Cerebral Palsy
Gene: DCCEnsemblGeneIds (GRCh38): ENSG00000187323
EnsemblGeneIds (GRCh37): ENSG00000187323
OMIM: 120470, Gene2Phenotype
DCC is in 6 panels
1 review
Clare van Eyk (University of Adelaide)
1 individual reported with mono-allelic stopgain in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Sources: LiteratureCreated: 27 May 2024, 5:12 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mirror movements 1 and/or agenesis of the corpus callosum, MIM#157600
Publications
- PMID: 38693247
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Mirror movements 1 and/or agenesis of the corpus callosum, MIM#157600
- OMIM
- 120470
- Clinvar variants
- Variants in DCC
- Penetrance
- None
- Publications
-
- PMID: 38693247
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dcc has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dcc has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: DCC was added gene: DCC was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: DCC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DCC were set to PMID: 38693247 Phenotypes for gene: DCC were set to Mirror movements 1 and/or agenesis of the corpus callosum, MIM#157600 Review for gene: DCC was set to RED