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Possible mitochondrial disorder - nuclear genes

Gene: DCC

Red List (low evidence)

DCC (DCC netrin 1 receptor)
EnsemblGeneIds (GRCh38): ENSG00000187323
EnsemblGeneIds (GRCh37): ENSG00000187323
OMIM: 120470, Gene2Phenotype
DCC is in 13 panels

2 reviews

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542; Mirror movements 1 and/or agenesis of the corpus callosum, 157600

Louise Daugherty (Genomics England Curator)

I don't know

The gene DCC was added to the Ehlers-Danlos Syndromes panel due to scoliosis differentials, the Genomics England clinical team reviewed further for possible inclusion in other panels, and it was decided that even though the phenotype is atypical it could resemble partially a mitochondria disorder. So it was recommended that in addition DCC was added to the Mitochondrial disorders panel.
Created: 3 Oct 2017, 2:04 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Mirror movements 1 and/or agenesis of the corpus callosum, 157600
  • Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542
OMIM
120470
Clinvar variants
Variants in DCC
Penetrance
None
Panels with this gene

History Filter Activity

4 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: DCC was added gene: DCC was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: DCC was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: DCC were set to Mirror movements 1 and/or agenesis of the corpus callosum, 157600; Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542