This Panel is marked as Deleted
GMS Musculoskeletal specialist test group Skeletal dysplasia
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
1 review
Tracy Lester (Genetics laboratory, Oxford UK)
Clinical features include childhood-onset progressive scoliosis. Two families reported, both with intragenic deletions.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- NHS GMS
- Phenotypes
-
- Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542
- OMIM
- 120470
- Clinvar variants
- Variants in DCC
- Penetrance
- None
- Panels with this gene
-
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- 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
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
History Filter Activity
6 Mar 2019, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: DCC was added gene: DCC was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: DCC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DCC were set to Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542