Joubert syndrome and other neurological ciliopathies
Gene: C2CD3EnsemblGeneIds (GRCh38): ENSG00000168014
EnsemblGeneIds (GRCh37): ENSG00000168014
OMIM: 615944, Gene2Phenotype
C2CD3 is in 14 panels
1 review
Elena Savva (Victorian Clinical Genetics Services)
Molar tooth sign (MTS) a listed phenotype in OMIM
PMID: 24997988 - 1 patient with a homozygous PTC. MRI showed MTS
PMID: 30097616 -
1 chet (two splice) patient with MTS, polydactyly. Sibling also had polydactyly, mild cerebellar hypoplasia and grey matter heterotopia.
1 chet (two missense) patient with MTS, was noted to have a diagnosis of Joubert syndrome
Summary Table 3 reviews previous reports, and notes 6/12 cases also had MTS.
Sources: Expert listCreated: 13 May 2020, 12:46 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Orofaciodigital syndrome XIV 615948
Publications
- PMID: 24997988
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Orofaciodigital syndrome XIV 615948
- OMIM
- 615944
- Clinvar variants
- Variants in C2CD3
- Penetrance
- None
- Publications
-
- PMID: 24997988
- Panels with this gene
-
- Renal Ciliopathies and Nephronophthisis
- Intellectual disability syndromic and non-syndromic
- Callosome
- Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy
- Skeletal Dysplasia_Fetal
- Joubert syndrome and other neurological ciliopathies
- Ciliopathies
- Mackenzie's Mission_Reproductive Carrier Screening
- Polydactyly
- Skeletal dysplasia
- Fetal anomalies
- Clefting disorders
- Prepair 1000+
- Mendeliome
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: c2cd3 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: c2cd3 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Elena Savva (Victorian Clinical Genetics Services)gene: C2CD3 was added gene: C2CD3 was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert list Mode of inheritance for gene: C2CD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C2CD3 were set to PMID: 24997988 Phenotypes for gene: C2CD3 were set to Orofaciodigital syndrome XIV 615948 Review for gene: C2CD3 was set to GREEN