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Limb disorders

Gene: MKS1

Green List (high evidence)

MKS1 (Meckel syndrome, type 1)
EnsemblGeneIds (GRCh38): ENSG00000011143
EnsemblGeneIds (GRCh37): ENSG00000011143
OMIM: 609883, Gene2Phenotype
MKS1 is in 28 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Comment 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.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Numerous variants reported in these phenotypes
Created: 12 Jul 2016, 10 a.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 2
Created: 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

History Filter Activity

25 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: mks1 has been classified as Green List (High Evidence).

25 Nov 2019, Gel status: 0

Set Phenotypes

Eleanor Williams (Genomics England Curator)

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

11 Dec 2018, Gel status: 0

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ana Beleza: Tier 2

2 Dec 2018, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: mks1 has been removed from the panel.

2 Dec 2018, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: mks1 has been removed from the panel.

2 Dec 2018, Gel status: 0

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Removed was added to MKS1. Rating Changed from Green List (high evidence) to No List (delete)

13 Aug 2018, Gel status: 4

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

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

5 Apr 2018, Gel status: 4

Added New Source, Added New Source, Added New Source, Added New Source, Added New Source, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

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

27 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

London South East RGC GSTT was added to MKS1. Panel: Limb disorders

17 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MKS1 was added to Limb disorders panel. Sources: Viapath

17 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

MKS1 was created by Ellen McDonagh