Cerebellar hypoplasia
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
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM and as a probable G2P. At least 2 homozygous truncating deletion variants reported in two unrelated cases (7682bp and 7bp).Created: 4 Sep 2017, 3:13 p.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
- Literature
- Phenotypes
-
- Gaze palsy, familial horizontal, with progressive scoliosis 2, 617542
- Tags
- OMIM
- 120470
- Clinvar variants
- Variants in DCC
- Penetrance
- Complete
- 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
11 Apr 2018, Gel status: 2
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for DCC were set to Gaze palsy, familial horizontal, with progressive scoliosis 2, 617542
11 Apr 2018, Gel status: 2
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for DCC were set to Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542
4 Sep 2017, Gel status: 2
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
4 Sep 2017, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)DCC was created by sleigh
4 Sep 2017, Gel status: 0
Added New Source
Sarah Leigh (Genomics England Curator)DCC was added to Cerebellar hypoplasiapanel. Sources: Literature