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Skeletal dysplasia

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

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

Clinical features include childhood-onset progressive scoliosis. Two families reported, both with intragenic deletions.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: DCC; Initial rating suggestion: Amber - ?SD, only 2 cases
Created: 6 Mar 2019, 11:36 a.m.

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Associated with phenotype in OMIM, not in G2P. At least two homozygous variants reported in two unrelated families, segregation demonstrated in one four generation family
Created: 15 Aug 2017, 1:50 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
  • NHS GMS
  • Expert Review Amber
  • Literature
Phenotypes
  • Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542
  • Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542
OMIM
120470
Clinvar variants
Variants in DCC
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 May 2019, Gel status: 2

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542 for gene: DCC

6 Mar 2019, Gel status: 2

Added New Source

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to DCC.

15 Aug 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).

15 Aug 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).

15 Aug 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

DCC was created by sleigh

15 Aug 2017, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

DCC was added to Unexplained skeletal dysplasiapanel. Sources: Literature