Familial Neural Tube Defects
Gene: CC2D2AEnsemblGeneIds (GRCh38): ENSG00000048342
EnsemblGeneIds (GRCh37): ENSG00000048342
OMIM: 612013, Gene2Phenotype
CC2D2A is in 28 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Meckel Syndrome
- OMIM
- 612013
- Clinvar variants
- Variants in CC2D2A
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- VACTERL-like phenotypes
- Ophthalmological ciliopathies
- Cholestasis
- Retinal disorders
- Neurological ciliopathies
- Skeletal dysplasia
- Limb disorders
- COVID-19 research
- Dystonia, chorea or related movement disorder, childhood onset
- Clefting
- Ocular coloboma
- Polycystic liver disease
- Hydrocephalus
- Familial Neural Tube Defects
- Renal ciliopathies
- Unexplained kidney failure in young people
- Ductal plate malformation
- Fetal anomalies
- Structural eye disease
- Rare multisystem ciliopathy disorders
- Early onset or syndromic epilepsy
- DDG2P
- Neonatal cholestasis
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Cystic kidney disease
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)25th Oct 2016: This panel was discussed internally, and as Neural tube defects (NTDs) are common multifactorial disorders caused by multiple genes and environmental factors, all genes on this panel should be considered red at this stage. Ready to promote to Version 1.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Mode of Inheritance, Added New Source
Olivia Niblock (Genomics England Curator)CC2D2A was added to Familial Neural Tube Defectspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal
Created
Olivia Niblock (Genomics England Curator)CC2D2A was created by oniblock
Added New Source
Olivia Niblock (Genomics England Curator)CC2D2A was added to Familial Neural Tube Defectspanel. Sources: Radboud University Medical Center, Nijmegen