RPGRIP1L Chromosome 16
RPGRIP1 like
Upload your DNA to see your personal genotypes for variants in RPGRIP1L.
What This Gene Does
The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5). [provided by RefSeq, Jun 2016]
Gene Info
Gene Group
"Protein phosphatase 1 regulatory subunits|C2 domain containing|MKS complex|NPHP complex"
Locus Type
gene with protein product
Location
16q12.2
Ensembl
ENSG00000103494
Associated Conditions (22)
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome
type 5
COACH syndrome 3
Joubert syndrome 7
COACH syndrome 1
Inborn genetic diseases
RPGRIP1L-related disorder
Nephronophthisis 8
Optic atrophy
Lung cancer
Familial cancer of breast
Retinal dystrophy
Kidney disorder
Bardet-Biedl syndrome
Leber congenital amaurosis
Joubert syndrome and related disorders
Ciliopathy
Uterine corpus endometrial carcinoma
+2 more conditions
Key Variants
RS111459222
Conflicting classifications of pathogenicity
Meckel-Gruber syndrome, Joubert syndrome, Meckel syndrome
Health Risk
RS1204073957
Conflicting classifications of pathogenicity
COACH syndrome 1, Meckel-Gruber syndrome, Joubert syndrome
Health Risk
RS1209593787
Conflicting classifications of pathogenicity
Meckel-Gruber syndrome, Joubert syndrome, Inborn genetic diseases
Health Risk
RS1250768770
Conflicting classifications of pathogenicity
Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome 7
Health Risk
RS1253988919
Conflicting classifications of pathogenicity
Meckel-Gruber syndrome, Joubert syndrome, RPGRIP1L-related disorder
Health Risk
RS1258182460
Conflicting classifications of pathogenicity
Joubert syndrome, Meckel-Gruber syndrome, Meckel syndrome
Health Risk
RS137982921
Conflicting classifications of pathogenicity
Nephronophthisis 8, Meckel syndrome, type 5
Health Risk
RS138155747
Conflicting classifications of pathogenicity
Joubert syndrome, Meckel-Gruber syndrome, Meckel syndrome
Health Risk
RS138383101
Conflicting classifications of pathogenicity
Meckel-Gruber syndrome, Joubert syndrome, COACH syndrome 3
Health Risk
RS138724933
Conflicting classifications of pathogenicity
Joubert syndrome 7, Meckel syndrome, type 5
Health Risk
RS139067427
Conflicting classifications of pathogenicity
Joubert syndrome, Meckel-Gruber syndrome, RPGRIP1L-related disorder
Health Risk
RS139503476
Conflicting classifications of pathogenicity
Joubert syndrome, Meckel-Gruber syndrome, Meckel syndrome
Health Risk
All Variants (335)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2544752143 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS2544754244 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS267607020 | Health Risk | Pathogenic | COACH syndrome 3, Joubert syndrome 7, COACH syndrome 3 |
| RS386833998 | Health Risk | Pathogenic | Meckel syndrome, type 5, Meckel-Gruber syndrome |
| RS387906243 | Health Risk | Pathogenic | Joubert syndrome 7, Joubert syndrome 7 |
| RS547189939 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS747612183 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS751020468 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS751477523 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome 7 |
| RS752266252 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS754766543 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS758547965 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS760952407 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Meckel syndrome |
| RS770414663 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS771058410 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS771264753 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS772900011 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS776922546 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS777459060 | Health Risk | Pathogenic | — |
| RS778149316 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Joubert syndrome 7 |
| RS778533826 | Health Risk | Pathogenic | Joubert syndrome 7, Joubert syndrome, Meckel-Gruber syndrome |
| RS779776673 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS863225215 | Health Risk | Pathogenic | Joubert syndrome 7, Joubert syndrome, Meckel-Gruber syndrome |
| RS863225216 | Health Risk | Pathogenic | Joubert syndrome 7, Joubert syndrome 7 |
| RS863225217 | Health Risk | Pathogenic | Joubert syndrome 7, Joubert syndrome, Meckel-Gruber syndrome |
| RS863225218 | Health Risk | Pathogenic | Joubert syndrome 7, Joubert syndrome, Meckel-Gruber syndrome |
| RS863225219 | Health Risk | Pathogenic | Joubert syndrome 7, Joubert syndrome 7 |
| RS866067386 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS878855006 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS886041824 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS886052096 | Health Risk | Pathogenic | Joubert syndrome 7, Meckel syndrome, type 5 |
| RS970695621 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS987737814 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS1037406858 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, COACH syndrome 3 |
| RS1050777749 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Meckel syndrome |
| RS1057520790 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS1214012000 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Meckel syndrome |
| RS121918200 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 7, Joubert syndrome, Joubert syndrome 7 |
| RS121918203 | Health Risk | Pathogenic/Likely pathogenic | Meckel syndrome, type 5, RPGRIP1L-related disorder |
| RS121918204 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 7, Meckel syndrome, type 5 |
| RS1259684278 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel syndrome |
| RS1277577195 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel syndrome |
| RS1341026212 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS1381634873 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome 7 |
| RS1456208953 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, COACH syndrome 3 |
| RS145807002 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel syndrome |
| RS1470967742 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel syndrome |
| RS1676833644 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Joubert syndrome 7 |
| RS1964000214 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel syndrome |
| RS1966218490 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 7, Meckel syndrome, type 5 |