Expert Review Removed was added to MKS1. Rating Changed from Green List (high evidence) to No List (delete)
Victorian Clinical Genetics Services was added to MKS1. Panel: Limb disorders Phenotypes for gene MKS1 were set to Bardet-Biedl syndrome 13 615990, Meckel syndrome 1 249000, Polydactyly
UKGTN was added to MKS1. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to MKS1. Panel: Limb disorders Illumina TruGenome Clinical Sequencing Services was added to MKS1. Panel: Limb disorders Expert list was added to MKS1. Panel: Limb disorders Emory Genetics Laboratory was added to MKS1. Panel: Limb disorders Expert Review Green was added to MKS1. Panel: Limb disorders Model of inheritance for gene MKS1 was set to BIALLELIC, autosomal or pseudoautosomal
London South East RGC GSTT was added to MKS1. Panel: Limb disorders
MKS1 was added to Limb disorders panel. Sources: Viapath
MKS1 was created by Ellen McDonagh