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  2. Cystic kidney disease
  3. MKS1
STRs in panel
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Cystic kidney disease

Gene: MKS1

Red List (low evidence)
MKS1 (Meckel syndrome, type 1)
EnsemblGeneIds (GRCh38): ENSG00000011143
EnsemblGeneIds (GRCh37): ENSG00000011143
OMIM: 609883, Gene2Phenotype
MKS1 is in 25 panels

2 reviews

Ellen Thomas (Genomics England Curator)

Comment on list classification: Meckel syndrome: not including syndromic forms in this panel.
Created: 10 May 2016, 10:37 a.m.
Created: 10 May 2016, 10:37 a.m.

Panel version: 0.31

Miranda Durkie (Genetics)

Green List (high evidence)

No current test experience but this gene is on the list for an extended panel.
Created: 22 Oct 2015, noon

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Meckel-Gruber type 1; Bardet-Biedl syndrome type 13

Publications

Created: 22 Oct 2015, noon

Panel version: 0

History Filter Activity

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

15 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

MKS1 was added to Cystic kidney diseasepanel. Sources: Expert