Regression
Gene: CC2D2AEnsemblGeneIds (GRCh38): ENSG00000048342
EnsemblGeneIds (GRCh37): ENSG00000048342
OMIM: 612013, Gene2Phenotype
CC2D2A is in 21 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Progressive neurodevelopmental regression is not a key feature of these disorders.Created: 24 Aug 2022, 9:38 p.m. | Last Modified: 24 Aug 2022, 9:38 p.m.
Panel Version: 0.492
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
COACH syndrome 2, MIM# 619111; Joubert syndrome 9, 612285; Meckel syndrome 6, 612284
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Phenotypes
-
- COACH syndrome 2, MIM# 619111
- Joubert syndrome 9, 612285
- Meckel syndrome 6, 612284
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cc2d2a has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CC2D2A were changed from to COACH syndrome 2, MIM# 619111; Joubert syndrome 9, 612285; Meckel syndrome 6, 612284
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: CC2D2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cc2d2a has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CC2D2A was added gene: CC2D2A was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CC2D2A was set to Unknown