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  2. Likely inborn error of metabolism
  3. DCC
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Likely inborn error of metabolism

Gene: DCC

Amber List (moderate evidence)
DCC (DCC netrin 1 receptor)
EnsemblGeneIds (GRCh38): ENSG00000187323
EnsemblGeneIds (GRCh37): ENSG00000187323
OMIM: 120470, Gene2Phenotype
DCC is in 12 panels

1 review

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

Created: 3 Oct 2017, 1:58 p.m.

Panel version: Imported from Mitochondrial disorders panel version 1.49

History Filter Activity

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: DCC was added gene: DCC was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: DCC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DCC were set to 28250456 Phenotypes for gene: DCC were set to Gaze palsy, familial horizontal, with progressive scoliosis, 2