Ataxia and cerebellar anomalies - narrow panel
Gene: DCC
DCC (DCC netrin 1 receptor)
EnsemblGeneIds (GRCh38): ENSG00000187323
EnsemblGeneIds (GRCh37): ENSG00000187323
OMIM: 120470, Gene2Phenotype
DCC is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000187323
EnsemblGeneIds (GRCh37): ENSG00000187323
OMIM: 120470, Gene2Phenotype
DCC is in 12 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Gaze palsy, familial horizontal, with progressive scoliosis 2, 617542
- OMIM
- 120470
- Clinvar variants
- Variants in DCC
- Penetrance
- None
- Publications
- Panels with this gene
-
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Cerebellar hypoplasia
- Fetal anomalies
- DDG2P
- Skeletal dysplasia
- Ataxia and cerebellar anomalies - narrow panel
- Ehlers Danlos syndrome with a likely monogenic cause
- Mitochondrial disorders
History Filter Activity
9 Jan 2019, Gel status: 2
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Rebecca Foulger: Comment on list classification
19 Dec 2018, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: DCC was added gene: DCC was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Amber Mode of inheritance for gene: DCC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DCC were set to 28250456 Phenotypes for gene: DCC were set to Gaze palsy, familial horizontal, with progressive scoliosis 2, 617542