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Intellectual disability

Gene: CCDC8

Red List (low evidence)

CCDC8 (coiled-coil domain containing 8)
EnsemblGeneIds (GRCh38): ENSG00000169515
EnsemblGeneIds (GRCh37): ENSG00000169515
OMIM: 614145, Gene2Phenotype
CCDC8 is in 6 panels

4 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: After internal and external review, it was agreed this gene should be demoted from Green to Red
Created: 12 Sep 2018, 3:54 p.m.
Due to a Red external review from external reviewer, and looking at the info again in the literature I am not sure why this gene was rated as Green based on the evidence, it is a probable G2P (Plausible disease-causing mutations within, affecting or encompassing an interpretable functional region of a single gene identified in more than one (2 or 3) unrelated cases/families or segregation within multiple individuals within a single large family with a developmental disorder) but is listed as a brain/cognition gene, this is not ID gene. Intelligence is unaffected and age-related developmental milestones are met (PMID:22624670 ). In contrast to many other primordial growth disorders, intelligence remains unaffected and developmental milestones are reached age appropriately (PMID:11665997, PMID:16531729). More recently, PMID: 28969986 (2017) reported some uncommon features in a small cohort of Chinese patients, which included delayed motor development at early ages and PMID: 28675896 noted 3-M syndrome should be considered in children with mild skeletal abnormalities, normal/high growth hormone-IGF axis parameters, and normal intelligence. Past onto internal clinical team for further review and consideration to downgrade rating.
Created: 15 Aug 2018, 11:28 a.m.

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Is intellectual disability a feature of 3M syndrome?
Created: 14 Jun 2018, 2:21 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Caroline Wright (Sanger)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
THREE M SYNDROME 3

Publications

Lu Raymond (university of cambridge )

I don't know

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • 3-M syndrome, 614205
  • 3M syndrome
  • Three M syndrome 3
OMIM
614145
Clinvar variants
Variants in CCDC8
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Sep 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: ccdc8 has been classified as Red List (Low Evidence).

15 Aug 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CCDC8 were set to 3-M syndrome, 614205; 3M syndrome; Three M syndrome 3

15 Aug 2018, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CCDC8 were set to 21737058; 11665997; 16531729; 22624670; 28969986; 28675896

15 Aug 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CCDC8 were set to 3-M syndrome, 614205; 3M syndrome

15 Aug 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CCDC8 were set to 3-M syndrome, 614205

12 Mar 2018, Gel status: 3

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.

5 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 Feb 2016, Gel status: 4

Set Phenotypes

Richard Scott (Genomics England Curator)

Phenotypes for CCDC8 were set to THREE M SYNDROME 3; 614205

5 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CCDC8 was added to Intellectual disabilitypanel. Sources: Expert Review Amber

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CCDC8 was created by ellenmcdonagh