Clefting
Gene: MKS1

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

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Orofacial clefting is a feature of Meckel-Gruber Syndrome, with clefting reported in multiple cases, e.g. PMID 26037304, PMID 25182137, PMID 24643152.
Created: 31 May 2017, 11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Meckel syndrome 1, 249000; MKS1; Meckel-Gruber Syndrome (MGS)

Publications

Created: 31 May 2017, 11 a.m.

Panel version: 0.284

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Meckel syndrome 1, 249000
MKS1
Meckel-Gruber Syndrome (MGS)

OMIM

609883

Clinvar variants

Variants in MKS1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

31 May 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

31 May 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

MKS1 was added to Cleftingpanel. Sources: Expert Review Green

31 May 2017, Gel status: 0

Created