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Intellectual disability

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

8 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

PMID:28250456 - Four patients from three different families reported with gaze palsy, familial horizontal, with progressive scoliosis (HGPPS2, MIM #617542), of which family 1 was identified with 7.7kb homozygous deletion (p.Pro11Thrfs*15), family 2 with 7bp homozygous deletion (p.Val263Alafs*36) and family 3 with homozygous missense variant (p.Gln691Lys). Families 1 and 3 had global developmental delay, while families 1 and 2 had intellectual disability.

PMID:33141514 - A novel homozygous frameshift variant (p.Asn800Lysfs*11) was identified in three members of a Pakistani family with HGPPS2, where one of them had mild ID.
Created: 18 Jul 2024, 10:06 a.m. | Last Modified: 18 Jul 2024, 10:06 a.m.
Panel Version: 6.54

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 18 Jul 2024, 10:06 a.m.
Last Modified: 18 Jul 2024, 10:06 a.m.
Panel version: 6.54

Arina Puzriakova (Genomics England Curator)

Following discussion with the clinical team, this gene has been demoted from Amber to Red, in accordance with the external review by Zornitza Stark
Created: 17 Aug 2020, 9:32 a.m. | Last Modified: 17 Aug 2020, 9:32 a.m.
Panel Version: 3.251
Created: 17 Aug 2020, 9:32 a.m.
Last Modified: 17 Aug 2020, 9:32 a.m.
Panel version: 3.251

Zornitza Stark (Australian Genomics)

Red List (low evidence)

This recent publication seems to suggest DCC LoF variants are associated with a favourable neurodevelopmental prognosis.
Created: 1 Feb 2020, 7:58 a.m. | Last Modified: 1 Feb 2020, 7:58 a.m.
Panel Version: 3.0

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Agenesis of the corpus callosum

Publications

Created: 1 Feb 2020, 7:58 a.m.
Last Modified: 1 Feb 2020, 7:58 a.m.
Panel version: 3.0

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: Marked as amber as out of the three reported families, only two have loss of function mutations and ID. The other proband carries a missense mutation and does not have ID (28250456)
Created: 20 Nov 2017, 3:09 p.m.
Created: 20 Nov 2017, 3:09 p.m.

Panel version: Imported from Intellectual disability update Oct 2017 panel version 0.90

Ellen McDonagh (Genomics England Curator)

I don't know

Currently amber perhaps should be green, as 3 families are reported in PMID: 28250456.
Created: 27 Oct 2017, 2:46 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Midline-bridging neuronal commissure disruption, horizontal gaze palsy, scoliosis, and intellectual disability

Publications

Created: 27 Oct 2017, 2:46 p.m.

Panel version: Imported from Intellectual disability update Oct 2017 panel version 0.2

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, 3:04 p.m.

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

Publications

Created: 4 Sep 2017, 3:04 p.m.

Panel version: 1.390

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_manual . Main mutation mechanism : Missense and Loss of function
Created: 27 Jul 2017, 5:30 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Publications

  • Manual assessment of Genes of interest from literature searches and personal communication

Created: 2 Aug 2017, 4:39 p.m.

Panel version: 1.354

Louise Daugherty (Genomics England Curator)

Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to access inclusion and pertinence to this panel.
Created: 28 Jul 2017, 11:24 a.m.
Created: 28 Jul 2017, 11:24 a.m.

Panel version: 1.269

History Filter Activity

18 Jul 2024, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

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

18 Jul 2024, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: DCC were changed from Midline-bridging neuronal commissure disruption, horizontal gaze palsy, scoliosis, and intellectual disability to Gaze palsy, familial horizontal, with progressive scoliosis, 2, OMIM:617542

18 Jul 2024, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: dcc has been classified as Amber List (Moderate Evidence).

18 Jul 2024, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: dcc has been classified as Amber List (Moderate Evidence).

12 Oct 2020, Gel status: 1

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Red was added to DCC. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

12 Mar 2018, Gel status: 2

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

29 Nov 2017, Gel status: 2

Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene DCC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene DCC was set to ['28250456']

28 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

27 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

DCC was created by BRIDGE

27 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

DCC was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene