Joubert syndrome

Gene: MKS1

Red List (low evidence)

MKS1 (Meckel syndrome, type 1)
EnsemblGeneIds (GRCh38): ENSG00000011143
EnsemblGeneIds (GRCh37): ENSG00000011143
OMIM: 609883, Gene2Phenotype
MKS1 is in 27 panels

1 review

Penny Clouston (Oxford)

Green List (high evidence)

On current diagnostic panel and positive families within patient cohort. Evidence from literature.
Created: 15 Mar 2016, 3:37 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Joubert syndrome; Meckel-Gruber syndrome


Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

17 Nov 2016, Gel status: 0

Approved Gene

Alice Gardham (Genomics England)

This proposed gene was validated and added to this panel

15 Mar 2016, Gel status: 0


Penny Clouston (Oxford)

MKS1 was created by PennyC

15 Mar 2016, Gel status: 0

Added New Source

Penny Clouston (Oxford)

MKS1 was added to Joubert syndromepanel. Sources: Expert Review