Ataxia - paediatric
Gene: MKS1

MKS1 (Meckel syndrome, type 1)
EnsemblGeneIds (GRCh38): ENSG00000011143
EnsemblGeneIds (GRCh37): ENSG00000011143
OMIM: 609883, Gene2Phenotype
MKS1 is in 19 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bi-allelic variants in MKS1 are associated with a range of ciliopathy phenotypes, including JBTS, BBS and Meckel syndrome, multiple families with each.
Created: 20 Mar 2021, 6:42 a.m. | Last Modified: 20 Mar 2021, 6:42 a.m.

Panel Version: 0.6802

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 28, MIM# 617121; MONDO:0014928; Meckel syndrome 1, MIM# 249000; MONDO:0009571; Bardet-Biedl syndrome 13, MIM# 615990; MONDO:0014441

Publications

Created: 20 Mar 2021, 6:42 a.m.
Last Modified: 20 Mar 2021, 6:42 a.m.
Panel version: Imported from Mendeliome panel version 0.6802

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital
Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Joubert syndrome 28

OMIM

609883

Clinvar variants

Variants in MKS1

Penetrance

None

Panels with this gene

History Filter Activity

19 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: MKS1 was added gene: MKS1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MKS1 were set to Joubert syndrome 28

Ataxia - paediatric Gene: MKS1