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Fetal anomalies

Gene: DCC

Green List (high evidence)
DCC (DCC netrin 1 receptor)
EnsemblGeneIds (GRCh38): ENSG00000187323
EnsemblGeneIds (GRCh37): ENSG00000187323
OMIM: 120470, Gene2Phenotype
DCC is in 6 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Monoallelic variants reported in multiple families reported with congenital mirror movements. Some patients with DCC mutations have agenesis of the corpus callosum. Biallelic variants reported in 3 patients from 2 unrelated families with familial horizontal gaze palsy with progressive scoliosis-2 with impaired intellectual development. Brain imaging showed agenesis of the corpus callosum (ACC), absence of the anterior and hippocampal commissures, hypoplasia of the pons and midbrain, and midline cleft throughout the brainstem. Suitable for fetal anomalies panel.
Created: 14 Jan 2022, 5:24 a.m. | Last Modified: 14 Jan 2022, 5:24 a.m.
Panel Version: 0.2200

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

Publications

Created: 14 Jan 2022, 5:24 a.m.
Last Modified: 14 Jan 2022, 5:24 a.m.
Panel version: 0.2200

Details

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

History Filter Activity

20 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dcc has been classified as Green List (High Evidence).

20 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DCC were changed from Midline-bridging neuronal commissure disruption, horizontal gaze palsy, scoliosis, and intellectual disability to Mirror movements 1 and/or agenesis of the corpus callosum, OMIM #157600; Gaze palsy, familial horizontal, with progressive scoliosis, 2,OMIM # 617542

20 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DCC were set to

20 Jan 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DCC was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

14 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: dcc has been classified as Green List (High Evidence).

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DCC was added gene: DCC was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: DCC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DCC were set to Midline-bridging neuronal commissure disruption, horizontal gaze palsy, scoliosis, and intellectual disability