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  2. Renal and urinary tract disorders
  3. MKS1
STRs in panel
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Renal and urinary tract disorders

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: Imported from Cystic kidney disease 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: Imported from Cystic kidney disease panel version 0

History Filter Activity

30 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Miranda Durkie: No current test experience but

20 Dec 2018, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Ciliopathy genes associated with cystic kidney disease for gene: MKS1

20 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: MKS1 was added gene: MKS1 was added to Renal and urinary tract disorders. Sources: Expert Review Red Mode of inheritance for gene: MKS1 was set to Unknown Phenotypes for gene: MKS1 were set to Ciliopathy genes associated with cystic kidney disease