CC2D2A Chromosome 4
Coiled-coil and C2 domain containing 2A
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What This Gene Does
This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
Gene Info
Gene Group
MKS complex
Locus Type
gene with protein product
Location
4p15.32
Ensembl
ENSG00000048342
Associated Conditions (35)
COACH syndrome 1
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome
type 6
Joubert syndrome 9
COACH syndrome 2
Retinitis pigmentosa 93
Inborn genetic diseases
CC2D2A-related disorder
Congenital heart disease
Hepatocellular carcinoma
Microcephaly
Intellectual disability
Ciliopathy
Joubert syndrome 1
Retinal dystrophy
Optic atrophy
Joubert syndrome 9/15
digenic
+15 more conditions
Key Variants
RS1010285962
Conflicting classifications of pathogenicity
COACH syndrome 1, Meckel-Gruber syndrome, Joubert syndrome
Health Risk
RS1016233369
Conflicting classifications of pathogenicity
Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome 9
Health Risk
RS1052251029
Conflicting classifications of pathogenicity
Meckel-Gruber syndrome, Joubert syndrome, Inborn genetic diseases
Health Risk
RS1064794798
Conflicting classifications of pathogenicity
Health Risk
RS113065116
Conflicting classifications of pathogenicity
Meckel-Gruber syndrome, Joubert syndrome, Inborn genetic diseases
Health Risk
RS113371687
Conflicting classifications of pathogenicity
Joubert syndrome 9, Meckel syndrome, type 6
Health Risk
RS114387988
Conflicting classifications of pathogenicity
Meckel-Gruber syndrome, Joubert syndrome, CC2D2A-related disorder
Health Risk
RS115924432
Conflicting classifications of pathogenicity
Meckel-Gruber syndrome, Joubert syndrome, CC2D2A-related disorder
Health Risk
RS116198081
Conflicting classifications of pathogenicity
Meckel syndrome, type 6, Joubert syndrome 9
Health Risk
RS1167453314
Conflicting classifications of pathogenicity
Joubert syndrome, Meckel-Gruber syndrome, Meckel syndrome
Health Risk
RS117667651
Conflicting classifications of pathogenicity
Joubert syndrome, Meckel-Gruber syndrome, Meckel syndrome
Health Risk
RS118204051
Conflicting classifications of pathogenicity
Joubert syndrome 9, COACH syndrome 1, Meckel-Gruber syndrome
Health Risk
All Variants (437)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS766042434 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, CC2D2A-related disorder |
| RS766203266 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 9, Meckel syndrome, type 6 |
| RS766282869 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, CC2D2A-related disorder |
| RS766400907 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS767260373 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome 9 |
| RS768337150 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, CC2D2A-related disorder |
| RS768382177 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 9, Meckel syndrome, type 6 |
| RS768439693 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS768733110 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, CC2D2A-related disorder |
| RS769454642 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, COACH syndrome 2 |
| RS769761582 | Health Risk | Conflicting classifications of pathogenicity | Meckel syndrome, type 6, Joubert syndrome 9 |
| RS771914973 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome 9 |
| RS772784324 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 9, CC2D2A-related disorder, Meckel syndrome |
| RS774919996 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, CC2D2A-related disorder |
| RS775304664 | Health Risk | Conflicting classifications of pathogenicity | COACH syndrome 1, Joubert syndrome, Meckel-Gruber syndrome |
| RS777158229 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS777351655 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS777510836 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Inborn genetic diseases |
| RS778205727 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome 9 |
| RS778858648 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 9, Meckel-Gruber syndrome, Joubert syndrome |
| RS779304750 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, CC2D2A-related disorder |
| RS780010340 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Joubert syndrome, Meckel-Gruber syndrome |
| RS780673487 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS780924556 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome 9 |
| RS794727713 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Inborn genetic diseases |
| RS794729225 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Joubert syndrome 1, Joubert syndrome |
| RS797045438 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS863225169 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 9, Joubert syndrome, Meckel-Gruber syndrome |
| RS863225170 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 9, Joubert syndrome, Meckel-Gruber syndrome |
| RS863225175 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 9, Joubert syndrome, Meckel-Gruber syndrome |
| RS863225177 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 9, Joubert syndrome, Meckel-Gruber syndrome |
| RS863225181 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 9, Meckel-Gruber syndrome, Joubert syndrome |
| RS886042463 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Inborn genetic diseases |
| RS886044284 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS886044669 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS886059136 | Health Risk | Conflicting classifications of pathogenicity | Meckel syndrome, type 6, Joubert syndrome 9 |
| RS886059158 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 9, Meckel syndrome, type 6 |
| RS886940102 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, CC2D2A-related disorder |
| RS896947430 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Retinitis pigmentosa 93 |
| RS918403472 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Inborn genetic diseases |
| RS926806639 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Meckel syndrome |
| RS970431525 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS1027674181 | Health Risk | Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Joubert syndrome |
| RS1165615401 | Health Risk | Likely pathogenic | — |
| RS1176927796 | Health Risk | Likely pathogenic | — |
| RS118204052 | Health Risk | Likely pathogenic | Joubert syndrome 9, COACH syndrome 2, Meckel syndrome |
| RS1213164662 | Health Risk | Likely pathogenic | COACH syndrome 2, Meckel syndrome, type 6 |
| RS1296652053 | Health Risk | Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS1323514351 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS1392635342 | Health Risk | Likely pathogenic | Joubert syndrome 9, Joubert syndrome 9 |