Ehlers Danlos syndromes

Gene: DCC

Amber List (moderate evidence)

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

2 reviews

Louise Daugherty (Genomics England Curator)

Reviewed by the Genomics England clinical team, the gene DCC was added to the Ehlers-Danlos Syndromes panel because of the prominent scoliosis.
Created: 3 Oct 2017, 3:09 p.m.

Sarah Leigh (Genomics England Curator)

I don't know

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, 3:11 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, OMIM:617542
Tags
watchlist structural-variant
OMIM
120470
Clinvar variants
Variants in DCC
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

18 Mar 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: DCC were changed from Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542 to Gaze palsy, familial horizontal, with progressive scoliosis, 2, OMIM: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

Added New Source

Sarah Leigh (Genomics England Curator)

DCC was added to Ehlers-Danlos syndromespanel. Sources: Literature

4 Sep 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

DCC was created by sleigh