Ataxia - paediatric
Gene: CC2D2AEnsemblGeneIds (GRCh38): ENSG00000048342
EnsemblGeneIds (GRCh37): ENSG00000048342
OMIM: 612013, Gene2Phenotype
CC2D2A is in 21 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Multiple families reported with a range of neurological ciliopathies; zebrafish and mouse models.
Note single family reported with isolated RP.Created: 17 Mar 2021, 10:58 p.m. | Last Modified: 21 Apr 2022, 9:30 p.m.
Panel Version: 0.13153
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
COACH syndrome, MIM#216360; Joubert syndrome 9, MIM#612285; Meckel syndrome 6, MIM#612284; Retinitis pigmentosa 93, MIM# 619845
Publications
Kristin Rigbye (Victorian Clinical Genetics Services)
Well established gene-disease association.
Note: It has been reported that null mutations generally result in Meckel syndrome, whilst missense/hypomorphic variants result in Joubert syndrome (residual protein function present) (PMID: 22241855, PMID: 27081510). However exceptions are possible (e.g. cases with overlapping presentation, homozygote variants).Created: 13 Feb 2020, 12:54 a.m. | Last Modified: 13 Feb 2020, 12:54 a.m.
Panel Version: 0.65
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
COACH syndrome, 216360; Joubert syndrome 9, 612285; Meckel syndrome 6, 612284
Publications
Variants in this GENE are reported as part of current diagnostic practice
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 9
- OMIM
- 612013
- Clinvar variants
- Variants in CC2D2A
- Penetrance
- None
- Panels with this gene
-
- Joubert syndrome and other neurological ciliopathies
- Ciliopathies
- Mackenzie's Mission_Reproductive Carrier Screening
- Polydactyly
- Clefting disorders
- Prepair 1000+
- Cholestasis
- BabyScreen+ newborn screening
- Renal Ciliopathies and Nephronophthisis
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Hydrocephalus_Ventriculomegaly
- Regression
- Anophthalmia_Microphthalmia_Coloboma
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Syndromic Retinopathy
- Prepair 500+
- Ataxia - paediatric
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: CC2D2A was added gene: CC2D2A was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CC2D2A were set to Joubert syndrome 9