Intellectual disability
Gene: CCDC8

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.

Created: 15 Aug 2018, 11:28 a.m.

Panel version: 2.386

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

Created: 14 Jun 2018, 2:21 p.m.

Panel version: 2.104

Caroline Wright (Sanger)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
THREE M SYNDROME 3

Publications

21737058

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

Lu Raymond (university of cambridge )

I don't know

Created: 23 Feb 2016, 10:02 a.m.

Panel version: 0.306

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