Cerebellar hypoplasia

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

1 review

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, 3:13 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

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