MKS1 Chromosome 17
MKS transition zone complex subunit 1
Upload your DNA to see your personal genotypes for variants in MKS1.
What This Gene Does
The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
Gene Info
Gene Group
"B9 domain containing|MKS complex"
Locus Type
gene with protein product
Location
17q22
Ensembl
ENSG00000011143
Associated Conditions (35)
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome
type 1
Bardet-Biedl syndrome 13
Joubert syndrome 28
MKS1-related disorder
Polydactyly
Nystagmus
Hypotonia
Bardet-Biedl syndrome
Inborn genetic diseases
Ovarian serous cystadenocarcinoma
Cervical cancer
Microcephaly
Optic atrophy
Retinal dystrophy
Spastic ataxia
Uterine corpus endometrial carcinoma
Sarcoma
+15 more conditions
Key Variants
RS111315726
Conflicting classifications of pathogenicity
Joubert syndrome, Meckel-Gruber syndrome, Meckel syndrome
Health Risk
RS11548967
Conflicting classifications of pathogenicity
Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome
Health Risk
RS1156392394
Conflicting classifications of pathogenicity
Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome
Health Risk
RS1244307754
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 13, Meckel syndrome, type 1
Health Risk
RS1291753612
Conflicting classifications of pathogenicity
Meckel-Gruber syndrome, Joubert syndrome, Bardet-Biedl syndrome 13
Health Risk
RS137853105
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 13, Meckel syndrome, type 1
Health Risk
RS142805406
Conflicting classifications of pathogenicity
Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome
Health Risk
RS142813109
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 13, Meckel syndrome, type 1
Health Risk
RS1433060710
Conflicting classifications of pathogenicity
Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome
Health Risk
RS144635826
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 13, Meckel syndrome, type 1
Health Risk
RS1555596758
Conflicting classifications of pathogenicity
Meckel syndrome, type 1, Meckel-Gruber syndrome
Health Risk
RS185405908
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 13, Meckel syndrome, type 1
Health Risk
All Variants (219)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2143744476 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS2143744820 | Health Risk | Pathogenic | — |
| RS2143751393 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS2143777988 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS2143778074 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS2143838681 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS2509402628 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS2509413100 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS2509416195 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS2509416584 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS2509447942 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Meckel syndrome |
| RS2509455112 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS2509455117 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS2509457683 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS2509457712 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS2509466085 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS2509469673 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS386834043 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel syndrome |
| RS386834050 | Health Risk | Pathogenic | Meckel syndrome, type 1, Meckel-Gruber syndrome |
| RS386834051 | Health Risk | Pathogenic | Meckel syndrome, type 1, Joubert syndrome 28 |
| RS567026924 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS587777804 | Health Risk | Pathogenic | Bardet-Biedl syndrome 13, Bardet-Biedl syndrome 13 |
| RS730880323 | Health Risk | Pathogenic | Meckel syndrome, type 1, Meckel syndrome |
| RS746647549 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS756368560 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Meckel syndrome |
| RS766392300 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS773036963 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS786204222 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Bardet-Biedl syndrome 13 |
| RS786205508 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Meckel-Gruber syndrome |
| RS863225204 | Health Risk | Pathogenic | Joubert syndrome, Joubert syndrome |
| RS863225205 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS863225206 | Health Risk | Pathogenic | Joubert syndrome, Joubert syndrome |
| RS863225208 | Health Risk | Pathogenic | Joubert syndrome, Joubert syndrome |
| RS863225209 | Health Risk | Pathogenic | Joubert syndrome, Joubert syndrome |
| RS863225210 | Health Risk | Pathogenic | Joubert syndrome, Joubert syndrome |
| RS886038204 | Health Risk | Pathogenic | Joubert syndrome 28, Joubert syndrome 28 |
| RS886039803 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Meckel syndrome, type 1 |
| RS1194131222 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Bardet-Biedl syndrome 13 |
| RS1215189491 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 13, Meckel syndrome, type 1 |
| RS1320893771 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Bardet-Biedl syndrome 13 |
| RS1411471923 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Bardet-Biedl syndrome 13 |
| RS1555599412 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 13, Meckel syndrome, type 1 |
| RS1567803107 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 13, Meckel syndrome, type 1 |
| RS1968640181 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Bardet-Biedl syndrome 13 |
| RS1968675432 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Bardet-Biedl syndrome 13 |
| RS201362733 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Bardet-Biedl syndrome 13 |
| RS201933838 | Health Risk | Pathogenic/Likely pathogenic | Meckel syndrome, type 1, Bardet-Biedl syndrome 13 |
| RS2143737457 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 28, Joubert syndrome, Meckel-Gruber syndrome |
| RS2143753386 | Health Risk | Pathogenic/Likely pathogenic | Meckel syndrome, type 1, Meckel-Gruber syndrome |
| RS2143800757 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Meckel syndrome |